At Risk for Huntington's Disease

Advocacy pays off: Huntington’s disease stem-cell research advances in California

2012-01-23T09:51:00.000-08:00

Grass-roots advocacy for Huntington’s disease stem-cell research is paying off.

Using funds from the state of California secured with the help of advocates, leading HD stem-cell scientists are taking important steps towards developing potential ways to treat, reverse, and perhaps even cure HD.

These funds come from the California Institute for Regenerative Medicine (CIRM), the $3 billion initiative approved by the state’s voters in November 2004 to establish grants and loans for stem-cell research aimed at rapidly developing treatments for a host of diseases.

Leading stem-cell advocates had successfully worked to get the measure on the ballot as a state initiative after President George W. Bush had signed an order blocking the establishment of new human embryonic stem-cell lines, which scientists needed to expand research in the field. President Barack Obama later rescinded that order.

CIRM projects have spurred the creation of new embryonic stem-cell research, as well as other kinds of stem cells.

Millions in funding

While the CIRM oversight board has representatives concerned with Alzheimer’s disease and diabetes, among other conditions, it has no representative from the Huntington’s disease community.

Nevertheless, in 2007, as CIRM prepared to award its first research grants, California’s grass-roots HD activists began campaigning for the board to address Huntington’s stem-cell projects.

In October of that year, I arranged for Bill Johnston, the public relations director of the San Diego Chargers and the president of the San Diego Chapter of the Huntington’s Disease Society of America, to appeal to the oversight board during a public meeting in San Diego. As he spoke, Johnston held his wife Ramona, who has HD. This was the very first time that a member of the HD community had appeared before the board.

I also spearheaded the organization of the December 2007 CIRM “Spotlight on Huntington’s Disease,” held at the University of California, Los Angeles. The presentation included talks by two leading scientists, as well as a plea for HD research from activist Frances Saldaña and her daughter Margie Hayes, one of three siblings who developed juvenile HD and the mother of two at-risk children. (For more on these first meetings, click here.)

As mother Frances Saldaña (left) looks on, Margie Hayes tells about her struggle against HD at the CIRM Spotlight on Huntington's Disease, Los Angeles, December 12, 2007 (photo by Gene Veritas).

CIRM President Dr. Alan Trounson (left) with Alexa Shaffer and mother Sharon. Sharon has HD, and Alexa is at risk. They told their stories at a CIRM board meeting in San Diego on September 25, 2008 (photo by Gene Veritas).

Advocates throughout California joined hands in this cause, with other HD family members speaking before the oversight board at its regular public meetings in different parts of the state. (For the sake of brevity, I won’t list the names of the numerous dedicated individuals involved in these efforts.)

Together with the researchers’ meticulously prepared grant applications, this advocacy has generated solid results: to date, HD stem-cell research projects, based mainly at the University of California, Davis (UC Davis), and the University of California, Irvine (UCI), have received $7.9 million in CIRM funding.

Striving for an HD ‘Disease Team’

Tomorrow, January 24, Jan Nolta, Ph.D., the director of the UC Davis Institute for Regenerative Cures, will submit an application to CIRM for a $20 million project to fund an HD “Disease Team.” The team will aim to develop the very first human clinical trial for an HD stem-cell treatment, which would involve attacking the disease at its genetic roots and infusing the brain with an important growth factor known as BDNF.

Just last month, Dr. Nolta published a scientific article demonstrating promising results in pre-clinical experiments, which must precede human trials (click here to read more).

Dr. Nolta uses a well-known type of stem cells, called “mesenchymal stem cells.” A long-time expert on these cells, Dr. Nolta refers to them as “paramedics” because of the way they congregate around and repair damaged cells.

Dr. Nolta at the HD bench at the Institute for Regenerative Cures (photo by Gene Veritas)

Last May I spent a day interviewing Dr. Nolta and observing the work of the UC Davis institute, co-founded by the university and CIRM (click here to read more about my visit and Dr. Nolta’s work).

Once again, we will mobilize our California network of advocates, this time in support of the HD Disease Team application. We want to stress the urgency of finding treatments for this killer disease and the importance of HD research in advancing the stem-cell field.

New stem-cell lines

At UCI, HD stem-cell research has progressed rapidly under the leadership of Dr. Leslie Thompson, a professor in the UCI School of Medicine’s Departments of Psychiatry and Human Behavior, the interim director of the Center for Mitochondrial and Molecular Medicine and Genetics, and a holder of various other positions within the university.

With one CIRM grant of $900,000, awarded in 2008, Dr. Thompson and her researchers are creating new neuronal (brain) stem cells. They produce these cells by taking skin-cell samples from both HD-affected and non-HD people, “reprogramming” them to become stem cells, and then “differentiating” them into the neuronal stem cells.

From these new cells, they eventually hope to obtain medium spiny neurons, the kind of brain cell most affected by HD. The disease occurs because these cells malfunction, become damaged, and die. Using the neuronal stem cells, the research team can study HD at work in a live, real-time human setting.

This grant also funds research on human stem cells taken from embryos discarded by couples who underwent PGD (preimplantation genetic diagnosis) in order to have HD-free children. In this project, Dr. Thompson and her researchers have succeeded in establishing one new line of human embryonic stem cells, which will be used to study HD.

Announced in late 2010, a second CIRM grant of $3.8 million funds a UCI project that seeks to develop a stem-cell treatment for study in HD mice. The initial experiments in this project demonstrate that the mice’s symptoms improve after the introduction of mouse stem cells into their brains. The second stage is examining the effect of human stem cells on the mouse brains.

Later, Dr. Thompson hopes to apply for another HD Disease Team grant to develop ways to apply her research for potential stem-cell treatments in humans.

In future articles, I will explore in greater depth how Dr. Nolta’s and Dr. Thompson’s respective projects could lead to effective treatments.

The impact of our work

Interviewing Dr. Thompson in her office on January 20, I felt a deep sense of accomplishment.

In an instant, I felt as if time had fast-forwarded me from 2007, when she and I prepared intensely to organize the CIRM Spotlight on HD, to the present, when the results of the statewide advocacy efforts are blooming in the UCI labs.

I had advocated with and for Dr. Thompson, and now I was sitting across from her and hearing good news.

Dr. Thompson (left) with Frances Saldaña at the Huntington's Study Group meeting in San Diego, October 16, 2010 (photo by Gene Veritas)

In voting for the CIRM, and then advocating for specific HD projects, we had achieved a historic breakthrough for HD research.

In hearing Dr. Thompson discuss the establishment of a new stem-cell line from the PGD embryos, I felt how profoundly political our advocacy has been, and how it directly impacts the quest for treatments and a cure.

The moment was exhilarating.

Gene Veritas: Back when the big controversy was occurring, when Bush said, “No more new lines,” this is a --

Leslie Thompson: A new line.

GV: This is a new line that, thanks to the CIRM and the law in California, was supposed to occur.

LT: Thanks to the CIRM. Correct.

GV: So we’re seeing an actual impact of a political decision here to do something.

LT: Yes. All of it. All of [the stem-cell work]. Because we wouldn’t be able to do this work without CIRM funding.

We can all advocate for the cause

Advocacy is one of the biggest challenges for the HD movement. It demands long hours of preparation, the study of complex issues, networking, and efforts to gain access to public officials and other powerful individuals.

It also requires patience, dedication, and teamwork. We California advocates have recognized these requirements and tried our best to practice them.

On the stem-cell front, we have in our favor a great set of universities with top-flight scientists like Dr. Nolta and Dr. Thompson. Both are well-known in the HD community, and both dedicate time outside of work to supporting it. Dr. Thompson finds inspiration in HD families. A newcomer to HD research, Dr. Nolta took on this new field after coming into contact with the local HD medical specialist, Dr. Vicki Wheelock, and the community she serves.

Advocates and scientists have meshed well throughout the crusade for stem-cell treatments.

Finally, I believe our advocacy has proved effective because of the willingness of affected families to tell their stories in public – despite the pain or awkwardness it might cause – at CIRM meetings and to the doctors and physicians involved in HD research.

All of us in the HD community can become advocates. We need people to work on all levels – from meeting with government officials to writing letters. And we must always speak out.

You never know. Someone with the willingness and resources to help might just be listening. You can inspire that person to act.

(To learn more about California HD advocacy, please click here. To learn about national advocacy efforts, please click here.)

Let’s turn grief for ‘HD Angels’ into new impetus for the Huntington’s cure

2012-01-17T08:05:00.000-08:00

The Huntington’s disease angels are sending us all an urgent message: we must redouble the effort to find effective treatments and a cure for this devil of a disease.

In the past few days, two more HD angels – children who have succumbed to this disease – have passed on.

On January 11, nine-year-old Kathleen Edward died while surrounded by loved ones in her Wyandotte, Michigan, home.

Kathleen and grandmother Rebecca (family photo)

On January 15 another child, twelve-year-old Olivia Ruggiano, died in Philadelphia.

While HD affects people of all ages, the ten percent of cases classified as juvenile Huntington’s disease (JHD) wrenchingly dramatize the disease’s crippling effect. Children and teenagers afflicted with JHD never experience a normal life. As in Kathleen’s and Olivia’s cases, some don’t even reach adulthood.

Together with Kathleen’s and Olivia’s families, the HD community grieves deeply: two young lives ended hopelessly.

Their deaths provide a startling reminder of the lack of treatments.

These HD angels want us all to cry out for increased funding for HD research – including the understudied juvenile onset – and a commitment from drug developers to broaden and speed up the search for treatments and a cure.

Two brave girls

In life, both Kathleen and Olivia had received an outpouring of sustenance from the HD community and beyond.

In 2010 a hateful neighbor, upset over a misunderstanding about a children’s birthday party, started feuding with Kathleen’s family. The neighbor bullied Kathleen on Facebook by posting a photo of the girl positioned over a set of crossbones. Another photo showed Kathleen’s HD-stricken mother in the arms of the Grim Reaper.

News coverage of the incident spurred donations to the family and expressions of support from around the world. Thanks to many generous individuals, Kathleen had the opportunity to go on a shopping spree – but only after first choosing gifts for her family members. (Click here to read more about this incident.)

“Olivia was a normal child who loved to wear frilly dresses with dirty knees while digging for worms,” Olivia’s mother Jennifer wrote on a fundraising site for the Delaware Valley Chapter of the Huntington’s Disease Society of America (HDSA). “Strong willed but always ready with a smile, giggle or hugs. She began showing developmental delays at 4 1/2, a slight lisp, uncoordinated, tripping a lot, dropping things.”

Olivia and friend at HDSA fundraising walk

“Then the focal seizures came, the first one being discovered the last day of day care before starting kindergarten,” Jennifer continued, referring to how Olivia would lean back and prop up her head, and then let her head drop into her lap. “We thought she was just being difficult or having selective hearing. Then they developed into stronger more intense seizures. Late in December 2007, right before Christmas she went into status (non-stop seizures).... Since then she has been on a spiral downhill.”

On a Facebook page titled “We All LOVE Olivia Ruggiano,” supporters and members of the HD community left Olivia a constant stream of encouraging messages as she struggled against the disease. Jennifer and other family members read the messages out loud to Olivia and, holding up a laptop, showed her the pictures people had posted.

Words of support

At Kathleen’s funeral on January 14, so many mourners turned out that the funeral home ran out of the flags fastened to cars in the procession to the cemetery, Rebecca told me via Facebook. Kathleen was buried next to her mother Laura Edward, who died of HD in 2009.

The Detroit Free Press ran two articles about Kathleen.

“Those who knew 9-year-old Kathleen Edward will never forget her infectious smile, one seen throughout her battle with juvenile Huntington’s disease,” one of the articles began.

The paper quoted grandmother Rebecca: “She suffered with this disease for a while, and she never complained,” Rebecca told the paper. “She was always happy, always smiling.”

You can watch a tribute to Kathleen in the video below.

After the two girls passed, scores of Facebook members expressed their condolences.

“We are all in mourning over Olivia leaving us,” one HD activist wrote on Olivia’s Facebook page. “Heaven is rejoicing to receive angel Olivia where she can be closer to everyone’s heart.”

“Know that we are with you in spirit,” another supporter wrote. “It’s going to be hard, but as Olivia was strong, you are also. Smile thru your tears. She is free. Love to all of you.”

News of the girls’ deaths and condolences also went out on other HD Facebook pages, including two dedicated to HD angels, Rebecca’s page, and Olivia’s mother’s page.

Viewing of Olivia will take place at Stolfo Funeral Home in Philadelphia 7-9 p.m. on January 19 and 8:30-10:30 a.m. on January 20, followed by a funeral Mass at 11 a.m. at Stella Maris Parish. In lieu of flowers the family requests donations be made to the Philly HERO Trust, P.O. Box 18008, Philadelphia, PA 19147.

Remembering the Ruggianos’ fight

In a phone conversation last night, Jennifer graciously recalled Olivia’s and her family’s fight against HD.

Jennifer started dating Ron Ruggiano in 1994, the same year his mother died of HD. Jennifer and Ron married in 1996.

As in many HD families, the disease was “a taboo subject in his family,” Jennifer said. But his mother’s death alerted Jennifer to the existence of the disease in the family. She contacted HDSA and learned what she could about the disorder, including the fact that a male could pass on a far worse form of the disease than he himself has.

Ron had not been tested for HD, so the couple knew that having gene-negative children was “a roll of the dice,” with a 50-50 chance of their children inheriting the defective gene, Jennifer recounted. In 1997 they had a daughter, Rania, who has not demonstrated symptoms of JHD (but has not been tested). Two years later, Olivia arrived.

Ron started to show the behavioral difficulties that often occur in the early stages of HD. In 2000, he was clinically diagnosed with the disease.

An astounding level of disease

On that fateful last day of daycare before kindergarten when Olivia had seizures, “she was speaking gibberish and not making any sense at all,” Jennifer remembered. “It just mushroomed from there. She was clumsy. She would fall down and trip a lot.”

Nevertheless, Olivia entered elementary school, where she participated in a small life skills class for the severely disabled. She stayed almost through the end of fifth grade.

Olivia (family photo)

“Sometimes she didn’t want to go to school,” Jennifer said, chuckling, “but she went. Sometimes she would fake her seizures. She was a smart little cookie.”

In 2007 both Olivia and her father finally underwent HD testing at Johns Hopkins University in Baltimore. Whereas a normal huntingtin gene has only ten to 29 repeats, Ron’s had 50 – ten repeats beyond the level that causes HD. Olivia had an astounding 109 repeats – a number that doomed her to childhood onset and an early death.

Olivia’s joys

Despite this terrible fate, Olivia strived to live like any child.

“She loved to dance,” Jennifer reminisced. “She loved to sing. She loved to watch musicals: of course, the Wizard of Oz, Grease, any kind of musical, Hairspray, all the Disney movies.”

Olivia also loved to help her mother cook and care for the home. She wouldn’t miss a chance to play in the pool at her cousin’s house or visit the New Jersey shore with her family.

Olivia was a “little devilish” in everything she did, Jennifer said. And she had a fascination with bugs. “She could spot an ant ten feet away,” Jennifer said, laughing.

With Ron unable to work, he received Social Security disability payments. Olivia further supported the family with her salary as a legal clerk in the Pennsylvania courts. A heavy emotional burden also fell onto Rania, as she watched her mother pay ever greater attention to Olivia.

The family dealt with HD as proactively as possible, Jennifer explained. In 2008 doctors gave Olivia a feeding tube to keep her properly nourished.

Meanwhile, in February 2010, Ron entered a nursing home, where, at 43, he struggles against HD.

A turn for the worse

Olivia’s health worsened dramatically in December 2010. She spent nearly the entire month hospitalized.

Just ten days after returning home, she developed an infection. “That’s when I made the decision not to take her back to the hospital,” Jennifer said. She decided that Olivia would live at home until she died.

Olivia continued to decline throughout 2011.

“She was on so many medications,” Jennifer recalled. “She was taking 40 milligrams of valium every four hours.”

Along with Olivia’s nurses, the family kept Olivia as comfortable as possible. On Thanksgiving Day, for example, they dressed her up in a pink dress and sweater and placed a pink flower in her hair. “Her nurses absolutely spoiled her,” Jennifer said.

Olivia at home on Thanksgiving Day, 2011 (family photo)

Olivia’s legacy

I asked Jennifer about Olivia’s legacy.

“She’s just another bright light,” she said, “another child that just fought … and fought … and fought.”

As an HD angel, Olivia will inspire others to fight – and will also contribute to the search for treatments and a cure. Months after undergoing genetic testing, both she and Ron donated cells for research. As Jennifer explained, researchers were able to make the cells from Olivia’s forearm reproduce and are hoping to induce them into becoming stem cells. Olivia’s cells could eventually end up in labs around the world that focus on developing treatments for HD.

Time for treatments

After learning about Kathleen and Olivia, my wife and I became saddened and distraught. Once again we relived the painful moments of 1999 and early 2000, when I tested positive for HD and we subsequently tested our daughter in the womb.

Our “miracle baby” tested negative, but had she inherited the HD gene, my wife would now face the terrible prospect of caring for two HD patients.

I became angry and depressed that HD had once again victimized families, and I feared that my own symptoms might start soon, leaving my unable to work and to enjoy my own family.

I also felt the urge to fight back.

“We must find treatments and a cure so that no more children suffer with Huntington’s disease,” I wrote on Olivia’s page.

The angels have fought bravely, but our community wearies as it sheds yet more tears of sorrow.

We need treatments now.

Seven years of striving for a realistic and unapologetic view of Huntington’s disease

2012-01-08T21:16:00.000-08:00

This week marks the seventh anniversary of this blog.

On January 10, 2005, I inaugurated the blog with this sentence: “My name is Gene Veritas and I am at risk for Huntington’s disease.” The article was titled “Huntington’s disease: an early date with mortality.” I adopted a pseudonym – the “truth in my genes” – to protect my family’s privacy, avoid genetic discrimination, and express myself freely.

I wasn’t sure where the blog would go, but since then I have written a total of 118 articles, exploring in depth the many facets of HD.

Baring my soul

I have bared my soul about HD. I have chronicled my mother’s downfall and my devastation after her death, my father’s dedication as her “HD warrior” caregiver, and my conversations with my daughter about HD as she moved from early childhood into the pre-teen years. I inherited the HD gene from my mother but, as my wife and I thank God, did not pass it on to our “miracle baby.”

I also have tried to document the completely new, little-known, and harrowing human experience of living in the gray zone between a genetic test result and disease onset. Along those lines, At Risk for Huntington’s Disease has served as both a coping mechanism and method of advocacy. I have written frequently about my fears – and of my frenetic activity in the effort to defeat HD. For me it provides catharsis – and a stimulus to my brain in the hopes of staving off HD’s inevitable symptoms.

For a community desperate for good news, I have strived to make At Risk a beacon of hope. I have reported from the frontiers of science in articles about research conferences and potential treatments such as the effort by Alnylam Pharmaceuticals to devise a drug to stop HD at its genetic roots.

And the blog has helped me to exit the terrible and lonely “HD closet,” where I long hid because of fear of genetic discrimination. In February 2011, I gave the keynote address at the “Super Bowl” of HD research, the sixth annual HD Therapeutics Conference of the CHDI Foundation, Inc. (CHDI,backed by wealthy, anonymous donors, is the so-called “cure HD initiative.”) I posted a video of the speech in the blog. Since then I have written about other public speeches and posted videos from them.

Valuable lessons

I also have explored the many lessons gained from my fight. I have learned to put life in a broader perspective, to pay greater attention to my family, and to value the preciousness of time. Like Michael J. Fox, I consider myself a “lucky man” because of the richer life I have lived.

In At Risk, I have confronted the deep challenge to my Catholic faith posed by the threat of HD. That threat led me to explore the spiritual dimensions of my struggle, and it has strengthened my faith and expanded my understanding of life’s purpose. I embrace a new kind of faith – not one of passive acceptance of one’s condition but of active transformation of the world.

The threat of HD and my role as blogger have given me an important mission: to stop the suffering caused by brain diseases.

Difficult truths

The more I have enmeshed myself in the far-flung HD community, the more I feel the urgency of my mission.

When I write, I feel raw anxiety as I am forced to contemplate my gene-positive predicament. I share that anxiety with many in our community as they struggle with symptoms or worry about onset. The lack of an effective treatment, much less a cure, further deepens our collective fear, pushing many people into the closet and away from the research studies and clinical trials necessary for finding solutions.

Indeed, because of the harrowing nature of this existence, I often feel as if the articles somehow write themselves – as if a mysterious, hidden hand were assigning me each topic and guiding my fingers across my computer keyboard.

At Risk has stirred emotions and shed light on difficult truths in a community where silence and stigma are too often the rule.

This past year was especially intense. I wrote 33 articles, and my audience grew as I expanded my blog e-mail list and increased my number of Facebook friends to more than 2,000. In June the Huntington’s Disease Society of America named me its 2011 HDSA Person of the Year for my advocacy and blogging efforts.

In 2011, I focused on such difficult topics as HD and dating, conflict and competition within and among the various HD organizations, and the need to combat complacency to generate enough volunteers for the upcoming clinical trials.

My article about the media and the astronomical rate of suicide in the HD community prompted one activist to request that I stop posting links to my blog on a Facebook page for young people and HD.

While my training as a journalist and a historian might have prompted a response emphasizing free speech – why should someone else deny others information? – HD has a way of challenging any belief in absolutes. I agreed to let the activist serve as a gatekeeper for that Facebook page and to decide whether to post my articles.

Challenging absolutes: HD and abortion

Just last month, the issue of absolutes was tested in a way many readers found personal, and painful.

I tackled – as fairly as I could – the issue of HD and abortion, examining the cases of two families, one opting for genetic testing and termination, the other forgoing testing and deciding to carry the pregnancy to term.

Interviewing the families and writing the articles presented one of my most difficult challenges in nearly 14 years as an HD advocate. Hearing their stories stirred up sad memories of the horrible weeks of worrying and wondering as my wife and I awaited the results of our daughter’s HD test in early 2000.

I received a record number of comments on the blog as well as numerous comments on Facebook.

Some commentators described the first family as “murderers.”

“I think that posting this article glorifying the killing of a baby is irresponsible of you,” wrote one commentator who opposes abortion and hadn’t slept for two nights after reading the first article. “You are a powerful voice in our community, and I am disappointed in your blog, especially around the holiday season…. It is sad that a family who kills their baby because it has the gene for HD is glorified.”

Others warned against passing judgment, urging compassion for families facing such terrible choices.

“I really absolutely admire your bravery in exposing this disease in a realistic and unapologetic way,” wrote Stella, another gene-positive blogger, in response to the same article. “As for this family, I wish I could just hug them all.”

Combating stigma (again)

My articles led Dr. LaVonne Goodman, the founder of Huntington’s Disease Drug Works and physician to several dozen HD patients, to write a scientifically informed article on “choice and reproductive decision-making in HD.”

In this balanced piece, Dr. Goodman referred to the deep controversy raised by my articles and once again raised the crucial question of stigma and its stifling impact on HD families.

“Those who are affected by identifiable genetic disease like HD suffer not just from societal and intra-family stigma – but also from internalized stigma that we have ‘learned’ from others, and incorporated into self,” Dr. Goodman wrote. “Often internalized stigma has great negative impact on HD individuals and families…. How many decisions are made because we hate aspects of ourselves – not just the disease?

“The goal is to make life worth living: No one should answer for another whether life was, is, or will be worth living [just] because HD gets bad for a long time at the end. Instead all of us, our HD institutions, our organization, and our families should put more energy into improving treatment and care for those with HD, so that lives become more worth living. And we should work to identify, describe, and decrease HD stigma – which adds so much burden for all in HD families. And in regard to helping with reproductive decisions we should work to provide non-discriminatory support and easier voluntary access to PGD [pre-implantation genetic diagnosis] with attention to supporting the emotional and financial costs involved in this procedure.”

No need to apologize

I often wonder: how many tragic stories do we never hear because of people’s inability or unwillingness to exit the HD closet?

Indeed, because of understandable but unfortunate feelings of stigma, our community often seems timid and even apologetic – precisely the attitude that we can and should combat. Everyone can contribute to this effort – by participating in a support group, joining the local HDSA chapter or affiliate, or volunteering at fundraising events.

No one should apologize for having HD, living at risk, caring for an HD person, questioning the scientific and organizational status quo, or raising awareness!

We all rely on denial to get over the daily fear of HD, but ultimately we must compartmentalize denial and confront the truth of our existence.

No one need hide the hard reality of HD. It is a fact of our lives – and a crucial event in the quest to control neurological disorders and improve the overall health of the brain.

The next seven-year cycle

In popular wisdom, life proceeds in seven-year cycles.

Seven years ago, I fully expected that by now – age 52 and the time of onset of my mother – to have symptoms and be unable to write. I have been extremely lucky in remaining asymptomatic.

I fervently hope to proceed through my next seven-year cycle without symptoms. Until a treatment is found, this can only mean an even deeper commitment to the cause – but also to enjoying the healthy moments, the blessing of each symptom-free day.

During this new cycle, my daughter will grow into a young woman and prepare to head off to college.

Will I stave off HD in order to help her reach her goal and watch her enjoy her own life?

Or, in a darker scenario, will she become my caregiver and perhaps even shoulder the task of writing occasional updates to this blog?

These kinds of questions will haunt my days as I await news of a treatment.

No matter what the outcome, I will proceed as unapologetically as ever.

Striving for brave new brains

2012-01-02T15:24:00.000-08:00

As I turned 52 on December 31 and a new year dawned on the world, I came ever closer to onset of Huntington’s disease, the cruel killer that took my mother’s life in 2006 at the age of just 68.

However, in 2012 I also will live with the hope that, as science and medicine progress with time, researchers will control and perhaps even eradicate HD.

Indeed, we stand on the verge of a new age. Neuroscience, brain scans, our understanding of genetics, and brain-machine interfaces will vastly improve the health and capabilities of the brain and perhaps enable the cure of HD, Alzheimer’s, Parkinson’s, Lou Gehrig’s, stroke, and numerous other maladies of the central nervous system.

On Christmas and my birthday I was able to celebrate the results of my annual check-up at the local HD clinic on December 20: the doctor marveled at how, despite carrying the same genetic defect as my mother, I have yet to show any apparent external symptoms of the disease (click here and here to read about my HD-avoidance strategies).

With the predicted biotechnological advances, those of us who are gene-positive may someday put bionic brains on our birthday wish lists – brains without risk of HD and that enhance mental capabilities far beyond anything we can currently imagine. Even sooner, advances in medicine may deliver drugs and techniques that counteract the cruel changes wrought in HD brains.

Breathtaking predictions

I contemplated these possibilities during my holiday reading, which included Judith Horstman’s The Scientific American Brave New Brain: How Neuroscience, Brain-Machine Interfaces, Psychopharmacology, Epigenetics, the Internet, and Our Own Minds Are Stimulating and Enhancing the Future of Mental Power, an exciting, easy-to-read synopsis of recent advances in brain science.

Horstman outlines how brain scientists predict breathtaking breakthroughs by mid-century – most with a firm foot in current reality.

According to scientific forecasters, “computer chips or mini-processors in the brain will expand memory; control symptoms of brain disease, from Parkinson’s disease to depression and anxiety; and wirelessly receive and transmit information so that you won’t need a cell phone or a computer to stay in touch.”

“Brain surgery will be a thing of the past except in the most severe cases,” Horstman continues. “Advanced neuroimaging will identify mental illness and brain disease before symptoms show and in general be used to ‘read’ minds and predict and control behavior. Microscopic robots – nanobots – will enter your bloodstream to diagnose and repair brain damage. Protein molecules will travel your brain in a similar way to turn on or off brain cells or genes responsible for brain diseases.”

Brave New Brain explores numerous other current and potential facets of brain health and related technologies, including:

● neurogenesis (the growth of new brain cells);

● deep brain stimulation and “brain pacemakers” (using electricity to stimulate brain health and performance);

● brain-nurturing mental and physical practices such as meditation, breathing, and yoga;

● the impact of digital technology on the brain and its integration into the brain;

● artificial intelligence;

● miniature cameras for broadcasting images of the inner workings of the brain;

● thought-activated neural implants (for example, for working mechanical limbs);

● prostheses of portions of the brain (people are already living with artificial retinas and cochleas, the auditory portion of the inner ear);

● and, in one forecaster’s view, the downloading of our brains onto chips “so our consciousness can live on forever, perhaps even downloaded into robots – or into an avatar, an ageless biological clone,” perhaps making us an endangered species increasingly replaced by cyborgs.

“Neuroethicists” and others worry that “humans will become machines,” Horstman observes. These individuals also point out new issues involving privacy in genetic testing; ownership of body parts, tissues, and genes; insurance discrimination; potential abuse of new technologies by employers and others; and the impact of all of these changes on social equality and our way of controlling criminals. Neuroethicists are grappling with these many issues.

Curing dementia

According to Horstman, Alzheimer’s, other dementias, and perhaps even mental retardation will be “preventable, curable, and even reversible in many people.”

The demand for cures is immense: some two billion people worldwide suffer from a brain-related illness, with an annual economic cost of more than $2 trillion, Horstman writes. Almost half of all people over age 85 develop dementia, and by 2050 an estimated 100 million individuals will experience this condition.

Offering a glimpse of how these cures could take place, Horstman writes of “brain boggling” nanotechnologies such as “preparing specialized protein molecules that swim to a predetermined site and are activated externally by probes or lasers that turn off or on specific genes.”

This kind of “nanomedicine” would allow medical treatments to leap across the formidable blood-brain barrier, which separates the bloodstream from the fluid that bathes and cushions our brains, Horstman explains.

Alnylam’s HD gene-silencing trial

The trends in neuroscience and related fields mean that scientists someday will likely control HD and perhaps, as Horstman describes, completely turn off the gene that causes it.

Key research in “gene silencing” already holds great promise.

In partnership with Medtronic, in 2012 Alnylam Pharmaceuticals plans to apply to the federal Food and Drug Administration (FDA) to conduct a Phase I clinical trial of a drug containing ALN-HTT, a small interfering RNA molecule (siRNA) that doctors will inject into the brains of trial participants.

Conducting a brain operation, doctors will run thin tubing under the skin from a Medtronic-designed pump to a nodule at the top of the patients’ heads, and from that point a very fine needle will deliver the drug into the putamen, one of the regions of the brain most devastated by HD (click here to read more).

If the Phase I trial demonstrates the safety of ALN-HTT, Alynlam will proceed to Phase II to measure the efficacy of the drug.

Alnylam intends to use ALN-HTT to silence the huntingtin gene so that less huntingtin protein is produced to harm brain cells. If successful, the treatment would save brain cells from dying and slow down and possibly even reverse the course of HD.

A decade ago, this approach seemed like science fiction. Today, it provides immense hope that HD will be controlled in our lifetimes.

On December 28, 2011, Alnylam presented a highly positive report: testing of ALN-HTT in non-human primates demonstrated “widespread distribution of the siRNA and significant silencing of the huntingtin mRNA.” The drug was well tolerated.

Conducted in collaboration with Medtronic and a research team at the University of Kentucky, the study will greatly facilitate the FDA application for a human trial.

Isis Pharmaceuticals, Inc. is developing a similar approach for treating HD and hopes to apply for its own Phase I clinical trial, perhaps within the next year or two (click here to read more).

The pioneering HD community

As Horstman describes, such gene silencing techniques only scratch the surface of the great potential in brain-disease treatments. Indeed, we may someday look back on these initial attempts as primitive.

But they are revolutionary. We in the HD community are helping to pioneer this revolution in brain science by participating in research studies and clinical trials, fighting the terrible stigma associated with the disease, and, as I did last February, exiting the terrible “HD closet” to tell the world about the need to defeat HD and other neurological disorders.

HD families no longer stand alone. Our movement has gone global – with international conferences run by research organizations, numerous HD-related websites, and the establishment of Enroll-HD, a multi-country database of HD-affected, gene-positive, and untested at-risk individuals. Just last month a new HD group formed in China, the world’s most populous country.

We stand on the frontier of science, and for this reason in 2012 and beyond we can forge ahead proudly and bravely.

It’s up to us to lead the way. If we all unite and participate in this great movement, we can help build toward the bionic brains of the future.

Kate's untested baby (Huntington’s disease and abortion – Part II)

2011-12-18T11:52:00.000-08:00

Kate Sandbulte, a 20-year-old woman who lives in Iowa, long lived life to the fullest.

Her mother, Tara Hansen, recalled that Kate was “was always doing ten different things at one time.” For example, as Tara has written, Kate was a “very fast learner and was able to capture the hearts of anyone who crossed her path. She learned to walk at nine months of age and was speaking in full sentences by the time she was a year old. She grew into a feisty little girl.... She was very smart and was often found to be a peacemaker and could be found defending anyone who was hurt or sad” (click here to read more).

Kate loved painting, played basketball and the clarinet in junior high, and adored the 1960s, from Janis Joplin and heavy metal to peasant blouses and flare jeans. She helped raise three half-brothers.

“She’s always been the kind of kid who can roll with the punches,” Tara added with pride. “She never gets too upset about anything.”

Two big blows

However, Kate has faced some of the biggest blows that life could possibly level. For the past five years, Kate has had juvenile Huntington’s disease. Now she is pregnant with an unexpected child, who has a 50% chance of being gene-positive.

Although Kate could test the first trimester fetus for HD, she has decided not to. She plans to have her baby, even though both she and the child might not live beyond their mid-30s, and she and the baby’s father do not plan to marry. Fortunately, Kate can rely on her mother, who’s still in her 30s and has pledged to do all she can to take care of Kate and the child.

“She was on two forms of birth control, and it was not planned,” Tara told me in a Facebook message after I had seen her November 26 post announcing Kate’s pregnancy. “She always said that if she had HD, she didn’t want a baby because of the chance of passing it on. She cried for a week after reading the pregnancy test. She worried just as any mom would about the baby’s health and the effects of the (HD) meds she was on.”

“But then she saw the heartbeat of the baby,” Tara continued. “She cried tears of joy and is now taking better care of herself and now has hope for her baby. She said, ‘Perhaps this child can offer you comfort when I am gone, Mom.’ She knows God gives life for a reason. And no matter what – HD or not – this child will be loved, just as she is.”

Kate (left) and Tara at the HDSA national convention in Minneapolis in June (family photo)

Personal thoughts

Kate’s decision to risk passing on juvenile HD represents the other side of the coin of the wrenching decision made by the Wright family of Florida to abort their gene-positive, premature infant son and donate his brain for research towards treatments and a cure.

The first of this two-part series on HD and abortion – my article on Christina, Michael, and Timothy John Wright – provoked the most heated reaction by readers since the blog’s inception some seven years ago. (Click here to read the article and reader comments.)

Both families cited deep religious convictions as guideposts for their decisions. The Wrights are Catholic, and Kate and her family belong to a non-denominational Christian church that stresses love and the equality of all people.

As I interviewed and wrote about the two families, it stirred difficult memories of my wife’s and my decision to test our daughter in the womb in the winter of 1999-2000, just six months after I had tested positive. Luckily, our “miracle baby” tested negative. She is a thriving sixth grader now applying to college-prep schools.

I told the Wrights that I supported their decision.

I also support Kate’s decision. During my phone interview with Tara, I congratulated her and her family on the pregnancy and expressed my wishes for a healthy baby.

Kate can still talk but preferred that her mother answer my questions. HD has already compromised her ability to communicate clearly, Tara said. “I’m kind of like her safety net,” she added.

Along with the rest of the HD community, I sincerely hope Kate’s child is HD-free.

“Both stories need to be told,” Tara said. “They bring up a lot that people don’t want to talk about.”

Rejecting rigid views

My support for both families may appear contradictory to some with rigid or black-and-white views, but, as I pointed out in the previous article, “the disabling, ultimately deadly nature of HD further complicates” decision-making. As my wife put it, “Nobody knows for sure until they’re actually faced with the decision.”

Indeed, all of our stories reveal the tragedy of HD and touch on larger controversies about abortion, suicide, and mercy killing.

One participant in the debate over the Wrights subsequently recalled on Facebook the case of Carol Carr, a Georgia woman who in 2002 shot dead two sons who had been confined to a nursing home with late-stage HD. She was convicted of assisted suicide and released on parole two years later. (You can view a documentary about the Carr case by clicking here.) The Facebook commentator seemed to become less rigid in her critical view of the Wrights.

Dead at 33

Living in a small town, Tara and her ex-husband Jeff Sandbulte had Kate when they were, respectively, just 18 and 16. Jeff had told her that his parents had died. In reality, Jeff’s father was already in a nursing home with HD, Tara said. He would eventually die in his forties.

Jeff also had juvenile HD. “We started dating,” Tara said. “I got pregnant with Katelyn. I didn’t know a whole lot about the disease. I had never even heard of it.”

Tara didn’t perceive Jeff’s symptoms at the time, but in hindsight she now understands that he clearly had HD. “Knowing what I (now) know about HD, yes, he did show signs, like lack of impulse control, losing weight, sleeping a lot, and loss of temper,” she said.

Jeff and Tara married in 1993, but the relationship became rocky, and she left him a year later. According to Tara, Jeff went to prison for a number of years and had virtually no contact with Kate and Mikey, the couple’s second child. Mikey, in fact, only saw his dad once. The couple officially divorced in 1996.

In 2000 Tara, a veterinary technician, remarried to Mike Hansen, a cement truck driver. They have three children together, six-year old Landon, five-year-old Shawn, who has Asperger’s syndrome, and four-year-old, Gabe, who was premature but is now thriving. Tara also suffered a miscarriage of twins in 2007.

Jeff died in 2006 at the age of 33. Other members of the extended family have also fallen victim to HD, including a deceased cousin of Kate whose symptoms started at 14 and another cousin, now 30, who resides in a nursing home.

Struggling with risk

More than Kate, Mikey grew up worrying about HD, because of his biological father’s situation. She showed more concern for him than for herself.

“She was very supportive of him as he was going through it,” Tara said. “Her deepest fear was that Mikey would have it. He was sure he had it because his biological father had it.”

Even Mikey’s doctors thought they saw signs of the disease. (Untested, at-risk people often act out symptoms, as do gene-positive, asymptomatic people like me.)

Perhaps because he saw his future compromised, Mikey hung out with people who were bad influences and letting his grades slip. After he became addicted to pain killers, Mikey had to enter a treatment program, Tara said.

An HD-free brother

HD testing centers usually advise against testing minors for HD because of the severe psychological impact of the potentially devastating information. However, in Mikey’s case, the family decided to test him in July 2009, when he was 16, because the prospect of HD had subjected him to enormous psychological pressures.

However, the medical profession has not fully grappled with the need to provide genetic testing information with sensitivity and competence. As I pointed out in the previous article, the Wrights received their baby’s test results in an unprofessional manner. Mikey suffered a similar fate.

A staffer from the doctor’s office called the family and asked for “Mike,” not identifying him by his last name. But it was not Mikey Sandbulte who answered the phone, but Mike Hansen. He was abruptly told his test results were “negative. If you have any questions, please call.” The staffer then hung up.

“They didn’t even make sure they had the right person on the line,” Tara said with indignation, noting that the proper procedure would have involved visiting the testing center and meeting with a geneticist and social worker so that the information – even happy information like a negative test – could be processed in person. The social worker became “irate” when she learned what happened, Tara added.

Luckily, Mikey was still at the drug rehab clinic. The family took his girlfriend Andrea to the clinic so that she could break the good news.

“He hit the ground on his knees and kept saying, ‘Oh, my God!’ He said, ‘I can’t believe it.’ It was like this big weight lifted off his shoulders. His whole demeanor changed – everything.”

Today, free of the spectre of HD, Mikey not only went through rehab successfully but has remained drug-free.

Kate’s onset

Like her brother, Kate also showed symptoms starting at the age of 15. In her case, she wasn’t acting out.

“That’s when her personality changed,” said Tara. “When she turned 16, she went through a terrible weight loss. She was at 130, and she went down to 98 pounds in a three-month period. We as parents are thinking, ‘She has an eating disorder.’ She would eat all the time.”

Her family also noticed periodic tremors in her hands.

HD patients typically lose weight, as did Kate. Scientists suspect the cause stems from energy shortages in the body’s cells caused by the defective huntingtin gene, as well as chorea, the constant shaking and dancelike movements most patients develop.

Kate (family photo)

Kate struggled in high school and ended up attending an alternative school. She had difficulty remembering things, too. “Hindsight is 20-20,” Tara recalled, “but at the time we thought Kate was just an airhead.”

“I look back now and I can remember struggling in school and being angry that I could not ‘get it,’” Kate wrote in her blog. “We had meetings with my teachers and I would tell everyone I was trying. I was sleeping a lot and skipping school. I was trying but for some reason it just would not stay with me. I know I was mad about that. I got mad at Mom and Dad for not understanding. Up to this point I had been an honor role student in all but math.”

Still the same person

Just a few months after Mikey’s genetic test, Kate and her family braced themselves for another test.

In October 2009, at the age of 18, Kate received her results, which confirmed the symptoms she had been showing and pointed to an ominous fate. Whereas a normal huntingtin gene has only ten to 29 CAG repeats, Kate’s has 57, a number that most surely will doom her to an early death like her father, grandfather, and other relatives.

However, Kate took the test result in stride.

“‘Hmm. Thanks.’ That is all she said,” Tara recalled. “She said, ‘It doesn’t change anything. I’m still the same person I was yesterday.’ She was working part-time at a local gas station. She went into work. She said that her test had come back positive. They said to take off and go home to be with her family.”

As for the family’s reaction, “we followed Kate’s philosophy,” Tara added.

Experiencing life

It wasn’t that easy, however. Two weeks after her test, Kate lost her job because of her difficulties with memory.

Despite the progression of the disease, Kate graduated from high school.

“She walked across the stage and got her diploma,” Tara said with pride.

After high school, the family helped Kate move into her own apartment so that, in Tara’s words, she could “experience life the best she could” before the symptoms worsened. To avoid the chance of an accident resulting from the loss of coordination typical in HD, Kate started driving less. Yet she still enjoyed being a “typical young adult,” spending time with friends.

Shawn (left), Gabe, and Kate (family photo)

Kate and her family then moved into another home equipped with features that would facilitate future caregiving needs, including a large bathroom and wheelchair accessibility.

With the help of Iowa’s Center of Excellence for Family Services and Research of the Huntington’s Disease Society of America (HDSA), the family obtained Social Security disability benefits for Kate. She now receives a monthly payment of $426. Medicare and Medicaid cover her medical bills.

Failed birth control

At a town celebration, Kate met a 29-year-old man named Billy. They started dating.

“The average person wouldn’t know that she’s disabled,” Tara said, explaining how it was natural for Kate to relate to men. “She has chorea and twitches, and she’s terribly forgetful. Other than that, she’s just a typical 20-year-old kid.”

To avoid pregnancy, Kate took Depo-Provera, a birth-control shot. She also took a low dose of a birth control pill in order to help reduce cramping and regulate her menstrual cycle.

Then both Kate and her mother took note of a missed period.

“I pulled into Walgreen’s and got a pregnancy test as a joke,” said Tara. “I didn’t think she was going to take it. She came out of the bathroom. She said, ‘It’s positive,’ and she started crying. I gave her a hug, and we just sat there.”

Kate’s baby is due on July 4, 2012.

‘In God’s hands’

Kate, Billy, and Tara met with a genetic counselor. Tara mainly stayed “in the background,” letting the young couple experience the happiness and worries of first-time parents, she said. The counselor informed them of the 50-50 chance that the baby would inherit the HD gene, but he did not advocate a course of action. The counselor said there was “no right or wrong answer,” Tara recounted.

Kate made a firm decision against both testing and an abortion.

“Even if she did test the baby, she wouldn’t terminate the pregnancy,” said Tara. “It was a struggle at first, after learning of the pregnancy. Once she saw the heartbeat, it was okay.”

Tara reviewed the options with her daughter, including abortion. “I don’t hide things from her,” Tara said. “I tell her that with juvenile HD, it could come on stronger and earlier in the baby.” Kate told her mother she was being “negative,” but Tara responded by emphasizing that she was simply laying out the facts.

“We just leave it in God’s hands,” she continued. “I can’t control HD. We all wish we could, but we can’t. In dealing with my little boy with autism (Asperger’s syndrome), people ask me if I knew, would I terminate my pregnancy. I say no.”

As for how the family will deal with so many potential caregiving burdens, Tara said that “we trust in God. The baby may not have HD. Shawn is high-function and our goal is for him to be a productive member of society. We will deal with the issues as they come up.”

Avoiding another pregnancy

After the baby is delivered, Kate and her family will take decisive action to avoid a future pregnancy.

“Kate is going to be sterilized,” Tara said, explaining that her daughter will undergo a tubal ligation, a procedure Tara also had after her last child’s birth. “She asked for this, and the doctor and I both support her choice – and even agree with it.”

Tara stressed that Kate initiated this plan and was not manipulated in any way. In fact, before Kate got pregnant, the mother and daughter had already discussed this possibility, although Kate declined at the time to have the procedure.

“It’s a choice that she’s making, because of the birth-control failure,” Tara explained. “She doesn’t want to go through the stress again of worrying about another baby."

I wanted to know if, in Tara’s opinion, sterilization violated God’s will in any way. She didn't think so. On this point she agreed with the Wrights, who believe that medical technology and procedures are “instruments” of God.

‘Preparing for war, praying for peace’

I wanted to explore more deeply the risk Kate is taking by not testing the baby. I asked Tara: wouldn’t a negative test put your minds at ease? And, without an abortion, wouldn’t a positive test help Kate and the family provide the best care possible for a diseased child or teenager?

“We did talk about this,” Tara responded. “Kate asked, ‘What would you do to prepare? What would the father do to prepare?’ He said: learn more about HD.”

Tara met with Billy and his mother to discuss the pregnancy and plans for raising the baby, especially because he and Kate will not marry.

“We as a family group need to be able to support that child,” Tara told me. “I said, ‘It doesn’t make a difference if it has HD or not.’ The end result of caring for the child and loving the child is going to be the same.”

In August, Tara obtained legal guardianship and conservatorship over Kate. These legal powers will also allow her to make decisions for the baby.

“In the end, I could force the issue if I wanted to, as her guardian,” said Tara. “But I’m going to respect her. Katelyn had 18 beautiful years without knowing (about HD). Life was what it was. Even now, she doesn’t think every day, ‘Oh, I have Huntington’s.’ That’s the way she wants her child to be raised.”

She summed up their strategy with these words: “We prepare for war, but we pray for peace. We prepare for the worst, but pray for the best.”

A plea for togetherness

After posting the news of Kate’s pregnancy, the family saw messages of support, but also what they termed “unkind remarks.”

For example, the Wrights criticized Kate for not testing the fetus and exploring their options.

Tara believed that the Wrights were “judging Kate.” According to her, they thought Kate was “selfish and hateful to carry a baby to term without getting it tested, that Kate had no right to give birth to a child that may or may not carry the HD gene.

“Kate was angered and hurt, as I was, from the post. When the other lady terminated her baby at 20 weeks, we supported her. We offered our prayers and love.”

When the Wrights received harsh criticism for their decision, Kate and her mother still stood by them. “I don’t agree with their choice but I ask our HD family to show the Wrights the same love you do to those of us who have a child or children living with JHD or HD,” the mother and daughter wrote.

Facing such extremely difficult situations, Tara told me, each family should make its own decision. She felt sad that “people showed anger and almost hatred toward somebody, especially when we’re fighting this horrible disease. The disease affects us all, and we should stick together.”

“In the end, it’s nobody’s business,” she said. “At the end of the day, it is up to the families, and each family has their own set of beliefs and morals. It is really up to the families to make the decisions for their loved ones, with or without society’s okay.

“I just want people to know: there are other options (other than testing and abortion). Do I understand where the Wrights come from? No. But I don’t judge them.”

A special gift from Landon

Kate, Tara, and the rest of the Hansen family are now turning their attention to welcoming a new member. Tara reports that Kate is doing well, although she consults with an obstetrician-gynecologist specializing in high-risk births.

“We’re planning on Kate doing what she can and us helping out where we can,” said Tara of the family’s post-birth plans.

They also hope to raise awareness about the need to cure HD in order to end the suffering endured by Kate, the Wrights, and the thousands of families afflicted by the disease.

Landon, the "Button Boy Fighting Juvenile Huntington's" (family photo)

Yesterday an early Christmas gift arrived at my home from six-year-old Landon. Landon makes HD bracelets and key chains. He sells them, as well as buttons promoting the HD movement. Last June, he even joined Kate and Tara at the annual HDSA convention in Minneapolis. Since then he’s raised $1,500 for the cause.

Tara told me that Landon is determined that his dollars “will find the cure.”

Landon sent my family a box with a couple bracelets, about a dozen buttons, family photos, and pamphlets and business cards for his work as the “Button Boy Fighting Juvenile Huntington’s Disease.” (You can contact Landon’s family at tanyon_24[at]yahoo.com. To donate, make checks payable to Landon Hansen and mail to 102 1st Avenue, Doon, IA 51235. All proceeds go to juvenile HD research at the University of Iowa.)

My daughter and I inspected the package’s contents.

“How old is he?” she asked incredulously.

“He’s six,” I responded.

She selected for herself a mini-button with the words “I Love Someone with Huntington’s Disease.”

“We have to spread the word,” Landon told his mother about his gift to us. “The more people understand, the better.”

An angel fighting for the cure (Huntington’s disease and abortion – Part I)

2011-12-11T21:35:00.000-08:00

Lying in a hospital birthing room, Christina Wright held her premature infant son Timothy John awhile in her arms and, after he died, handed his tiny body over for research that might help save her husband and thousands of others from Huntington’s disease.

On August 28, 2011, Timothy became an “HD angel,” yet another mourned but deeply loved victim of this killer brain disease. His brain was donated to a tissue bank at the University of British Columbia’s renowned research program on Huntington’s.

After the fetus tested positive for the abnormal gene that causes Huntington’s, Christina and her husband Michael prayed at their local church in Coral Springs, FL, and then decided to abort their child in the 22nd week of the pregnancy. Hoping all along that they might carry the baby to term, they had already given him a name.

For more than ten years, Michael has helped care for his 54-year-old mother Gail Suvino, now residing in a nursing home with late-stage HD. In October 2010 Michael himself tested positive for the disease. He is 34, and he worries constantly about when his own symptoms will start.

Christina and Michael Wright (family photo)

The ‘toughest decision’

Christina and Michael could not bear the thought of their son facing the threat of a life burdened with severe disabilities and ultimately cut short by years, if not decades.

“It was very hard for me,” Christina said with great emotion in a phone interview on December 8. “I didn’t know that he was going to be born alive. He was strong and a fighter and wanted to live, and that breaks our hearts.”

“He looked just like me when he was born,” said Michael, who had stood by Christina during the birth. “He had my big feet and chicken legs.”

“This was the toughest decision we ever had to make,” he continued. “I bring it up every day. A lot of people don’t know what this disease does to a family. It does massive damage to a family.”

A birth with a research goal

With medical assistance, a baby delivered at 22 weeks would have a 10 percent chance of survival, explained Christina, a pediatric nurse. Because this was an abortion, the medical team did not intervene to save Timothy. He died of heart and lung failure.

“I did not have a clinical abortion,” Christina said, noting that in a standard abortion the mother is put under anesthesia and the fetus terminated and removed in pieces with the help of forceps. Under those circumstances, the brain could not have been used for research.

“I went through the birth to be able to donate the brain,” Christina continued. “The doctors did insert pills into my cervix to induce my labor. I pushed him out. I delivered my son with the purpose of fighting this disease.

With great pain in her voice, Christina spoke of how she will miss her son.

“No one wants to hurt their child,” she said. “We loved him so much. We always will. Even if we have ten children, we’re always going to be missing one. He was our son and always will be. We have pictures of him. We have his ashes in an urn. He will live in our hearts forever.

“I feel like he’s fighting in a different place,” she added. “He’s my husband’s angel. My son can help save my husband. He’s a warrior. I couldn’t be more proud as a mom, to know that my son helped find a cure to beat this. Some moms want their children to be a doctor or a lawyer. Mine might help find the cure for a disease that destroys families.”

Painful memories of another test

When I read Christina’s Facebook posting about Timothy on August 29, I felt terrible. I decided immediately that I would soon write an article for this blog about their plight. This is the first of two articles about HD and abortion.

Never an easy decision, abortion is even tougher for people of faith like the Wrights and a pediatric nurse like Christina. The disabling, ultimately deadly nature of HD further complicates that decision.

Interviewing the Wrights was one of the most difficult moments in my 13-plus years as an HD activist.

Listening to them sent my mind reeling back to the winter of 1999-2000, when my wife and I tested our own baby for HD in the womb six months after I had tested positive for HD. As I told the Wrights, their experience closely resembled ours – except for the all-important fact that our daughter tested negative.

As I pictured Christina holding Timothy, I imagined what it would have been like if our daughter had died in her mother’s arms immediately after birth.

I can’t find the words to describe the pain I felt. I shared our family’s story with Christina and Michael. I told them that I supported their decision and thanked them for donating Timothy’s brain for such a worthy cause. “I appreciate that,” Christina said.

In recounting the interview to my wife, I explained how the Wrights had oscillated between continuing and terminating the pregnancy. I then recalled our own situation. “Nobody knows for sure until they’re actually faced with the decision,” my wife said. I agreed.

An HD-free child

I am immensely relieved that our “miracle baby” is HD-free.

On several evenings this past week she and I happened to watch a recording of The Heart of Christmas, a new feature film based on the story of Dax Locke, a toddler whose battle against a rare form of leukemia mobilized the community to support his family and celebrate Christmas early so that he could enjoy it one more time before he died in 2009. Thinking of the Wrights, I felt so privileged to share these moments with her.

Last Saturday morning, after we accompanied her to a testing center for a private school entrance exam, I reflected on her progress in life and her immense potential.

The most powerful drive in life – more than the sex drive or anything else – is the need to nurture and protect a child. No calamity wounds a family more than the death of a child.

An imperfect situation

The Wrights’ story reveals the tragedy of HD, the wrenching decisions it forces upon families, and the imperfect conditions under which they must make and carry out those decisions.

After meeting through Match.com and dating awhile, Christina and Michael married on St. Patrick’s Day of this year. Michael, a beverage merchandiser who had to quit college in part to help care for his mother, had revealed to Christina that he had tested positive for HD but so far had not symptoms. Christina witnessed the tough reality of HD by meeting Gail.

“A lot of people would run the other way,” Michael said. “She really loves me.”

Christina, now 38, had been told by doctors that she couldn’t get pregnant because of an irregular menstrual cycle since the age of 14 and, later, ten years of failed attempts to conceive in a prior relationship. She and Michael didn’t use contraceptives.

The pregnancy caught the Wrights completely by surprise. Thus they hadn’t had the opportunity to seek genetic counseling, nor could they resort to PGD (preimplantation genetic diagnosis), which would have allowed them to choose embryos without HD for implantation into her uterus.

Pondering the results

An amniocentesis was done on the baby at sixteen and a half weeks, the earliest possible moment. But the results of the HD test took three more weeks to arrive.

Michael’s abnormal gene has 42 CAG repeats, whereas a normal huntingtin gene has only ten to 29. Those extra repeats cause the disease. Timothy had 40 repeats. Statistically speaking, Michael, who is 34, will probably develop symptoms sometime in his forties or fifties. Someone with 40 repeats might develop them a bit later, although, according to Michael, Gail’s symptoms started around the age of 36 or 37, and she has only 36 repeats.

Although they are finding more clues, scientists still don’t know exactly how and when the disease starts. Anybody with 40 repeats or more will definitely develop symptoms at some point.

The Wrights had learned that the child of a gene-positive man has a much greater chance of developing juvenile Huntington’s disease, which can start as early as the toddler years. But that’s because the father can often pass on more repeats, whereas a mother usually passes on her number. In this case, Timothy actually had fewer repeats.

“I almost don’t want to know that, if that’s the case,” Christina told me after I explained my understanding of that connection between repeats and juvenile HD. “We very much wanted our baby. We feel that we gave him back to God, especially because we’re Catholic.”

‘We were bonding’

The process of learning about their child’s fate was awkward. The Wrights received the results of Timothy’s HD test from an on-call obstetrician, rather than from their regular doctor, who was out of town. No social workers or geneticists were on hand to help clarify the information, and it was the first time the obstetrician had ever advised a patient on an amniocentesis involving HD.

The Wrights faced additional time pressure because in Florida a fetus at 24 weeks is considered viable, Christina explained. Had Timothy reached that age, the couple would have had to travel to another state for an abortion.

“We were both crying and both devastated,” she said of the impact the news of Timothy’s gene-positive result. “It was very difficult for us. I didn’t think God would give us more than we could handle, and so I wanted to have our son.

“It wasn’t just a pregnancy at that point. It was our son. We saw his picture on the ultrasound. I was gaining weight. I could feel him move. We were bonding with him. We started picking names. It was just very hard.”

Medical advice

But the obstetrician told her that she “was being selfish and not considering the life of the child” if she went through with the pregnancy, she said.

Other doctors that the Wrights knew at the University of Florida in Gainesville – where Michael travels regularly to participate in an HD research study – couldn’t tell the couple when the symptoms would occur and how bad they might be.

“We wanted to consult with them,” Christina said, explaining that they spoke with these physicians via cell phone. “Their opinion meant more than an obstetrician’s. They agreed that it would be better not to have the child.”

She added that these doctors did not mention the relationship between the CAG repeats and the age of onset.

All of the doctors led the Wrights to conclude that they would have a “sick baby,” Christina said.

Timothy’s purpose

Sitting in a pew at their church, the Wrights prayed and cried for more than an hour. The parish priest appeared and asked what was wrong, and, without mentioning HD or a genetic test, the couple explained that they had gotten “bad news” at the doctor’s office and would have to deliver their child prematurely.

“He came into our room (at the hospital) and said a prayer and held our son and put some holy water on him and christened (baptized) him,” Christina said, adding that Timothy was probably dead at that point. “It was very touching for us.”

Timothy lived for about 90 minutes. The medical personnel needed to get his brain on dry ice in 30 or so minutes, and they shipped it to the University of British Columbia’s Huntington Disease BioBank. There scientists study tissue samples to understand “the way DNA changes associated with Huntington’s disease affect the actual physical characteristics and proteins of the brain and tissues.”

“That was one thing we were adamant about,” Christina said. “If we were going to lose our son, we wanted something to come from this.

“We’re not ashamed of what we did. We just want to help find a cure.”

The couple wants to share their story to raise awareness about Huntington’s and support the quest for a cure not just of HD, but other devastating neurological conditions such as Alzheimer’s and Parkinson’s, Michael added.

Timothy is now part of that quest.

“We felt that was his purpose,” Christina said.

Opinions on testing

The Wrights still want a child and are now saving to afford PGD, which can cost upwards of $10,000 and even twice that amount, depending on the circumstances. Their insurance doesn’t cover it.

They believe that PGD is “the responsible thing to do,” Christina said. She strongly disagrees with families that, when pregnant, choose not to test for HD via amniocentesis.

“With all that science has to offer, it’s (also) the responsible thing to do,” she said.

“Just think about the long-term effects if they don’t do the right thing,” Michael said. In using the latest scientific techniques, he and Christina aren’t seeking the “perfect baby, but a healthy baby,” he added. “You owe it to your family” to assure healthy genes, he said.

“God gives us these vessels, these instruments, this technology to guide us and help us along, especially in the medical field,” Michael said. “Don’t go through it blind-folded.”

More HD families need to “come out of the closet,” Michael continued. HD is “not something to be ashamed of. People look at Mom and think it’s a stroke. It hurts."

Learning from the Wrights’ example

In concluding the interview, I told Michael that he and I were “brothers” in the fight to stay healthy and support the cause for the cure. I told Christina that she was my “sister” in the cause.

I’ve been meditating on Timothy and his parents. I pray that others don’t have to face their terrible predicament, although many surely will until the medical community achieves greater awareness of the genetics of HD.

Ultimately, effective treatments or a cure would liberate people from this predicament.

We can learn much from Timothy John Wright. His parents gave us his brain for research – to serve the greater, common good. Understanding the bigger picture, Christina and Michael committed the ultimate act of human solidarity.

We in the HD community also need to see the greater good. Whenever possible, we need to participate in research. To do so, we must exit the terrible “HD closet.” I myself remained pseudonymous, in the closet until 2010, and in February of this year I came out by delivering the keynote speech to HD specialists from around the world gathered at a key conference in Palm Springs.

As Michael pointed out, we need to rise above the difficult feelings surrounding HD and gain heart from the fact that our participation in the quest for treatments and a cure is helping to create the dawn of a new era. Along with the scientists, we are taking a quantum leap in the study of the brain. We are the pioneers pointing the way to better brain health. We are doing something profoundly good and important.

From suffering to progress for all

In the past, many people – including my own family – have viewed HD as a matter of suffering. But today, with scientific progress, HD is about the human quest for a longer and more fulfilling life for all.

In the Bible, Abraham was willing to sacrifice his own son in a sign of complete commitment and love. Our collective human sorrow is captured In Michelangelo’s Pietà, with Mary holding the body of her son Jesus after his crucifixion.

Michelangelo's Pietà, in St. Peter's Basilica in Rome

The mini-urn containing Timothy's ashes (family photo)

We in the HD community are all Timothy John Wrights in our mothers’ arms.

Indeed, we in the HD community endure great suffering. “You think, ‘God can’t be that cruel,’” Michael said.

But, like the Wrights, none of us should feel ashamed. This community has lots of love – and it shows it just as the Wrights have done.

(The second part of this series will tell the story of Katelyn Sandbulte, a 20-year-old juvenile Huntington’s disease patient in the first trimester of pregnancy.... At this special time of year, please remember to donate to the Huntington’s Disease Society of America.)

The Holy Grail of Huntington's disease research: the gene-positive, drug trials, and treatments

2011-11-30T21:51:00.000-08:00

Living in the gray zone between my genetic test for Huntington’s disease and the inevitable but indefinite onset of this devastating brain disorder, I frequently feel forgotten in the excited discussion about impending clinical trials to test potential treatments.

HD researchers want to include people like me in trials, but haven’t yet found a way to do so.

I am a victim in waiting, but without any of the noticeable, classic symptoms that would qualify me for participation in a clinical trial.

Because so much of the effort against HD is geared to helping the affected and the caregivers, I sometimes sense that we, the asymptomatic (or pre-manifest) gene-positive, have been relegated to second priority.

Emotional impact

I recognize that I am, for the time being, relatively fortunate, but the situation of perceived neglect, although unintentional, impacts me emotionally.

I wonder if symptomatic people feel jealous towards me – just as I have occasionally reacted with a furious inner jealousy when I learn that someone has tested negative. In other instances, I have briefly felt smug when I’m around or am thinking about people with symptoms.

In yet other instances, I feel compassion – and even profound guilt. I tell myself, “You have no right to worry! You’re not even sick! Your life hasn’t even been affected by the disease!”

Mostly, I just feel lucky to function normally and to have the opportunity to enjoy daily life.

But then I remember, “Yes, I have been affected by this disease. It took Mom’s life at only age 68, and it has robbed me and my family of so many dreams.”

I literally dreamt about my status last night as my mind worked on this article: a team of HD medical specialists put me through a series of exams to see whether symptoms had begun, and, as I awaited the results, I used a large red marker to edit this text.

Not coincidentally, it’s time to set up my annual checkup at the Huntington’s Disease Society of America’s Center of Excellence for Family Services and Research at the University of California, San Diego.

So far, those checkups have not turned up any of HD’s classic, outwardly noticeable symptoms.

But I am hyper-conscious of the fact that HD affects the brain ten or more years before those symptoms start. If an effective treatment isn’t found in the next few years, I will be doomed to follow in my mother’s footsteps.

Unable to reach the finish line?

The feelings of vulnerability and abandonment are magnified when I remember that no current or impending HD clinical trial includes participation of those of us who are pre-manifest.

In short, everything is currently focused on stopping HD already in progress. Nobody has yet developed a workable strategy for preventing the onset of HD.

Along with the scientists I have interviewed over the years, I am confident that a significant treatment or series of treatments will become available in the next decade or so to ameliorate the symptoms. Of course, I also hope for a “cure,” but scientists don’t use that term. They talk of controlling or managing the disease, because, of course, the defective HD gene cannot be removed from the body.

But I’m deeply worried that scientists will still take many more years beyond that to discover treatments for people like me, treatments that can stave off onset and/or minimize symptoms.

Ever since I tested positive in 1999, I have been racing against my own interior genetic clock to avoid symptoms and support the HD movement.

But the probability that my symptoms will start in the next few years leaves me with the sensation of the marathon runner who glimpses the finish line but ultimately cannot reach it.

Participation in studies

For now, pre-manifest people can participate in research studies. Whereas clinical trials aim specifically to test the safety, tolerability, and efficacy of a drug, studies seek to provide further information about a disease and/or strategies for treating it.

Studies can also include a test of safety and tolerability of a substance, as exemplified in the PREQUEL study, an investigation of coenzyme Q-10 exclusively in a pre-manifest group of 90 individuals. PREQUEL also aims to “assess the usefulness of certain markers of HD in the blood, which may help measure the rate of the disease progression or effects of medication.” Its coordinators aim to use it as precursor to a clinical trial of coenzyme Q-10, an antioxidant produced in the brain and that has led to the improvement of symptoms in HD mouse models.

Major studies involving pre-manifest people include PREDICT-HD, COHORT, and the forthcoming Enroll-HD, a new, worldwide HD database expected to start gathering information in early 2012. (Click here to read my previous article on Enroll-HD). Enroll-HD is sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” a multi-million-dollar effort backed by a group of anonymous donors.

Through the above-mentioned Center of Excellence, I have participated in a number of studies, including COHORT, MRI studies, research involving HD and the sense of smell, and an experiment with instruments designed to measure loss in mobility. (Click here and here to read more.) I have also given blood and, for many years, participated in cognitive batteries and a Dementia Rating Scale study. I also took part as the only pre-manifest individual in the Huntington’s Disease Drug Works program’s "treatment now" observational trial of supplements, a rare opportunity for someone in my situation.

A ‘long time’ to gene-positive trials

The federal Food and Drug Administration (FDA) will not permit pre-manifest people to participate in clinical trials until beneficial results have first been demonstrated in symptomatic patients. The FDA also requires that researchers come up with useful ways to measure benefits in the pre-manifest.

I became acutely aware of the challenges of designing a drug for the pre-manifest during a July 2009 interview with Dr. Frank Bennett, the senior vice president for research at Isis Pharmaceuticals, Inc., in Carlsbad, CA. Along with CHDI, Isis is planning a clinical trial of a revolutionary drug that, if successful, would attack HD at its genetic roots and slow or perhaps even stop the progression of the disease in the brain.

Dr. Bennett told me that although the clinical trial will focus only on symptomatic patients, he was “optimistic” that a way could be found to help the pre-manifest, too.

Exhilarated by the promise of a potential “cure,” I wrote several enthusiastic articles about Isis.

But privately I also felt somewhat desperate, because, as Dr. Bennett explained, finding a solution for the pre-manifest would take a “long time.”

“Identifying when to start treating those patients is going to be a little tricky, as you might imagine, because you don’t want to do it too soon,” he said. By the same token, Dr. Bennett added, waiting too long would miss the opportunity to protect brain cells, which, once damaged, could not recover. “This is not a short-term fix but it’s something that’s going to take a large number of years to figure out how to optimally treat these patients.”

Other path-breaking clinical trials face similar hurdles. Alnylam Pharmaceuticals, which is close to starting its own clinical trial for a similar attack on the disease’s genetic causes, plans to inject its drug directly into the heads of patients, but they must first undergo an operation so that a very fine needle can be inserted into their brains (click here to read more). Medically, scientifically, and ethically speaking, only symptomatic patients can undergo the many risks of such a trial.

As Dr. Bennett and others have noted, the FDA will display great caution with these new kinds of drugs as well as the highly invasive delivery systems. Isis and Alnylam are striving to minimize levels of risk and invasiveness.

Seeking the Holy Grail

HD researchers face a major challenge in finding a treatment for the pre-manifest. It’s really the Holy Grail not only for HD, but also for other neurological diseases such as Alzheimer’s in which brain damage occurs many years before symptoms appear. Ideally, researchers want to design medications that will completely prevent these diseases.

In a recent e-mail to me, CHDI President Robi Blumenstein elaborated on this point with an analogy.

“The purpose of a cholesterol-lowering drug is to prevent heart disease, not lower cholesterol for its own sake,” he explained. “Cholesterol-lowering drugs were tested on people at risk for heart disease. By analogy, we would like to test HD drugs on gene-positive people (like you) at risk of developing symptoms of HD to see if the intervention prevents the appearance of symptoms (that is, slows or arrests the progression of the disease).”

So, as researchers ramp up to clinical trials, this challenge is gaining greater attention. At the World Congress on Huntington’s Disease in Melbourne, Australia, in early September, several scientists revealed their research into areas directly related to this challenge, including a study of brain changes in the pre-manifest, the development of measurements from MRI brain scans to predict and track symptoms, and a report on how functional MRI scans can detect brain activity changes before brain shrinkage occurs. (For details click here.)

In his remarks at the World Congress, Blumenstein pointed out that researchers need both gene-positive and affected individuals to participate in research studies now in order to prepare adequate measurement tools for clinical trials.

“It would be a shame if we have potential drugs to test but lack the tools to conduct the tests to see if they are having the desired effect,” Blumenstein wrote to me.

“What the FDA will accept for regulatory purposes (i.e., to approve a drug) and whether we can satisfy ourselves that we are on the right track scientifically to modify the disease are two different questions,” he added. “We will need people like you to participate in studies and, yes, trials to establish the latter. When we are successful with that the former may require some education and lobbying of the regulators to convince them that new approaches to approving drugs for genetic diseases are appropriate.”

Waiting in the wings

For the beleaguered Huntington’s disease community, clinical trials of potential treatments provide a ray of hope.

Looking back to my mother’s diagnosis in 1995, I recognize that researchers have made stunning progress. But big hurdles remain, especially in developing preventive treatments for the pre-manifest.

I share the researchers’ optimism, but I temper it with a sober assessment of the complexity of the challenges.

For me, time is ever more precious.

Once again, it’s crystal clear that researchers ultimately rely on the participation of HD-affected families. Everybody can play a part – the untested at risk and the pre-manifest in research studies, and the affected in clinical trials.

The affected will bravely pioneer treatments by initiating the trials.

For the time being, however, gene-positive individuals like me must wait in the wings.

But we can assist immensely by supporting the affected, advocating for the cause, and, perhaps most importantly, taking part in the appropriate studies and experiments.

Together we dream of the day when we can all declare: “I’m HD-free!”

Today, being gene-positive for Huntington’s disease threatens the well-being of me and my family. But if the science continues to accelerate, it will provide hope that carrying the HD gene will become little more than an inconvenience.

An HD Thanksgiving toast

2011-11-21T20:32:00.000-08:00

Thanksgiving is my favorite holiday.

Just when the year threatens to become frenetic, Thanksgiving intervenes with a hearty feast and family warmth.

When I was about twelve, I wrote a letter to my aunt Claralou praising her for the peaceful and welcoming atmosphere of her annual Thanksgiving celebration. She displayed my letter on her refrigerator door, and it appeared there again year after year as a remembrance of the true spirit of Thanksgiving.

My mother helped her and the other women with the turkey roasting in the oven for what seemed like forever, while my father, my uncle, and the other men drank beer, talked, and tended to us eight cousins stuffed into the house.

Nobody was a smoker, but on Thanksgiving my dad and my uncle would light up cigars and smell up the den where the football classics were playing on TV and I tried to learn how to use a nutcracker. One year they let us try a few puffs. I felt cool and manly.

Thanksgiving put the brakes on schoolwork, and, in college, when I spent the holiday on the East Coast, it saved me from completely exhausting myself.

I also like Thanksgiving because, of all the holidays, it has resisted commercialization the most. Aside from a trip to the supermarket for dinner items, the urge to buy is absent. (Black Friday is definitely not about Thanksgiving, but Christmas.)

Now in her 80s, Aunt Claralou still celebrates Thanksgiving in the same home, but, living in California with my own family, I haven’t had the chance to spend the holiday there.

My parents are gone – my mother the victim of Huntington’s disease in 2006 at the age of 68, my father, the “HD warrior,” dead at nearly 82 from a broken heart a little more than two years ago.

Ever since we learned of my mother’s diagnosis the day after Christmas in 1995, Thanksgiving has taken on a more profound meaning. For me, it really is a time to take stock of all the good in my life – even though I have lived in wait and dread of HD after testing positive in 1999.

Despite the enormous worries about our future, my family and I are thriving. My wife continues to work full-time as a teacher. Last weekend she ran her sixth half-marathon since taking up running in early 2010. Our “miracle baby,” who tested negative in the womb, is performing well in sixth grade and preparing to take the private-school entrance exam. And, as I look to my 52nd birthday in less than two months, an age at which HD had already stricken my mother, I have displayed none of the classic symptoms of HD.

Along with my wife and daughter, I have experienced the simplest yet profoundest joys of life (click here to read more). Last Saturday our daughter played her last soccer game of the season. As she played one of her best games, I doubled on the sidelines as the assistant coach and team videographer, and my wife cheered them on and made sure the half-time snacks were ready. Later in the afternoon we attended the year-end party, where I was moved by the girls’ unity and laughter and the realization that we parents were a team just as united in our devotion to our daughters.

I feel a special debt of gratitude to the many people engaged in the fight against HD: the members and administrators of the four organizations combating the disease; the HD people and their families fighting the good fight each day; the physicians and caregivers; and the scientists and pharmaceutical companies on a quest for treatments and a cure.

I am continually moved by the circle of close friends who pray for and support for me in numerous ways – especially Norman Oder, the editor of this blog and my “HD alter ego.”

I also want to thank you, my readers, for sharing with me the harrowing odyssey of living gene-positive for a condition described as “the devil of all diseases.” In posted comments, on Facebook, through e-mail, and even in phone calls, you have expressed your unflagging support for me personally and confidence in our collective fight to defeat HD.

Knowing that you are listening, challenging, and cheering me on provides me with an immense emotional strength, and hearing about your valiant efforts against HD inspires me.

As I share both a ham and turkey with our guests on Thursday, I’ll raise a toast of thanks to you.

Finding America’s passion: the NFL and Huntington’s disease

2011-11-14T08:33:00.000-08:00

In a poignant night of football talk and appeals to combat Huntington’s disease, San Diego’s eleventh annual Celebration of Hope Gala put the National Football League (NFL) front and center in the campaign to protect the health of our most important organ: the brain.

NFL Commissioner Roger Goodell headlined the event, titled “NFL: America’s Passion.” Held by the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego) on November 9, 2011, the gala attracted a record audience of some 600 people at the Manchester Grand Hyatt hotel, including sports celebrities and representatives of major donors such as Qualcomm.

Goodell, interviewed on stage by ESPN football analyst Chris Berman, addressed such controversial topics as recently “testy” player-owner relations and the San Diego Chargers’ quest for a new stadium. Perhaps most of all, Goodell recognized how the NFL must take the lead in making football a safer game for players and, I’d add, especially their brains.

Chris Berman (left) and NFL Commissioner Roger Goodell (photo by Mike Nowak)

“Part of our labor agreement was player health and safety and how we make the game safer,” Goodell explained about the recently signed accord between the owners and the players’ union. “I firmly believe the game is safer and more popular than ever, but I think we can do better…. That’s priority one.”

Goodell cited reducing physical contact during training camp, avoiding the creation of a longer season until the game becomes safer, and prohibiting techniques that lead to frequent injuries.

Goodell’s comments come as concern about brain injuries heightens in the wake of growing evidence about the dangers of concussions not only for the hard-hitting professional players, but the millions of youths who play at all levels.

You can watch the Berman-Goodell interview in the video below.

The football-HD research connection

Although nobody explicitly made a connection between research on brain injuries and HD, both fall into an area of inquiry in which understanding and treating one condition can bring benefits to sufferers of other conditions.

HD research sheds light on Alzheimer’s, Parkinson’s, Lou Gehrig’s, and a host of other brain conditions. Stroke and spinal cord injuries enter the mix, too.

So it’s conceivable that HD research – which has led scientists to plumb the mysteries of the brain – could suggest strategies for preventing and treating brain injuries such as those sustained by athletes.

Even without an explicit mention of an HD-concussion link, the gala drove home the point by bringing together Goodell, HDSA-San Diego, Chargers President Dean Spanos, and other leaders of the football world.

Berman’s lessons from the Johnstons

Prior to his conversation with Goodell, Berman, the gala emcee, underscored the tragedy of HD by recalling his long friendship and professional collaboration with Bill Johnston, the Chargers’ PR director and the husband of Ramona Johnston, who is in the late stages of HD.

“Being a PR director in the NFL is very hard work, but I thought that he was like me,” recounted Berman. “He had a very attractive wife and two very nice children. But I realized that, while that was all true, when Ramona came down with Huntington’s disease, I learned that he and the Johnstons were quite not like me. What I knew was only ten percent, maybe, of what he, Mona, and the children go through each day.”

To hear more of Berman’s remarks, watch the video below.

(You can read more about the Johnstons by clicking here.)

Introducing Ramona

Johnston was the prime mover behind the gala. Ramona was diagnosed with HD in 1999. Unable to care for herself, she has resided the past several years at Edgemoor Hospital, a public facility for people with HD and other debilitating conditions.

“It’s just a horrible, horrible disease,” Johnston explained. “Some have called it the devil of all diseases, because of the symptoms and how it affects people and families. It’s a brain disease that causes brain cells to die.

“And your brain controls obviously everything that you are, mentally, physically. Your brain is who you are, in so many ways. This disease robs you of who you are.”

The Johnstons’ son Jared and another young man then helped Ramona from her wheelchair and onto the stage. They held her in a standing position as Johnston continued his powerful and wrenching testimony.

“If Mona could talk right now, she would just say thank you – thank you for being here – and tell the world about this disease,” Johnston told the audience, his voice filled with emotion. “Tell anyone you can tell. Because you are here to make a difference, and you are making a difference.”

You can watch Johnston and Ramona in the video below.

The Johnstons and HDSA-San Diego

In 1999, I myself tested positive for HD. I vividly remember speaking with Ramona at a benefit walk-run co-sponsored by the Chargers. We commiserated with each other about our gene-positive status.

Ramona was still very lucid, though her symptoms had already started. As I watched her decline over the years as my mother also succumbed to the disease (she died in 2006), I knew that I would follow in their footsteps. Ramona is now 52 – just one year older than I.

Along with Johnston, HDSA-San Diego board members, and numerous volunteers, I have worked assiduously to raise the profile of HD. I attended dozens of board meetings at which Johnston was present. I’ve visited Edgemoor a number of times, several of them with Bill, to gather information and take photos for the HDSA-San Diego website and publications. He and I have exchanged literally thousands of e-mails about all aspects of the HD cause.

In October 2007, I arranged for Bill and Ramona to appear before the oversight committee for California’s multi-billion-dollar state stem-cell initiative to make a plea for HD research funding.

In all, I estimate that in the past decade the San Diego chapter has raised more than $2 million for HDSA.

Sharing the pain

At the gala, I commiserated with another emerging leader of the HD movement, Katie Moser. Katie supports the cause through her position as manager of advocacy and patient support with Lundbeck, the pharmaceutical company that markets Xenazine (tetrabenazine), the first federally approved drug for chorea, the dance-like movements and tremors typical in HD.

“Lundbeck has established a strong relationship with the HD community in the U.S. over the past two and a half years,” Moser told the audience. “I am fortunate to be a part of Lundbeck, because, as some of you might know, I grew up in a family affected by Huntington’s disease, and in 2005 I had the genetic test that shows that I have the genetic mutation that will cause the disease.”

As a sign of hope for the HD community, Moser reported on Lundbeck’s renewed commitment to finding treatments.

Gene Veritas and Katie Moser

I also greeted the Johnstons’ 23-year-old daughter Hayley, a co-chair of the gala and an energetic and highly focused board member who is at risk for HD but has yet to test for the condition. Several years ago her older brother Jared, now 26, tested negative.

Earlier I helped man an HDSA information table, where other volunteers and I solicited people’s e-mail addresses for our chapter database and asked them to sign a petition urging passage of the Huntington’s Disease Parity Act of 2011, a bill in Congress that would make it easier for HD patients to obtain their rightful federal benefits. Terry Leach, a 14-year-old stricken with juvenile Huntington’s disease and confined to a wheelchair, handed out blue HDSA “Care2Cure” wristbands.

At dinner I sat at a table with Hayley’s work colleagues from Qualcomm and also Lindsey Zan, an untested, at-risk woman and one of five people featured in a moving video screened at the gala.

Support from the Chargers

Throughout the Johnston family’s personal ordeal and the San Diego chapter’s collective efforts to raise funds and awareness, the Chargers organization has lent its support in numerous ways, including sponsorships and other donations totaling hundreds of thousands of dollars.

In addition to this year’s gala, Chargers President Dean Spanos and his wife Susie have attended and supported a number of past galas, and Dean’s father and team owner Alex Spanos has also donated to the effort. Dean and Susie’s two sons have also participated in a number of HDSA-San Diego events.

The family is well aware of the fragility of our brains. In 2008, Alex, at 85 and afflicted by severe dementia, wrote a holiday letter to his family lamenting his loss of memory and expressing his love for them. Susie’s father had Alzheimer’s.

In 2003, Dean and Susie Spanos were honored at HDSA’s annual Guthrie Awards Dinner in New York. At the 2008 dinner, Johnston was awarded HDSA’s Marjorie Guthrie Leadership Award. On hand were HDSA-San Diego board members, former New York Governor George Pataki and his wife Libby, the Spanoses, and Goodell.

A cerebral matter for everybody

The San Diego gala hit the mark in describing the NFL as “America’s passion.”

As I have written before, “the Sunday ritual of watching football has taken over as the national religion, a religion where people profess a belief in sports as the path to success in life.” Rooting for our favorite team also permits us to unleash our instinctual tribalism and the primordial exercise of violence.

From left to right, NFL Network analysts Marshall Faulk, Deion Sanders, Michael Irvin, Steve Mariucci, and Rich Eisen close out the gala with football banter and joking with the audience (photo by Mike Nowak).

But the gala transformed that passion from something primeval into a cerebral affair: first, in an intellectual sense, by discussing it a high level, and, secondly, in a literal sense, by recognizing the primacy of the brain.

Playing excellent football requires the utmost stretching of the brain’s powers as the athlete strives for perfect physical coordination and intelligent tactics and strategies.

Promoting brain health requires that we protect, nourish, and exercise our brains. This includes wearing a helmet during football, but it also means redesigning the game, gear, and rules.

Ultimately, I hope, the cerebral passion of the NFL will make brain research a national priority at a time when HD, Alzheimer’s, and other brain disorders are beginning to strain our resources with a massive caregiving burden. Goodell, the NFL teams, and the league hold great sway in our society and have the power to mobilize people in a grand cause.

As an HD-positive person praying each day not to become like my mother, Ramona, and thousands of other Americans who have fallen victim to HD, I fervently hope that the NFL will take the lead of the Chargers, joining the campaign to end HD and protect the brain.

Huntington’s disease in the news and entertainment media – Part II: A suicide on TV

2011-11-07T18:27:00.000-08:00

I’m not going to die a slow death from Huntington’s. I’m not going the way my mother did…. It’s time, Amelia. I mean, I’ve had great food, great sex, great love in my life, and a great friend. I’m happy, and I’m ready. I need you to help me die.

With those words, 30-year-old Michelle, whose HD symptoms had recently started, asks her doctor to assist her in committing suicide.

Michelle and Amelia are fictional characters in the ABC television network’s evening drama Private Practice, but the scenes in which they act (broadcast on October 27, 2011) represent the stark psychological reality of HD patients, untested at-risk individuals, and gene-positive people like me.

According to a 2005 landmark study of HD and the risk of suicide conducted by the international Huntington’s Study Group (HSG), HD patients commit suicide an estimated seven to 200 times more often than the general population, although the data are complex because of the diverse scientific methodologies employed in the research. “Indeed, our current ability to predict actual suicide is poor,” the study states (click here to read more).

A 2010 article by Dutch medical school professor Raymund Roos reported that after pneumonia, the leading cause of death in HD patients is suicide.

Other studies have demonstrated that suicide risk increases around the time of genetic testing for HD (click here to see one example).

In the Private Practice episode, Michelle goes through with her plan, only to change her mind when an injection applied by Amelia leaves her unable to breathe. After her revival in a hospital emergency room, Michelle makes another attempt, this time alone. Amelia discovers her dead body on top of a bed with an open bottle of pills at her side.

Disturbing thoughts

This was an even more painful depiction of HD in the popular media than, as I described in Part I of this two-part series, the Dear Prudence column recounting the story of a young mom who learned just days after the birth of her son that her mother-in-law had HD. That news signified that the father and the baby were also at risk for HD, putting the dad and possibly the son in the difficult situation of requiring a genetic test. In the article I recalled my own anxiety-ridden process of decision-making, which led to my positive test for HD in June 1999 and, six months later, my daughter’s negative test in the womb.

Thinking about the Private Practice episode stirs up disturbing recollections of my suicidal thoughts in the years before and after my genetic test, although not at the moment of the test itself.

My mother had been diagnosed with HD in 1995. Distressed, I watched her revert to a childlike state. I remember vividly how, during one of her visits at our San Diego condo, she ate with her hands. She was also rapidly losing the ability to speak.

“I don’t want to be a gimp,” I remember angrily telling myself, fearing that I might have the HD gene and would become severely disabled.

A farewell ceremony

As a Catholic, I had grown up with the belief that suicide was a sin. As an adult, I still considered it wrong as well as a terrible waste of a human life, no matter what the condition of the person. Life was a gift from God, and only God could take it away.

But HD so relentlessly destroyed my mother’s humanity that I began to think differently about suicide.

On several occasions I declared to my wife that I would rather end my life than face HD symptoms.

I especially feared losing my ability to pursue my greatest passions, reading and writing.

I created a film in my mind in which I invited my closest friends and my wife to a farewell ceremony after which I would, like Socrates, drink a cup of poison.

With a mixture of fear and bravado, I even told my wife about this plan.

Whenever we spoke about HD, she would offer words of hope. However, she kept silent on the topic of suicide. I could tell by the look in her eyes that these declarations scared her.

A devastating option

On the day I received my HD test results in 1999, my wife and I entered a state of emotional shock. As I pulled my new Corolla out of the clinic parking garage, I became distracted and scraped the right fender against a column.

But I did not think of suicide.

I was angry – but also filled with a resolve to fight back. Testing positive for HD changed my life forever. It cast upon me a pall of fear and anxiety, but it also energized me to live life to the fullest.

In the next few years, thoughts of suicide lingered for a while but eventually left my conscious self.

The birth of our HD-negative “miracle baby” in June 2000 – just a few weeks after the first anniversary of my positive test – transformed my thinking about HD and suicide.

First of all, I was so overjoyed at her arrival, and then so busy helping care for her, that I had much less time for dwelling on HD.

Secondly, my fatherly instinct kicked in. With a family to love and support, and who unconditionally lent me their love and support, I began to see the absurdity of committing suicide – at least while I was still free of symptoms.

As I wrote a few years later, “Suicide would spare my family an exhausting, financially ruinous burden. I would not suffer like the HD patients I recently saw at a nursing home, writhing uncontrollably, wearing diapers, belted in a special chair or confined to a padded room. But a suicide would devastate my daughter.”

Dredging up difficult feelings

So I buried thoughts of killing myself. I also channeled much of my anxiety into an increasing level of advocacy work for the Huntington’s Disease Society of America.

After my mother died in February 2006, I became paralyzed by the fear of onset. For nearly nine months, I did not write in this blog.

Yet I had no fantasies of suicide during that long and dark night, although I most certainly thought about death every day.

Since then, I have gained psychological stability and worked hard to avoid symptoms. Surely luck plays a part in the fact that I am approaching my mother’s age of clear onset without any classical signs of HD.

But watching and then reflecting on the Private Practice episode dredged up the difficult recollections I am sharing with you here.

Analyzing Private Practice

I tracked a debate among some members of the HD Facebook community about the pros and cons of the episode, especially regarding whether it accurately portrays the reality of HD people. A number criticized the program for focusing on suicide, while others welcomed the exposure HD received.

Private Practice is actually just the latest in a line of TV productions about HD stretching back to the 1960s. For a detailed explanation of that history, you can click here to watch a video of the keynote speaker at the 2009 HD research conference sponsored by the CHDI Foundation, Inc., the so-called “cure HD initiative,” backed by wealthy, anonymous donors.

The Private Practice episode uses HD as a vehicle to demonstrate the dilemma experienced by physician Amelia in her decision to assist Michelle with suicide.

To the extent that it portrays HD and suicide, I believe the episode is fairly accurate. I very much identified with Michelle’s fears of turning out like her mother. Like her, I frequently thought of planning a suicide for a moment in my life when I could still properly say good-bye.

Suicide as preoccupation

Cleary, as the HSG and Roos articles point out, thoughts of suicide preoccupy many HD people in the at-risk, gene-positive, and affected categories.

Based on a study of “suicidal ideation” in 4,171 individuals in the HSG database, the HSG study determined several critical periods for suicide in HD: the time leading up to diagnosis, onset and the start of early “soft” symptoms (when people can still actually plan a suicide), and the period in which patients lose the ability to perform such tasks as driving and become dependent on others for daily living.

In contrast with popular belief, the HSG report emphasizes that getting diagnosed actually reduces suicidal thoughts: “Receiving a diagnosis of a devastating fatal disease does not exacerbate, and may even alleviate, the risk of suicide.”

Dramatizing HD

We need to keep in mind that Private Practice is entertainment – not a documentary.

Clearly the creators of the program compressed Michelle’s experience into an extremely short period of time in order to dramatize the symptoms of HD.

All humans have a huntingtin gene with a series of components known as CAG repeats. Healthy people have ten to 29 repeats. Forty or more repeats signify that a person will develop HD. In general, the higher the repeats, the younger the onset.

My mother had 40 repeats, and so do I. Evidence demonstrates that this level of defect will lead a person to develop the disease roughly between his or her late forties and mid-fifties.

Michelle has 43 repeats and already has strong symptoms at age 30 – possible but unlikely.

She occasionally displays dance-like movements in her arms, a sign of the classic symptom of HD known as chorea. Amelia describes her as having “tremors, rigidity, seizures.”

Symptoms, but no hope

In debating assisted suicide with fellow physicians, Amelia points out that Michelle’s prognosis is not good. “What if you were seizing and drooling and losing control of your muscles, of your bowels, of your mind?” she says. “Would you want to stick around for that?”

Another doctor counters that Michelle is still “lucid” and “functional” and can get assistance from a support group and other HD services.

These symptoms appear to be accurate, at least in the long haul of an HD person’s existence.

However, as I observed about the Dear Prudence column, the Private Practice episode also fails to note the immense gains in research that would certainly give someone like Michelle reason to hope for a treatment or even a cure in her lifetime.

Ending a life

On the day of the incident, Michelle lies on a couch as Amelia prepares to administer the medications that will halt her life. Amelia explains that after Michelle dies, she will call the police. She warns Michelle she might end up in an irreversible coma.

“I don’t want to get you in trouble,” Michelle says with worry in her voice.

“I don’t want you to suffer,” Amelia responds sorrowfully but with determination to help her friend.

After the aborted first attempt with Amelia’s help, Michelle expresses doubt about her decision to die. She displays an apparently renewed desire to live, and even a bit of humor in a conversation with Amelia.

However, apparently still despondent about her situation, she ends her life.

Testing and planning for the future

The program and especially the research articles about HD can serve as an important starting point for the HD community to discuss openly one of the most difficult of issues: suicide. As the program illustrates, for an HD person and his or her physician, assisted suicide involves questions of health but also of moral values.

As I pointed out in the article on Dear Prudence, gene-positive individuals can contribute immensely to the quest for treatments and a cure.

After testing, I became “Gene Veritas,” the truth in my genes. If you are an at-risk individual, you can discover your own truth – and plan for it accordingly.

I believe that in my personal case, I would have had more suicidal thoughts had I not been tested.

Obviously, a decision to test is a highly personal one. But, with the increased understanding of HD resulting from research, it’s time for our community to see it in a new light.

Feeling mortal

At the same time, I admit that I deeply fear the moment of onset. I realize – from reading the HSG study but also in consulting my heart – that the fear of becoming a “gimp” could potentially lead me to act like Michelle.

We all deny death on a daily basis. Without that denial, we couldn’t function as individuals and as a civilization.

After my mother’s diagnosis, I was forced to confront the idea of a horrible, early death. I have learned to become especially skillful in my use of denial.

But how will I perceive my life when the inevitable onset begins? I dread that moment.

Watching Private Practice and writing about it have once again left me feeling painfully insecure – and mortal.

Huntington’s disease in the news and entertainment media – Part I: Stigma and genetic testing

2011-10-31T10:29:00.000-07:00

Despite its status as an orphan disease unknown to many, Huntington’s disease occasionally comes into focus in the mainstream news media and the entertainment industry.

HD’s biggest exposure came March 18, 2007, when the Sunday edition of The New York Times featured a long page-one story on 23-year-old Katie Moser, who had tested positive for this devastating, deadly brain disorder and was confronting her fate.

On September 15, 2011, HD entered the discussion again in a Dear Prudence column titled “Deadly Family Secret.” Emily Yoffe, the author of the advice column for the online newsmagazine Slate, responded to a young mother who had just learned that her newborn baby boy was at risk for HD. (Click here to read more.)

The writer, who signed her letter to Prudence “So Devastated,” recounted how, a week after the birth, she learned that her mother-in-law had HD. Thus the young mother’s untested husband has a 50-50 chance of inheriting the disease, and, if he indeed has the abnormal gene, the baby would face the same risk.

That letter once again highlighted how stigma, denial, and ignorance plague the HD community (click here to read more).

Some sound advice

Yoffe provided some excellent commentary and advice, though, as noted below, I found other aspects quite frustrating.

As an HD-positive person, support group member, and 2011 Person of the Year of the Huntington’s Disease Society of America (HDSA), I completely agree with Yoffe that the mother-in-law should have informed her son about his at-risk status, especially given the fact that her own mother had died of HD.

The young mother and her husband are now racing to educate themselves about the disease and its consequences – an anxiety-ridden situation they could have avoided, or at least planned for, had his mother revealed the family history of HD in a timely manner. They could have arranged for PGD, or preimplantation genetic diagnosis, to assure that their baby would be born without HD.

From my own extended family’s experience with HD and my observation of many others in my 13 years as an HD advocate, I believe that full disclosure is always the best policy.

Yoffe recommended that the couple tap into the resources provided by HDSA and its network of support groups and Centers of Excellence for Family Services and Research. She also advised that they consult a genetic counselor to discuss genetic testing for the husband, adding that the wife should inform an at-risk, pregnant cousin about her aunt’s diagnosis. With that knowledge, the cousin can test the fetus for HD.

A deliberate decision

Also, I was deeply relieved to read Yoffe’s advice to the young father that “there is no rush about making that choice” about his own genetic testing.

My own experience with testing supports this approach.

After learning of my mother’s diagnosis the day after Christmas 1995, I wanted to get tested immediately. But after speaking with my mother’s geneticist and becoming involved in the HDSA-San Diego support group, I learned that I should not rush into testing. Testing presented enormous risks involving job security, insurability, and my psychological health. Ultimately, I waited until 1999, when my wife became pregnant, to learn my fate. In 2000 our daughter tested negative for HD in the womb.

The omission of research

However, I disagree with other aspects of Yoffe’s response.

She omitted, or perhaps didn’t know, that a man often passes on a worse form of HD, sometimes causing a gene-positive child to develop juvenile Huntington’s disease. Thus the mother’s failure to inform “So Devastated” and her husband presents potentially even more devastating implications for their new family.

While Yoffe properly described HD as a “particularly cruel” condition, she failed to mention the huge strides made in research to combat the disease. That research provides immense hope for people such as “So Devastated” and her extended family (click here to read more).

A skewed view of testing

As a result of this omission, Yoffe presented a skewed view of genetic testing.

In referencing HDSA guidelines, she wrote that “there is almost never a reason to test a young person for the disease, which tends to strike in middle age.”

Despite the highly appropriate caution about not rushing into testing, genetic testing does play an increasingly important part in the solution to Huntington’s disease. Simply put, scientists, physicians, and drug companies need at-risk, gene-positive, and affected HD people to participate in research studies and clinical trials in order to understand the disease more fully and to test the safety and efficacy of potential drugs. (Click here to read more.)

Testing for HD directly benefits the effort to find treatments to make HD manageable like diabetes or perhaps even to bring about a cure.

By getting tested, at-risk people provide hope – for themselves and for the tens of thousands of people around the world affected by HD.

Treatments ‘on the horizon’

Although many people in the HD community, as well as journalists, still have not perceived this message, it has now existed in the public domain for a number of years.

A prominent example came in September 2005, when Dr. Martha Nance, the director of the HDSA Center of Excellence at the Hennepin County Medical Center in Minneapolis, responded to my own deep fears about HD by demonstrating in a Washington Post article that “treatments for neurodegeneration [brain diseases] are on the horizon.”

Similarly, as I have illustrated with my own experience, at-risk and gene-positive HD people have given testimony regarding the importance of research studies and clinical trials.

Testing no longer just a personal matter

Yoffe’s Dear Prudence column on HD effectively personalized how a “deadly family secret” can devastate successive generations. It reminds us of the urgent need to end the stigma associated with HD (and, by extension, with other neurological diseases).

Rightly so, Yoffe points out the great importance of sharing the truth about a genetic test with other family members and taking advantage of the information and services provided by HDSA.

However, I believe that HD and genetic testing are no longer just personal matters to be interpreted and confronted alone. They involve and impact the entire HD community – including the mutually beneficial, inextricable ties between the researchers and the patients (and potential patients like me and that letter-writer’s husband and son).

To defeat HD, we can never forget the big picture of our quest.

(In Part II, I will reflect on a recent episode about HD and suicide on the TV show Private Practice.)

Huntington’s disease and the financial jitters

2011-10-21T10:30:00.000-07:00

As I’ve written before, living with the deadly gene for Huntington’s disease is like a high-wire act. Fearful that HD’s terrible symptoms could start any time, I walk the tightrope while juggling job, family, HD advocacy and, along with my wife, our finances.

As I have described in a number of articles since beginning this blog in January 2005, HD is a killer of dreams. Although the threat of HD has caused me to grow in many ways and to enjoy life more fully, it has also led us to abandon many plans, including having a second child after we went through the trauma of testing our first baby in the womb. (She tested negative and today is a healthy eleven-year-old.)

If it weren’t for the specter of HD, which took my mother’s life in 2006, I could have advanced much further in my career. My wife and I could focus on saving for retirement rather than building up an “HD war chest” to compensate for the deep losses in income expected after the onset of symptoms forces me to stop working in the near future.

I’m almost 52, the age at which my mom already had symptoms.

Turning the crisis to our favor

The fear of HD has caused us to fret about our finances. We agonize over big purchases, and even bigger decisions such as refinancing our home turn into weeks- and even months-long discussions.

Our fears increased greatly in the recession that began in late 2007 and got much worse in 2008.

Like many Americans, we were reeling from the stock market crash, which eroded our savings. We were stunned at both the enormity of the crisis and the massive stimulus program, financed with borrowing from foreign sources.

But, hopeful about a recovery, we sought to turn the short-term crisis to our long-term advantage.

In 2009, during the early months of the administration of President Barack Obama, we took advantage of extremely low interest rates to refinance the mortgage, taking out extra money to build a swimming pool and carry out other home improvements. (I jokingly referred to the project as the “Obama stimulus pool.”) The risk was well worth it: the huge savings from the lower interest rate made the pool affordable, and I took up swimming again to bolster my brain against HD onset.

Economic pain

In a state with a real unemployment rate of more than 20 percent, we were thankful to have jobs.

However, we started to feel the economic pain not long after we took our first swim in the pool. For the first time in nearly two decades as a university professor, I received no raise during the 2009-2010 academic year. The next year my wife, a teacher in the San Diego school district, took a 3.7 percent pay cut that remains in effect. Like many others facing pay freezes and cuts, we’re also paying more for benefits.

To compensate for the lost pay, the school district cut five days off the school year and cut hundreds of millions of dollars from its budget. Now, with California sinking ever deeper into crisis and forcing additional school cuts of tens of millions of dollars, the San Diego district leadership may cancel even more classes. Last week, the superintendent declared that the district might need to declare itself insolvent. Teachers will likely face further salary cuts.

As we feared yet another drop in family income, my wife and I also worried about the quality of education our daughter is receiving in the public schools. We quickly became frustrated with the middle school that she entered in September. Class sizes are large (36 per class), and the school does not offer placement tests to ensure that all students have access to the proper level of instruction. It offers only a few honors sections.

Frustrated and convinced that the school crisis will last for many years, my wife and I decided that our daughter will apply to private schools.

Extending beyond our reach?

Annual tuition and other expenses at these schools could cost as much as $30,000. To afford it, we would need to forfeit all saving for retirement – the biggest portion of our HD war chest. Because we put pre-tax dollars into retirement, every dollar we stopped saving would be taxed at about a third. That would make the real cost of the most expensive private school closer to $40,000.

That was getting well beyond our reach, especially when we also need to save for our daughter’s college expenses.

Once again, we decided to refinance our mortgage in order to borrow enough money to pay for about half the cost of six years of private school (grades 7 through 12).

Because we refinanced for the pool, this time we must max out on the mortgage: we will be borrowing about 75 percent of the value of the home. We bought the house in 1999 and saw its value more than double during the real estate boom of the early to mid-2000s. Even in today’s depressed market, it’s still worth about two thirds more than the original price, thus allowing us to take out substantial cash upon refinancing.

In addition, interest rates have dropped to near historic lows. We’ll have a rate below 4 percent – a bargain when compared to forfeiting saving for retirement and the HD war chest.

Risk exposure

Nevertheless, unlike the pool project, this round of refinancing has left me with the jitters. Taking out such a big loan, with a mortgage payment of hundreds of dollars more per month, conjures up memories of how little disposable income we had after our first property purchase in 1994. That was before we learned that my mom had HD.

The future of our economy seems even more uncertain than it did in 2009.

And I worry about exposing the family to too much financial risk precisely as I progress towards the probable onset of HD.

In fact, as I write this article, it seems like sheer lunacy!

How will we pay for private school and a bigger mortgage, save for our daughter’s college and our retirement, build the HD war chest, and run the household if I must go on state long-term disability, which would pay, at most, only 65 percent of my salary (this income, at least, would be tax-free) and run out after age 65? I might be able to supplement disability with Social Security and Medicare benefits, but, as I wrote earlier this year, HD people struggle to obtain, and are sometimes even denied, those benefits.

Helping while I can

It’s a huge gamble – but one that we feel we must take.

It only makes sense when I remember that we are providing for one of the best investments in our daughter’s future: an excellent education.

Born HD-negative, she was our “miracle baby.”

But she is no longer that baby. She stands on the verge of adolescence – and is now only five years away from filling out her college applications.

She is HD-free, but could still feel the disease's impact because of the stark possibility that I could become disabled and therefore less able to support her during her high school and college years

I desperately await news of the key research breakthrough that will save me from the dementia and other devastating symptoms of HD. I want to see my daughter graduate from college and build a life of her own.

If HD prevents me from enjoying those moments, I will at least have done my part to help her get there while I could still help.

BDNF and ‘Neurobics’: building a ‘beautiful mind’ against Huntington’s

2011-10-10T22:09:00.000-07:00

To avoid the onset of Huntington’s disease, whose killer gene I inherited from my mother, I must do all I can to protect my brain.

In 2001, two years after testing positive for HD, I was inspired by the film A Beautiful Mind to try to think my way to cerebral health. In that film, starring Russell Crowe and Ed Harris (two of my favorite actors), the true-life figure of Nobel Prize-winning mathematician John Nash used his intelligence to distinguish the hallucinations of his schizophrenia from reality and to regain a normal life.

In effect, Nash tricked his symptoms.

I didn’t believe that I could trick HD. Like schizophrenia, HD is a brain disorder, but with far more devastating symptoms – and without a treatment for its root causes. Schizophrenia can be controlled with medication. HD cannot. And, whereas the causes of schizophrenia are thought to be a combination of genetic and environmental factors, HD is completely genetic, with 100 percent of gene-positive individuals eventually becoming symptomatic.

Tricking a gene like that seemed impossible.

Working the brain to exhaustion

But I did believe that keeping an active mind, thinking positively, and working for a cure for HD might allow me to delay onset.

My job as a college professor already provided wonderful stimulation for my brain. I read, wrote, traveled, and lectured regularly. Contact with the young, vibrant students kept me feeling young myself.

As a member of the board of directors of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego), I took on the hugely stimulating, and time-consuming, task of writing, editing, and producing the organization’s tri-annual newsletter. Using skills gained in my former work as a journalist and my current career as a historian, I delved into the harsh reality of HD as well as the growing body of scientific research towards treatments and a cure.

I ran the newsletter until 2007. During that time, I watched my mother rapidly decline and ultimately die of HD in early 2006, and I rode the emotional roller-coaster of wondering and waiting about the onset of my own symptoms.

I had purposely over-stimulated my brain – many times to the point of exhaustion.

A self-fertilizing garden

In the mid-2000s, I began reading about a new discovery about HD and the brain that provided me with another tool to build my “beautiful mind” against onset: I could increase the amount of a crucial substance for brain health known as BDNF (brain derived neurotrophic factor) by exercising.

A nutrient, BDNF acts like fertilizer for the brain. It is produced in the cortex, the convoluted, outer hemispheres of the brain, and transported into the striatum, the inner, lower level of the brain. Thus, in the words of researchers, our brains function like “a self-fertilizing garden.”

The striatum happens to be the area of the brain most affected in Huntington’s disease. Starting in the early 2000s, scientists working with HD mouse models observed that BDNF levels fell dramatically in the striatum. The lower the amount of BDNF in the mouse brains, the earlier and more severe was their HD onset.

“The promising new findings about BDNF can be exploited even today,” wrote Dr. Marsha Miller on the Huntington’s Disease Lighthouse Family website in 2006 (click here to read more). “There are easy, cheap, reasonably safe ways for people to increase BDNF levels in the brain. Exercise, maintaining a reasonably low weight, and enjoying a stimulating, but not overly stressful, social and mental life all raise BDNF levels. Other BDNF enhancers include the antidepressants known as selective serotonin-reuptake inhibitors (SSRIs), such as sertraline, and a few other drugs.”

This was excellent news for all gene-positive and symptomatic HD people. We could actually increase BDNF in our brains and therefore perhaps delay the onset of the disease or slow down the progression of symptoms!

A hot topic

BDNF was a hot topic at the 2011 Sixth Annual HD Therapeutics Conference from February 7-10, 2011, in Palm Springs, California. In addition to keynoting this meeting, I reported on the scientific presentations. The event was sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” a multi-million-dollar program backed by anonymous donors.

In his presentation on brain receptors that link up with BDNF, Dr. Moses Chao of the New York University School of Medicine observed that research shows that the lack of the substance helps cause the neuropsychiatric symptoms of HD (such as depression).

BDNF, he observed, contributes to a number of important activities in the brain, including the development of the cytoskeleton (the skeleton of the cell) and the ability of the synapses to adjust their strength. BDNF also helps cells survive.

As Dr. Chao pointed out, scientists first thought it might be possible to inject BDNF directly into the brain to help patients. However, in their experiments they encountered difficulties in delivering the BDNF, and it proved to be very “sticky,” meaning that it did not move easily in the brain. There were also negative side effects.

More recently, Dr. Chao explained, scientists have sought ways to bypass these problems. That research has focused on the BDNF receptors, molecules in the brain that link to BDNF so that it can carry out its tasks. Scientists are also examining substances that can bind to the receptors and act as a substitute for BDNF.

There may be other ways to raise the amount of BDNF. Dr. Allan Tobin of CHDI, for instance, has conducted a workshop to investigate the use of molecules that could mimic the effect of exercise on the brain and therefore increase BDNF levels.

For further details on the importance of BDNF and the research efforts towards BDNF-based HD treatments, watch the short video below by Dr. Jody Corey-Bloom of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego.

For additional background on BDNF, visit the Huntington’s Disease Lighthouse Family. Also see the report on the CHDI meeting at HDBuzz.

For the latest in HD stem-cell research and BDNF, watch the video below by Dr. Jan Nolta, Professor in the Department of Cell Biology and Human Anatomy and Director of the Stem-Cell Program at the University of California, Davis.

Thinking about exercise

To increase my own BDNF, I exercise regularly.

In 2009, when my wife and I decided to build a pool in our back yard, I installed a Fastlane swimming device that creates a powerful current against which I swim. Weather and time permitting, I try to swim 30 minutes three to five times per week.

I try to vary my exercise routine at least a bit. A few years ago, I went through a cycling phase. At times I also have used an elliptical machine for cross-training of the arms and legs.

Now I alternate swimming with 30- to 40-minute walks with my dog Lenny, a three-year-old male cockapoo full of love and energy.

I read once that, in order for exercise to provide maximum benefit for the body, the individual must think about the exercise while he or she is performing it.

So, for example, I don’t listen to music when walking. And I stopped using the elliptical while watching television.

While swimming in recent months, I have imagined BDNF bathing my brain. In my mind, as I stroke against the current, I sometimes chant a mantra: B-D-N-F.

As I wrote in my blog notes the other day, for me BDNF signifies “beautifully derived neurotrophic factor.”

Breaking the routine

After my September 21, 2011, entry titled “Waiting for symptoms: How long can I hang on?”, Dr. Chao wrote me an e-mail encouraging me to work on increasing my BDNF levels “through increased exercise or any other kind of novel activity (travel, learning a new language, etc.).”

I asked Dr. Chao to comment on a recent study that had left me puzzled and worried after I read about it during the summer. Investigators at the National Institutes of Health found that a particular kind of transgenic HD mouse, living in a cage where it could use a running wheel, became symptomatic earlier, had more severe impairments, and suffered greater damage to the striatum because of exercise!

Dr. Moses Chao at the 2011 CHDI HD Therapeutics Conference (photo by Gene Veritas)

“The article on the detrimental effects of exercise was carried out with a transgenic HD animal model that has not been well studied,” Dr. Chao responded. “I suspect it develops some pathology early on that might interfere with exercise. One issue about exercise is it helps if there is novelty. Routine activity (‘running wheels’) can be brain-deadening.”

Dr. Chao’s comments drove home two points: I needed to vary my exercise and personal enrichment and to enjoy them fully. I must not view the avoidance of onset as an obligation or chore, but as life-affirming.

Neurobics: a way to increase BDNF

Dr. Chao followed up by mailing me a copy of a book by the late neuroscientist Lawrence C. Katz, Ph.D., and writer Manning Rubin titled Keep Your Brain Alive: 83 Neurobic Exercises to Help Prevent Memory Loss and Increase Mental Fitness.

“Neurobics” combines the words “neuron” and “aerobics.”

Many people are familiar with the standard recommendations for giving the brain a workout: crossword puzzles, logic puzzles, reading, memory exercises, and engaging with interesting people and “other kinds of challenging activities that exercise brain circuits in different ways,” write Katz and Rubin.

They recommend that people continue with such activities.

But they should also practice the very different kind of exercises involved in Neurobics. These simple mental exercises serve as cross-training for the brain.

“Neurobic exercises use the five senses in novel ways to enhance the brain’s natural drive to form associations between different types of information,” write Katz and Rubin. “Associations (putting a name together with a face, or a smell with a food, for example) are the building blocks of memory and how we learn. Deliberately creating new associative patterns is a central part of the Neurobic program.”

And they add a point of the utmost importance for for HD-positive and HD-affected individuals: it’s well-established that Neurobic exercises increase levels of BDNF!

“In short, with Neurobics you can grow your own brain food – without drugs or diet,” Katz and Rubin state. “The more active brain cells are, the more growth-stimulating molecules they produce and the better they respond.”

Trying the exercises

Katz and Rubin begin with the example of a simple but powerful stimulant to the brain: when you arrive home at the end of the day, rather than relying on your sense of sight, close your eyes and use your senses of touch, hearing, and smell to guide you into the house.

Another exercise, which I tried yesterday, is to brush your teeth with the opposite hand. For a right-handed individual like me, this stimulates the less-used right hemisphere of the brain.

When I walked Lenny the other day, I followed the book’s suggestion of taking a different route. I sensed it was more stimulating for him, too.

Lenny and I leaving on one of our frequent walks

“It’s rather astounding when you think about it,” Katz and Rubin observe. “A certain kind of sensory experience can permanently change the wiring in part of your brain!”

They conclude: “Neurobics uses an approach based on how the brain works, not simply on how to work the brain.”

Everybody in the HD community (and everybody else, for that matter) should read Keep Your Brain Alive. It provides a treasure trove of information about how our brains work and how to protect them from disease and aging.

Quality, not just quantity

When I first learned of HD because of my mother’s diagnosis in 1995, doctors and researchers told me there was virtually nothing an at-risk or gene-positive person could do. HD symptoms are inevitable.

Since then, scientists plumbing the depths of the brain and diseases such as HD have turned up evidence to the contrary.

I wrote in my notes the other day: “YES!!! There are things we can DO to help our brains stave off HD!”

Neurobics may not prevent me from becoming symptomatic, but it very possibly could delay onset and, when it occurs, reduce the devastation of my brain.

From my contact with Dr. Chao, I have learned that I must focus not only on the quantity of exercise, but its quality. I need to stop frantically overstimulating my brain and instead concentrate on exercise, Neurobics, and other activities that will increase my BNDF.

As Katz and Rubin point out, that includes maintaining a rewarding emotional life based on intimate connections to people.

Living neurobically

For my survival, nothing could be more important than exercise, cross-training my brain, and strengthening ties to family and friends.

Although the hope of treatments has increased dramatically, chances are that a treatment will not become available before my symptoms start.

Through HDSA and this blog, I’ve fought for the success of the HD movement. Soon the moment may come when I will need to focus just on me and my own brain, living my final days of mental clarity as neurobically as possible.

Making sense of Huntington’s organizations, and a call for unity

2011-10-03T13:51:00.000-07:00

HDSA, HDF, HDDW, CHDI: a mini alphabet soup of Huntington’s disease organizations serves the families afflicted by this devastating brain disease, leaving at least some people confused about each entity’s purpose.

While these organizations often collaborate admirably in their common goal of treatments and a cure, they sometimes conflict, competing for attention and resources and/or disagreeing about the best approach to stopping HD.

Sometimes that conflict occurs within an organization, for example, between the grassroots and the leadership.

These patterns are only human, and they apply even to enterprises striving for the utmost in objectivity, including the doctors and scientists seeking to unravel the mysteries of HD.

My experience

I’ve observed and participated in conflicts ever since I formally joined the HD movement in April 1998. In the San Diego chapter, we tried our best to put the cause ahead of politics. In cases of conflict with the national office, we acted according to what we saw as the best interests of our local HD community.

Lately I’ve read complaints in HD Facebook discussion groups about, in the words of one veteran of the HD movement, an “obvious disconnect between the HD community and the HDSA at a national level as voiced in numerous posts online.”

I aim here not to judge or analyze any particular conflict, but, instead, to provide a brief outline of the specific goals of HDSA – the largest and best-established group – and the other HD organizations.

Gaining perspective

I want to help clear up the confusion of the alphabet soup – and suggest how the apparent "disconnect" might be repaired.

I believe that we act most effectively, and harmoniously, when equipped with accurate information and historical perspective. Providing perspective is part of my job as a professional historian. We cannot plan the future without understanding the past.

I’ve studied carefully and have had contact with all four organizations: as an HDSA chapter board member and 2011 HDSA Person of the Year; as a regular correspondent with one of the HDF board members and a student of its activities; as a participant in an HDDW observational trial and collaborator of the organization’s founder; and as the keynote speaker at the 2011 CHDI research conference.

I recognize the powerful influence of my own perspective on this article: as an HD-positive person whose mom died of the disease in 2006, I desperately await a treatment that will save me from losing my mobility and my mind. I expect conflict and even welcome certain kinds of it; opposing ideas often meld into a better one.

But conflict should not lead us to splinter off into so many different directions that we dissipate our energies and lose momentum towards our ultimate goal. I believe that our community must stay focused on care and ultimately the cure. If not, the HD-affected and HD-positive are doomed.

HDSA

HDSA (the Huntington’s Disease Society of America) was founded in 1967 by Marjorie Guthrie, the widow of folk singer and political activist Woody Guthrie, the most famous American to die of HD.

The very first organization to support HD families, HDSA began as a series of support groups and remains the only organization to offer such help. In the Guthrie tradition, HDSA advocated for HD families and, in the 1970s, helped push Congress to set up a commission to study how to eradicate HD.

After the discovery of the huntingtin gene in 1993 created the possibility of effectively treating HD, HDSA emphasized greater fundraising for scientific research. In 1997 it created the “Coalition for the Cure,” which funded HD research projects to the tune of millions of dollars. Scientists competed for grants based on their qualifications and peer review, that is, a careful examination of their proposals by other scientists. Between December of 2005 and January of 2005, HDSA’s “Generation 2000” program brought in $23 million for the Coalition (click here to read more).

Initially, some in the HD community became angry that HDSA had deemphasized its primary mission of supporting care for HD patients and their families. Partly in response to this, starting in the late 1990s HDSA created Centers of Excellence for Family Services and Research, which gave greater visibility and some additional funding to local HD clinics around the country, practically all of them associated with universities.

With the founding of the CHDI Foundation, Inc., in 2003 (see below), HDSA’s role in research diminished substantially. Although it continues to fund some important research, it focuses largely on chapter development, education, family services, fundraising, and advocacy.

HDSA, headquartered in New York City, has a number of development field officers and assistants in various regions of the country. But the organization’s lifeblood is the thousands of individuals active in some 40 chapters and affiliates and 21 Centers of Excellence: affected family members, support group members, volunteers, physicians, nurses, social workers, and others.

In late June, a record total – more than 1,000 people – took part in the 26th annual HDSA convention in Minneapolis, an indication of the organization’s grassroots strength.

At the same time, however, some in the community have criticized the national office in what they see as its inability, or unwillingness, to back local projects or provide assistance to financially strapped families.

Some have also questioned why such a small portion of the HDSA budget goes to research – just seven percent (about $370,000), according to the 2009-2010 annual report. That is a far cry from the early 2000s. Research is the smallest part of the budget, with 26 percent going to family services, 20 percent to fundraising, 20 percent to chapter development, 17 percent to education, and ten percent to “management and general.”

As illustrated below, the CHDI Foundation now provides more research dollars in one year than HDSA did in a decade.

In an interview with me in May, HDSA CEO Louise Vetter acknowledged that the organization’s national board recognizes the need for local assistance but, with a current annual budget of only $8.5 million, lacks the wherewithal to help more than it currently does (click here to read more). She added that HDSA is striving to increase the budget to as much as $20 million. A bigger budget would allow HDSA to increase support for both research and local projects.

Louise Vetter (photo by Gene Veritas)

Despite these frictions, HDSA remains the “go-to” organization for HD families.

In conjunction with the Centers of Excellence, HDSA is the only organization that provides the large array of services essential to the HD community: clinical care, genetic counseling, genetic testing (with an established protocol), support groups, educational and other chapter events, chapter fundraisers, public and legislative advocacy, caregiver assistance, medical publications (including the important Physician’s Guide to the Management of Huntington’s Disease), and the administration of highly crucial clinical trials and observational studies.

(No HD organization provides nursing home care or any published guide on how to find a good facility. Families often must choose a facility for their loved ones on their own.)

HDF

Founded by psychoanalyst Milton Wexler, the HDF (Hereditary Disease Foundation) began in 1968 as the Los Angeles chapter of HDSA. In 1974, Wexler broke off from HDSA to formally start the HDF.

The HDF arose out of the very first major conflict in the HD movement. Wexler, the husband of an HD-affected woman and father of two at-risk daughters, started his own foundation because he believed private research funding, and not just the government support sought by Marjorie Guthrie, should play a part in the quest to find treatments. His and Marjorie’s strong personalities also clashed.

HDF established offices at the Wexler family base in Los Angeles and also in New York. As a scientific foundation, it had no chapters, support groups, or clinics. It had one goal: to promote research towards treatments and a cure. Towards that end, Milton Wexler held seminars with some of the leading scientists of the late twentieth century.

Like the HDSA, the HDF issues grants on a competitive basis. Its single focus allowed it to put a high level of funding in research. In 1990, for example, it spent almost $600,000 on research – nearly double the amount of HDSA.

The HDF spearheaded the search for the all-important gene that indicates HD. Wexler’s daughter Nancy, a Ph.D. in clinical psychology, spent years collecting thousands of blood samples from the world’s largest HD extended family in Venezuela.

This research led to the discovery, in 1983, of a genetic marker for the HD gene, thus permitting the development of indirect genetic tests indicating a person’s probability of carrying the defective huntingtin gene. In 1993 the actual location of the gene was discovered, leading to a 100-percent accurate genetic test. (Click here to read more about Nancy Wexler.)

To a large degree, Nancy Wexler and the HDF’s work laid the basis for a revolution in HD research over the past two decades. In the 1990s and early 2000s, HDF began efforts to discover specific treatments.

Nancy Wexler (left), the late Milton Wexler, and Alice Wexler (photo by Mariana Cook)

Toward that end, in 1997 the HDF foundation received a “substantial anonymous gift” to set up an internal program known as “The Cure Huntington’s Disease Initiative” (CHDI). (This first CHDI should not be confused with the current CHDI Foundation.) According to the HDF summer 2002 newsletter, “the CHDI approaches HD as a problem in practical drug discovery.” It supported research projects for “studying potential new drugs, developing screening methods for quickly assessing the effectiveness of new drugs, and studying the mechanism of disease and potential drug targets” (click here to read more).

In 2003, with CHDI picking up steam, the HDF put more than $20 million into research (click here to read more).

But, like HDSA, the HDF has seen better times in terms of its finances. According to the winter 2010 HDF newsletter, the foundation last year awarded $800,000 in grants and contracts (click here to read more) – less, in real terms, than its 1990 amount. Again, the presence of the CHDI Foundation, discussed below, partly explains this decline.

Despite their initial differences and later frictions, HDSA and HDF maintained a reasonable working relationship.

Today HDF remains on the cutting edge of HD research, attracting great attention from the scientific world at its biennial meetings.

Nancy’s older sister Alice chronicled the early story of the HDF and her family’s struggle against the disease in the acclaimed 1995 book Mapping Fate, from which I have drawn some of the information for this vignette of the HDF. In 2008, she published another important book, The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease, which helps to explain why HD carries such a terrible stigma.

Everybody in the HD movement should read Alice Wexler's books.

HDDW

HDDW (Huntington’s Disease Drug Works) started in 2003 under the leadership of Dr. LaVonne Goodman, a physician to HD families and the president of the HDSA Northwest chapter, and her husband Dr. Nathan Goodman, one of the participants in the historic Genome Project. HDDW is based in Seattle. It has no chapters, support groups, or family services.

While HDSA and HDF sought a long-term solution to HD, the Goodmans instituted a “treatment now” program using safe supplements and medications approved by the federal Food and Drug Administration for other conditions and shown to be effective in HD mice.

For several years, Dr. Goodman monitored a small group of HD patients, but without conclusive results.

Dr. LaVonne Goodman (photo by Gene Veritas)

I have taken the supplements for about six years and, although there is no scientific proof that they have helped me, I remain free of the classic symptoms of HD (click here to read more about my strategies for avoiding HD).

Because Dr. Goodman questioned the conventional wisdom of HDSA and many scientists and doctors, she stirred controversy. She even had to resign as a chapter president.

Several years later, however, Dr. Goodman resumed her collaboration with HDSA and has been a featured speaker at the national convention. She chairs the Northwest chapter’s efforts in family services and education. She has also collaborated with CHDI and the Huntington’s Study Group (HSG), an international coalition of physicians and researchers conducting HD research.

The mother of two at-risk children from a previous marriage, Dr. Goodman today attends to several dozen HD patients in the Northwest.

She now focuses on preparing the community for clinical trials, absolutely essential for testing potential drugs for safety and efficacy. On July 30, she co-organized the Inaugural Clinical Research Symposium in Seattle with support from the Northwest chapter and the pharmaceutical firm Lundbeck.

Dr. Goodman is also working to establish HD “standard of care guidelines” to supplement HDSA’s Physician’s Guide by taking into account care strategies utilized by HD experts around the world. According to Dr. Goodman, the new guidelines “can improve the quality of care delivered by busy doctors who have limited HD experience and need time-efficient guides” (click here to read more).

CHDI

The CHDI Foundation, Inc., grew out of the HDF’s CHDI program. It is backed by the same anonymous donors.

In the HD community, the CHDI Foundation is probably the least known of the organizations, despite its enormous impact since arriving on the scene in 2003.

Like the HDF, the CHDI Foundation focuses on one goal: finding treatments and a cure for HD. It has offices in three cities, but no support groups, chapters, or family services. The foundation’s goals are implemented by CHDI Management, Inc., presided over by Robi Blumenstein, an attorney who built a successful career in merchant banking.

In addition to the HDF, the anonymous donors had previously provided support to the HDSA. In each of the past several years the CHDI Foundation has donated $1.2 million to HDSA.

The donors, however, wanted to try a different research approach from those of HDSA and the HDF and decided to start a new organization.

With the establishment of the foundation and its management firm, the acronym “CHDI” no longer had any official meaning, although in this blog I have continually referred to its original meaning, the “cure Huntington’s disease initiative.”

In the simplest of terms, CHDI Management is a virtual biotech company. I have visited all three of its offices: the administrative headquarters in Manhattan (which also has two researchers) and the research offices in Princeton, NJ, and Los Angeles. CHDI Management has no labs – not even a microscope.

Its impressive staff of “drug hunters” – many of them recruited from the highly competitive pharmaceutical industry – conceive, fund, and manage specific research projects carried out in labs at pharmaceutical companies and universities. In all, CHDI Management scientists work with more than 600 researchers.

CHDI Management scientists travel frequently to consult with the scientists implementing the projects. For several years, I have tracked one of these projects at Isis Pharmaceuticals, Inc., in nearby Carlsbad, CA. With a revolutionary approach, Isis and CHDI Management aim to attack HD at its genetic cause. (Click here to read more.)

At the Princeton office, the scientists are helping design effective clinical trials and ways to measure the effectiveness of the proposed drugs.

Like HDSA and HDF, CHDI Management holds regular conferences. Although some might disagree, I described the CHDI Management meeting as the “Super Bowl” of HD research because of its international reach and intense focus on practical steps towards a victory in the fight against HD.

Scientists at the 2011 CHDI Foundation's research conference (photo by Gene Veritas)

CHDI Management’s annual budget varies according to the needs of the researchers and the projects. In the current year, it plans to spend approximately $100 million. In the fight against HD, it is the largest private initiative ever.

CHDI Management raised HD’s profile in the world of science and put drug discovery into overdrive. Pharmaceutical giants such as Pfizer began to pay greater attention to HD. Whereas no specific treatment strategy existed after the discovery of the gene in 1993, the HD research community has now identified an astounding 700-plus potential targets (ideas for drugs) to attack HD. Much of that progress has resulted from CHDI Management’s massive commitment.

Crucially, CHDI Management has the resources to transform the most promising of those targets into actual drugs and help guide them into clinical trials.

A potentially positive division of labor

About a year ago a scientist starting work on an HD project hinted to me that the lack of a single disease organization might hamper efforts to discover and implement treatments. Why, he seemed to ask, couldn’t our community get its act together?

I understood his point. Drug companies likely would find it easier to deal with one organization. It would also create a perception of unity, as opposed to one of squabbling.

But there is also a positive side to having multiple organizations: the competition of ideas and strategies. Thanks to the current schema, the organizations are less likely to become complacent in their search for treatments and a cure. Unlike the volunteers in the field, disease organization employees earn a living from that quest, and they are more likely to feel passion for their work in an environment of freely flowing ideas, constructive criticism, and healthy competition.

The unique history and focus of each organization also benefit the HD community by creating a sort of division of labor. CHDI and HDF (and also the HSG) do the heavy lifting on research, while HDSA raises awareness and provides the grassroots infrastructure for patient care and clinical trials. HDDW plays a constructively critical, supportive role in the entire process.

Also, sometimes the institutions overlap one another, especially when it comes to research. Many of the scientists receive funding from two or more organizations and attend their respective conferences. What counts most for scientists is not the origin of their funding, but the fact that the money allows them to conduct the research necessary for finding treatments and a cure.

A call for unity

As someone who began my journey with HD at an HDSA support group and worked many years in the trenches as an anonymous volunteer, I sympathize with those at the grassroots who express frustration about HDSA and/or about the other organizations.

However, as someone who has held important leadership positions in my profession, I also understand the challenges of administration.

I believe strongly that several things must happen in the HD community.

With leadership comes great responsibility. The leaders of the HD organizations should always be open to dialogue with the grassroots. They should display a willingness to learn from and even adopt the innovations of the grassroots.

People at the grassroots have a great responsibility, too. They should remember that these organizations must respond to needs expressed from around the country and even from overseas, as CHDI expands the scope of its efforts in the quest for treatments and a cure. Grassroots activists need to resist the very human temptation to adopt an “us versus them” attitude with respect to the leadership, while, however, also maintaining a constructively critical approach and making their voices heard.

Collaboration, negotiation, debate, dialogue, and the search for common points of interest are hard, but I believe that in the end they can bring us more quickly to a victory against HD.

But dialogue needs to be informed.

The members of the HD community should continually strive to learn about the disease organizations. At the same time, each one of us needs to constantly evaluate his or her part in the fight against HD.

In the end, from the presidents to the family stressed out by HD to the volunteers, we all need to remember: Together we can beat this disease!

(Note: This article was originally posted on October 3, 2011, and updated on October 4, 2011, to correct several factual errors.)

Waiting for symptoms: How long can I hang on?

2011-09-21T21:15:00.000-07:00

As someone who is gene-positive for Huntington’s disease, I live in an uncharted gray zone as I await the onset of the same kind of devastating symptoms that took my mother’s life in 2006.

My gray zone had a precise beginning: on June 7, 1999, I received the results of my genetic test, which showed that I had inherited the abnormal HD gene from my mother.

However, I don’t know the point where the gray zone ends and a much darker fate awaits. Although the onset of this 100% genetic condition is inevitable, its exact timing and manner are not precisely predictable.

So I play the terrible “waiting game,” wondering and worrying about onset and the impact it will have on my job, my family, and my health.

Increasingly, I ask myself the question: “How long can I hang on?”

So far, no classic symptoms

My mother’s initial, psychiatric symptoms, such as emotional upset, probably started in her late forties. By the age of 55, and most likely earlier, she had chorea, the shaking and trembling movements typical of this brain disorder, in her case first evident in her legs while lying in bed at night, then affecting her hands and head. Ultimately, HD destroyed her ability to walk, talk, and think.

At the end of this year I will turn 52. All of the research on HD suggests that by now, based on the averages, I should be having symptoms.

Scientists have demonstrated that “premanifest” HD people like me suffer harmful changes in the brain ten or even more years before the start of the classic, easily observable symptoms. HD is likely attacking my brain cells already, perhaps causing subtle changes in my sense of smell or eyesight.

However, as of my last HD checkup in December 2010, I displayed none of the classic effects. As far as I can tell, I continue to live like any “normal,” healthy person.

Strategies for health

Over the years, I’ve been asked the question of how I have avoided onset. I’ve referred to a number of strategies in this past posts (for example, click here).

In brief, I exercise at least 30 minutes per day, eat a proper diet, cultivate my mind through my work as a college professor and activist for the Huntington’s Disease Society of America, consult a psychotherapist, and take medications that combat depression and anxiety and protect my brain.

I take the basic supplements – though their efficacy is still under study – recommended by the Huntington’s Disease Drug Works program: creatine, coenzyme Q-10, trehalose (a sugar), blueberry extract pills, and omega-3 fish oil pills.

I also keep in touch with a network of friends and supporters and dedicate myself to my wife and 11-year-old, HD-free daughter. I strive to deal with stress positively, and to deepen my spirituality.

Writing for this blog provides an outlet for my deepest fears and connects me to my brothers and sisters in the HD community.

A lucky man

I can’t prove that any of these strategies has actually prevented onset. It’s possible that other factors such as an undiscovered modifier gene (a gene influencing the time and manner of onset) might also be keeping me symptom-free.

But I know that none of my strategies is causing harm. For example, I undergo periodic blood tests to verify that the large amount of creatine I ingest is not harming my liver or kidneys.

A lot of what I do (or don’t do, such as heavy drinking) belongs to many healthy people’s recipe for a happy and stable life.

Whatever the reason for my delayed onset, I consider myself EXTREMELY LUCKY.

That feeling is particularly acute when I’m reminded of people my age or even younger who already have full-blown symptoms.

A ‘mild’ case?

I’ve received several messages of encouragement from readers of this blog, basically along the following lines.

You won’t get HD until you’re in your sixties.

You’ll only get a mild case of HD.

You’ll have the disease, but be able to function almost normally.

You’ll live with the disease until you’re 80 (unlike my mother, who died at 68).

I often think of my HD friend Julie, in her sixties, who’s lived with HD symptoms for a number of years but can still write eloquently and speak to me on the phone.

“You need to be like Julie,” my wife tells me with hope and conviction.

But I also know that HD could attack forcefully, turning me into a mere shadow of myself and leaving me completely dependent on my wife, daughter, and others for the most basic of necessities.

As my wife pointed out not long ago, a man’s fifties seem to carry the greatest risks for his health. (My father, for instance, suffered a heart attack at the age of 54.) I feel that if I can get to sixty with few or no symptoms, I might indeed get only a mild case of HD. And, by then, treatments should be available.

A precious gift

Each moment without HD symptoms is a precious gift.

A gift that allows me to help coach my daughter’s soccer team.

A gift that lets me to enjoy a movie or a good book.

A gift that allows me to invite my wife out to dinner and afterwards take her on a relaxing drive.

A gift that gives me the time to prepare for the future and be thankful for all that I have.

And then I worry: what will the doctor say in a couple months after my next HD annual checkup?

I am hanging on. For how long, I don’t know. But while I am, I intend to make every moment count.

That’s when I recognize another facet of the gift: the opportunity to help other HD families in need and join with them and researchers in the search for treatments and a cure.

(For the latest on HD research in the wake of the 2011 World Congress on Huntington’s disease, please visit www.HDBuzz.net.)

One Man's Story: Entering the Light

2011-09-02T23:05:00.000-07:00

(At the invitation of the Huntington’s Disease Society of America [HDSA], I wrote this article for the September 2011 issue of the HDSA support group newsletter We Are HDSA!)

By Gene Veritas, author of At Risk for Huntington’s Disease and recipient of the 2011 HDSA Person of the Year award

As a severely disabling and fatal brain disorder, Huntington’s disease carries a deep stigma that often leads individuals and even entire families to hide the truth about their situation.

In learning of my mother’s diagnosis of HD on the day after Christmas of 1995, I wanted to get tested immediately. However, my mother’s geneticist and the president of the local HDSA chapter warned me against rushing into a test. They pointed out that gene-positive individuals sometimes faced discrimination from employers and insurance companies. So I postponed testing, and I kept my at-risk status private.

I thus entered the “HD closet,” a terrible and lonely place where I struggled with the wrenching fears of HD as I watched my mother decline.

In June 1999, I tested positive for HD. That life-jolting event caused me to retreat even deeper into the closet.

I lived in the grips of a massive contradiction: activism for HDSA and the need to shield myself from discrimination.

Enthusiastically, but anonymously, I served on the board of the San Diego Chapter of HDSA from April 1998 to October 2010.

In 2005 I started the blog At Risk for Huntington’s Disease. To protect my identity, I adopted the pseudonym “Gene Veritas,” the “truth in my genes.” Since then I have written regularly about the many challenges of HD – including the deeply frustrating experience of the HD closet.

But I knew that, if I wanted to truly defeat stigma, I someday would have to exit the closet.

Thanks to a combination of factors, in 2010 I began giving public speeches about my situation, using my real name.

Now in my fifties, I feel I have sufficient gravitas to negotiate the inevitable complications, including discrimination. Crucially, two pieces of federal legislation have given me and other gene-positive people support: the Genetic Information Nondiscrimination Act (GINA) of 2008, which bars certain kinds of discrimination, and the 2010 health-care reform law (the Patient Protection and Affordable Care Act), which, in 2014, will prohibit denial of coverage to people with pre-existing conditions.

Most importantly, HD researchers are making great progress, giving me the confidence that an eventual treatment or cure would end the HD closet forever.

From the scientists, I have begun learning that the closet poses a huge obstacle to their work. Without the active participation of our community in clinical trials and other experiments, the researchers cannot test potential treatments for safety and efficacy.

In my new role as a public advocate and as the 2011 "HDSA Person of the Year," I urge everybody in our community to get involved, summoning up the courage we know we possess to exit the terrible and lonely HD closet.

You can make a difference in many ways: by attending the local HD support group, volunteering for your local chapter or affiliate, and joining in HDSA’s advocacy and fundraising efforts. I also sincerely believe that if you are at risk, you should seriously consider the possibility of genetic testing.

You can also contact your local HDSA chapter or Center of Excellence to learn more about observational and clinical trials.

Above all, as we exit the HD closet hand in hand, it’s time to tell a friend or relative about Huntington’s disease and how it affects your family’s life. Your personal testimony provides the most effective way to fight stigma, inspire others to join the cause, and build awareness about the need to defeat HD.

Do-or-die time for Huntington’s clinical trials

2011-08-24T12:25:00.000-07:00

It’s do-or-die time for the Huntington’s disease community.

We must meet the challenge of participating in clinical trials – or run the risk of those trials failing. That means thousands of patients will need to sign up with the help of their physicians, caregivers, research centers, universities, and outreach programs such as the Centers of Excellence of the Huntington’s Disease Society of America (HDSA).

Never before has the research towards treatments and a cure shown so much promise. As I have pointed out in previous articles, very soon scientists and drug companies will start testing those potential treatments for safety and efficacy (click here to read more).

The stakes are enormous.

Successful trials would produce the long-awaited treatments for the cruel condition that afflicts tens of thousands of families around the world and threatens the millions who are at risk or, like me, carry the abnormal, disease-causing gene. Other disease groups could benefit, too, such as Alzheimer’s and Parkinson’s patients.

Failure could relegate yet another generation to life in a wheelchair and the destruction of their brains.

Renewed urgency

My mother died of HD in 2006. Her symptoms began in her late 40s. At 51, I could experience onset very soon.

On July 30, I renewed my fight against HD with a speech in Seattle urging at-risk, gene-positive, and HD-affected individuals to participate in observational studies and/or clinical trials. I spoke at the 2011 Inaugural Clinical Research Symposium, sponsored by the Northwest Chapter of HDSA and Lundbeck.

Organized by Dr. LaVonne Goodman, the founder of Huntington’s Disease Drug Works, and other members of the local chapter, this at times technical but mainly uplifting event featured me and four other main speakers presenting various angles of the potential clinical trials and providing some of the latest news about HD research.

Dr. Goodman (left), Gene Veritas, and HDSA NW Chapter President Linda Ingle

A matter of numbers

People need to confront HD now, I emphasized in my presentation, titled “What HD Families Should Know about Clinical Trials: Initial Thoughts from a Gene-Positive Activist.”

“We need to encourage all of our families to become involved in this process so that when it’s time to sign up for the trials, we have enough people,” I told the approximately 80 people in the auditorium of the Evergreen Hospital Medical Center.

“Why is this so important? If you look at Alzheimer’s disease, where there are millions of people with the disease, or you look at Parkinson’s, where there are a million people, or heart disease, where there are millions of people, it’s not all that hard to get people to sign up for trials.

“But how many HD people are there in the United States? Well, there’s only about, tops, 30,000 symptomatic HD people in the United States. That’s not a lot of people when you take into account the fact that sometimes a trial may need hundreds or maybe more than a thousand people. And you can’t be in more than one trial at the same time…. Very quickly you’re going to run out of the number of people you need to participate.”

Old fears, new hope

I encouraged people to exit the “HD closet” and to combat the stigma and denial surrounding the disease.

“Many of us in the Huntington’s disease community are hiding,” I stated. “We’re afraid of getting tested. We’re afraid of telling our insurance plans that we have or are at risk for Huntington’s disease. We don’t want to tell our employers….

“Now, with the new hope of clinical trials, it’s time, I believe, for us to exit this closet.”

I stressed the importance of reevaluating our community’s fear of genetic testing for HD. I explained that, from my own test in 1999, I know the experience can be frightening. Many people – such as my at-risk sister, the mother of three grown boys conceived long before we knew about HD – decline to test because of the lack of treatments.

“Why should I find out this horrible news about myself and then know that there’s no treatment, that there’s no cure?” I said, putting myself in untested people’s shoes. “But the fact of the matter is that there is hope today, and I believe, from my own personal standpoint, that we now have a very big reason for getting tested and finding out our status and getting involved in the community. And that reason is the hope of the clinical trials and these potential drugs that are coming out of the pipeline.”

Stressing the positive

I told the audience I knew I was “preaching to the choir,” which, unfortunately, is but a small minority of the HD community. How, I asked, do we educate people about the new hope of HD research and the upcoming clinical trials?

“It’s time to start to deemphasize the phrases, ‘HD is incurable. HD is untreatable,’” I proposed. “As a scientific and medical fact, yes, those are accurate statements. But I strongly believe … that in the next few years we’re going to see some treatments that are going to attack the causes of Huntington’s disease. I believe we’re going to see in our lifetime Huntington’s disease managed as a disease just as diabetes is managed and cholesterol is managed and other problems in the human body are managed with medication. I think we’re going to find all kinds of revolutionary ways for doing that.”

You can watch my entire presentation in the video below.

Gene Veritas: What HD Familes Should Know about Clinical Trials from Gene Veritas on Vimeo.

The basics of clinical trials

Later in the day Dr. Goodman, physician to several dozen HD patients, provided essential details about the workings of clinical trials in a talk titled “The A, B, C’s of Clinical Research: HDSA’s Initiative.”

“I belong to an HD family, having lost my husband to Huntington’s disease, and I have two biological children with my first husband who are at risk,” Dr. Goodman began. “So I am in the same boat as many of you.”

The chair of family services and education for the Northwest Chapter, Dr. Goodman noted that HDSA has placed an increased emphasis on involving people in clinical trials.

She stressed that all members of the HD community can and should join the effort.

Participating in a trial is “empowering” and “fulfilling” and allows people to take “control over this disease, as much as you can,” she said. “If you help someone be in a clinical trial, but couldn’t have been in one, then you have been very integral to the success of that clinical trial,” she said.

Success will come only with hard work and perseverance, she added. “Most trials don’t have positive outcomes. We have to be prepared for that too.”

Critical studies

Dr. Goodman gave an overview of current and recent research studies, which lay the basis for clinical trials:

PREDICT-HD, examining asymptomatic, gene-positive individuals to understand the development of initial symptoms;

TRACK-HD, following the early to middle stages of the disease;

COHORT, examining patients and at-risk adolescents over the long run;

Enroll-HD, replacing COHORT, aiming for a worldwide database of 10,000 people, including patients, at-risk, and gene-positive individuals, and including a care component focusing on available drugs, stigma, qualify of life factors, and the design of a standard of care for patients to assist the many physicians unfamiliar with HD;

FuRST-pHD, developing a scale of measurement to assess clinical trials in patients with early symptoms;

and CAB-Beta, seeking to improve cognitive testing to be used in clinical trials.

Dr. Goodman (photo by Gene Veritas)

Boosting planning and recruitment

Dr. Goodman pointed out that the research studies aim to speed up the planning and administration of the clinical trials, as well as the crucial recruitment of participants, and reduce the duration of the trials.

“Except for the first CoQ 10 trial and the Xenazine trial by Lundbeck, every single HD trial we’ve had has been delayed because of slow recruitment – every single one,” she stated emphatically, referring to Coenzyme Q10, an anti-oxidant, and to the commercial name for tetrabenazine, the very first drug approved for HD in the U.S, to help reduce the shaking movements typical of the disease. “They’ve had some going on for years looking for 100 people…. We don’t have that much time.”

She added: “One of the big costs is when the clinical trial is dragged out by slow recruitment. So not only are little companies discouraged by this, but big companies, too. Now if we show drug companies that we can come to clinical trials quickly, they’re going to be much, much more interested in us. We want all of those drug companies to come on. The more, the better.”

Dr. Goodman cited the example of a clinical trial in the U.S. for ACR-16, another drug in development for treating the shaking movements, known as chorea: it took the trial administrators two years to recruit 250 people.

The sooner and faster trials can be implemented, the earlier the benefits of treatments can reach patients.

Heroes and roses

For an individual, taking the first step towards a research study or clinical trial can be hard, Dr. Goodman said. But that step is important.

“We learn from each clinical trial, even if it’s negative,” she said. “To win a war, we’re going to have to take our time, energy, sweat, and tears.”

And, she added, “there will be some risk,” which researchers and the federal Food and Drug Administration (FDA) are striving to minimize with the required pre-testing in animals. “But the first person is still the first person,” she said.

Yes, that first person will face risks, she allowed, “but there will also be heroes.”

Dr. Goodman then asked all past trial participants in the audience to stand, the cue for volunteers to distribute roses to each one in recognition of their contribution to HD research.

Mike Hyer, a participant in the Predict-HD study (photo by Gene Veritas)

“These are the people who are going to help bring treatments,” Dr. Goodman said.

She also recognized the people unable to participate in trials but who are also “heroes for living with HD.”

You can watch Dr. Goodman’s presentation in the video below.

The ABCs of HD Clinical Trials: A Talk by Dr. LaVonne Goodman from Gene Veritas on Vimeo.

Biology, leadership, and stem cells

The symposium’s three other featured speakers were Dr. Keith Elliston, the Vice President and Senior Research Leader of Systems Biology at CHDI Management, Inc., the so-called “cure Huntington’s disease initiative” backed by a wealthy, anonymous donor; Judy Roberson, the president of the Northern California Chapter of HDSA and the Joseph P. Roberson Foundation; and Dr. Jan Nolta, Professor in the Department of Cell Biology and Human Anatomy and Director of the Stem-Cell Program at the University of California, Davis.

Dr. Elliston’s presentation focused on new approaches to seeking treatments for HD through the techniques of systems biology, “a way of studying biological systems not as individual sets of components, like a collection of parts lying on a highway, but as an integrated working system, like a working vehicle.”

You can watch his fascinating presentation in the video below.

Systems Biology: A New Approach to Developing Therapies for Huntington's from Gene Veritas on Vimeo.

Roberson told the moving story of her late husband’s fight against HD and her courageous campaign to raise funds and awareness for HD research and the care of patients at the HDSA Center of Excellence at UC Davis. Roberson was recently named as a representative of the HD community in the FDA’s planning process for HD clinical trials.

You can watch her inspiring presentation on “making a difference for people with HD” in the video below.

Get Involved: Making a Difference for People with Huntington's Disease from Gene Veritas on Vimeo.

Dr. Nolta spoke on her efforts to use a well-known type of stem cells, called “mesenchymal stem cells” (MSC), to develop two potential treatments for HD. Dr. Nolta referred to the MSC as “paramedics” because of the way they congregate around and repair damaged cells. Injected into the brain of an HD patient, the MSC might be able to repair damaged neurons (brain cells) and restore the vital connections between them.

You can watch Dr. Nolta’s presentation, which includes the latest developments in her research, in the video below.

Towards Stem-Cell Treatments for Huntington's Disease: Talk by Dr. Jan Nolta from Gene Veritas on Vimeo.

No time for complacency: get ready for HD clinical trials

2011-07-28T15:48:00.000-07:00

In the past few years, scientists have made huge strides towards treating and perhaps even controlling Huntington’s disease, whose killer gene inhabits every cell of my body. While scientists scrupulously avoid providing false hope, even the most pessimistic among them now talk of “when” a treatment or treatments will come, not “if,” as international HD spokesperson Charles Sabine observed last October at the annual Huntington’s Study Group conference in San Diego, CA.

That’s enormous progress, compared to a decade ago, when practically no pharmaceutical companies showed interest in HD.

But this is no time for complacency. On the contrary, as labs ramp up for potential clinical trials to test the first group of the 700-plus potential “drug targets” for HD, many daunting challenges and tasks remain.

I plan to deliver this message in a speech this coming Saturday, July 30, at the 2011 Inaugural Clinical Research Symposium of the Northwest Chapter of the Huntington’s Disease Society of America (HDSA) at Evergreen Hospital Medical Center in Seattle, WA (click here for the program). The speech will be titled “What HD Families Should Know about Clinical Trials: Initial Thoughts from a Gene-Positive Activist.”

The clinical trial administrators will need a large number of symptomatic people to participate, ranging from 20 to as many as a couple thousand people per drug. With only 30,000 people in the entire U.S. affected by HD, it may prove impossible to fill the numerous spots in the trials.

That is why CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” has inaugurated Enroll-HD, the first-ever worldwide database of at-risk, gene-positive, and HD-affected people, in order to expand the base of possible trial participants.

All must chip in

As advocates like Charles and me have pointed out, those active in organizations such as the Huntington’s Disease Society of America (HDSA) can no longer limit our focus to fund-raising. At-risk, gene-positive, and affected people must also collaborate with the researchers and physicians in the process of planning and implementing the trials.

Preparing for potential trials requires that we care for our health as much as possible.

And, as I wrote in 2009, the untested in our community, who constitute a majority of the at-risk, need to muster the courage to learn their status. With the hope of treatments, refusing testing makes less and less sense. And, if people don’t get tested, they can’t participate in a trial.

In short, if we all don’t chip in, treatments won’t be found.

The painful barrier of denial

Chances are, if you read this blog, you already agree with this outlook. You’re probably active in the HD effort in some way. So, as they say, I’m preaching to the choir.

We need to reach out to those in the community who shun involvement, usually out of fear, and sometimes out of ignorance.

I know all too painfully how denial works.

My mother Carol died of HD in 2006 after battling HD for nearly two decades. Her at-risk, untested brother and his wife hid the truth about her disease from their children and their families by attributing Mom’s symptoms to “mental problems.”

A split family

I am also estranged from my own sister, the untested mother of three at-risk, untested adult sons whom she conceived before my mother’s diagnosis. She prefers to do nothing, because she does not believe, or is unaware, that there is hope. She is completely uninterested in advocacy, research, and trials.

As a gene-positive activist, I personify the knife-edge of HD for my family. My sister became especially uncooperative after the birth of our “miracle baby,” who tested negative in the womb. My sister was jealous for two reasons: we had a daughter, and she was HD-free.

In reading this description of my own family, many will knowingly nod in agreement. Denial is powerful, and it is everywhere. Combined with the sorrow, frustration, anger, and fear provoked by HD, it splits families apart.

I have fought back against the threat of HD by participating in numerous observational trials and advocating for the cause.

But I have yet to figure out a way to involve family members so deeply in denial – and so angry at me whenever I raised the issue of HD, directly or indirectly.

Living by example

As Charles observed, it will be truly tragic if people are not ready for clinical trials.

But we must not give up. Through this blog and my activism I have met many people new to HD and looking for ways to help. We need to welcome these individuals and their families with the greatest of attention – and love.

And we must live by example, because, in the end, our actions will carry far more weight than our words.

Defining success together

The HD community also can participate actively in the clinical trial process by helping researchers, physicians, drug makers, and the federal Food and Drug Administration (FDA) define a successful drug and how to measure that success.

HD causes a triad of symptoms: motor (shaking known as chorea and problems with coordination), cognitive (memory and mental abilities), and psychiatric (emotional disturbances). For a long time, scientists have spoken of the need for a “cocktail” of drugs to combat the triad and their numerous causes in the brain and brain cells.

So far, only one HD drug – tetrabenazine – has received FDA approval. Marketed by Lundbeck as Xenazine, this medication reduces chorea but does not affect the causes of HD.

The new generation of drug targets would indeed attack the causes. Researchers and drug makers theorize and hope that these targets would improve or perhaps even eliminate particular symptoms, but many of these new kinds of drugs represent uncharted scientific territory. Until the trials get underway, nobody will know how patients will respond.

So, even before trials start, patients must help define specific outcomes for the trials.

Maintaining functionality and personality

During the question-and-answer session after my May 17, 2011, speech at Alnylam Pharmaceuticals, I outlined what I thought were signs of success.

“From my standpoint, wow, maybe I will never have symptoms of Huntington’s disease,” I said in reflecting on the proposed Alnylam RNA interference drug, intended to attack the disease at its genetic roots and possibly ready for a Phase I trial as early as 2012. “That would be my hope as a patient.

“For the longest time, it’s like, ‘Well, you’re going to get sick.’ The question is: ‘When are you going to get sick? And how sick are you going to get? And what can you take to stop it?’…

That response came from my individual perspective as a gene-positive, asymptomatic individual – what the scientists refer to as the “presymptomatic” stage of HD.

But I also gave my opinion as to what symptomatic HD patients might want from a drug. I thought of my mother, who had been reduced to a “mere shadow of herself.”

We need drugs that will help people maintain their “basic functionality” and personalities. A bit of chorea would probably be acceptable as long as a person retains his or her mind and can go to work, I said.

“People want to keep their personality with this disease,” I said. “They want to be recognized as individuals. They don’t want to be seen as sick; they don’t want to be seen as drunk; they don’t want to be seen as disabled individuals.”

But I’m just one voice. More people need to give their opinions on this still very open question.

Strengthening the patient-researcher bond

As is often the case, I have only just scratched the surface of one of the many issues surrounding Huntington’s disease.

It’s clear that we all need to educate ourselves about the kinds of medicines under consideration and how they might affect the disease.

I hope to do my small part at the Seattle symposium. Across the country, our community needs more events such as this.

But in addition to speaking, I want to brainstorm with the audience about the definition of pharmaceutical success and absorb the other speakers’ ideas about clinical trials.

The HD community has a long reputation as one in which patients and researchers collaborate effectively. Now, as we get ready for historic clinical trials, we need to further strengthen that crucial bond.

Some reflections on being named 'HDSA Person of the Year'

2011-07-08T16:54:00.000-07:00

With a feeling of great humility and immense responsibility I received the news that the Huntington’s Disease Society of America (HDSA), at its national convention on June 25 in Minneapolis, had named me the 2011 HDSA Person of the Year.

As I wrote here on June 21, I was excited about attending an HDSA convention for the very first time. Alas, that same day I came down with a fever and nasty sinus infection and could not travel.

I did not know about the award. At home recovering, I happened to check e-mail on the night of the 25th. I was stunned! Several messages stated that I was receiving the award and that the announcement prompted a standing ovation. (A record 1,000-plus people attended the convention.)

Don Barr, the chairman of the HDSA Board of Trustees, and Louise Vetter, CEO, presented the plaque, accepted in my absence by trustee Rob Millum, my friend and also a member of the HDSA-San Diego board.

An award for inspiration

HDSA gives this award “to someone who has been an inspiration to others,” Barr told the audience at the HDSA closing ceremony. He noted my work as a member of the HDSA-San Diego board, gene-positive blogger, stem-cell research advocate, and speaker at biotech companies.

Above, Don Barr (left), Rob Millum, and Louise Vetter with my plaque (photo by Ashley Miller). Below, a detail of the plaque (click on image to see larger view) (photo by Gene Veritas).

Barr stated that I had “given a face to this often faceless disease” and “inspired countless individuals who are at risk or gene-positive to express themselves without fear and to let them know that they are not alone in the face of HD.”

For those who fight

Shana Martin, the HD activist, top athlete, and model, posted a note of congratulations on my Facebook page, as did friends and acquaintances in the HD community.

“I am stunned and flattered to receive this recognition, and sad that, because of illness, I could not attend the convention,” I responded to these notes. “I want to remember my mom Carol, who died of HD in 2006, and my ‘HD warrior’ father Paul, her caregiver, who died in 2009. The honor is for the battle they fought – and for the battle that our entire community fights each day.”

On that night, I deeply missed Mom and Dad. They would have been proud of me. I felt sorrow that the collective efforts of HDSA, researchers, and advocates like me had not produced a treatment in time to save Mom, who died at the age of 68 after battling HD for more than 15 years.

My parents, Paul and Carol, in January of 2004 (photo by Gene Veritas)

I know, too, that this award is not just for me, but for everybody affected by HD: the at-risk, the gene-positive, the symptomatic, the families, and the unsung heroes of America, the caregivers.

And I have huge shoes to fill in the HDSA Person of the Year tradition, which stretches back more than ten years.

Here’s a list of past awardees, in reverse chronological order: 2010, Katie Moser; 2009, Kris O’Brien; 2008, Bob Leck; 2007, Frank Hiscock; 2006, Gary Nash; 2005, Bruce Veneklase; 2004, Bryan Medrano; 2003, Karen Milek; 2002, Gary Elliott; 2001, Phil Hardt; 2000, Marc Church.

A new departure

For me, the Person of the Year Award is not an endpoint, but a new jumping off point.

As Don Barr noted in making the presentation, I long worked behind the scenes for the HD cause. In 2010 and 2011, however, I began exiting the “HD closet” by giving several speeches, going on the radio, and posting videos of myself on the web.

I hope to use the award’s prestige to build even greater awareness about HD and to encourage the research community to redouble its efforts in the search for treatments and a cure.

I especially hope that I can use this award to combat the stigma surrounding HD and other neurological diseases.

Time for leadership

I’ve reached a stage in the cause, and in my life as a gene-positive person, when I must exercise leadership.

I must get back in the HD trenches to continue my fight as before. I cannot shy away from new challenges such as the need to help prepare the HD community for potential clinical trials for the possible drugs now in development in labs. (On July 30, I’ll be speaking on this topic at an HDSA symposium in Seattle.)

Convention participants at the closing ceremony (photo by Ashley Miller)

Leadership takes place on many levels and in many venues of life: family, work, community, religious organization, advocacy, and politics.

Everybody can lead in his or her own unique way. All of us in the HD community must play our part to strengthen our movement.

I’ll be with you, shoulder-to-shoulder, as we work for better care and seek the cure.

Face to face at the Huntington's disease convention

2011-06-21T21:14:00.000-07:00

I’ve known about Huntington’s disease ever since my mother’s diagnosis in 1995. For just about as long, I’ve been affiliated with the Huntington’s Disease Society of America (HDSA). I joined the HDSA-San Diego support group in 1996 and served on the chapter board from 1998 to 2010. Last month I visited HDSA national headquarters in New York, where I gave an informal talk to the staff about my struggles as a person who is gene-positive for the disease.

Still, work and travel commitments have prevented me from ever participating in the organization’s annual convention.

That’s about to change this coming Thursday, June 23, as I travel to Minneapolis for the 26th annual convention, held at the Sheraton Bloomington Hotel.

A record 1,000-plus registered individuals are expected to attend. I am looking forward to meeting people from other HD-affected families, brainstorming on how to strengthen our cause, and sitting in on several workshops and other activities scheduled for the June 24-25 agenda. Among others, these include explanations of the disease, caregiving issues, advocacy, and a major session on the latest research developments. (Click here for a complete list.)

It should also prove highly rewarding – and hopefully plain fun, also! – to solidify some of the many online friendships I have developed over the years through this blog and my presence on Facebook.

A pivotal year

I’m bracing myself emotionally for what should be a very poignant experience.

In June I normally visit Brazil to conduct research as a professional historian. However, for the first time in a quarter century, I am skipping my annual visit to the country that is my second home and the birthplace of my wife. (She and our HD-free ten-year-old daughter arrived in Rio de Janeiro last Saturday after we spent a short vacation together in Florida visiting the Harry Potter theme park at Universal Orlando.)

This leaves me sad and reminds me once more of how HD has stolen many of our dreams as a family.

It also symbolizes the big shift in my life as I more carefully focus my efforts to help scientists in their quest for treatments and a cure.

In that respect, this year has become pivotal. On February 7 I delivered the keynote address to some 250 scientists, physicians, pharmaceutical company representatives, and others at the 6th Annual HD Therapeutics Conference in Palm Springs, CA, on February 7. On May 17 I gave a similar presentation to about 50 scientists at Alnylam Pharmaceuticals in Cambridge, MA, and held a sample of the company’s potential drug in my hand.

At the HDSA convention on June 25 I’ll take part in the traditional candle service, where representatives of the community light candles for the various groups within the HD community. My candle will represent “the hope of people living with HD.”

For me, this will be a great moment of solidarity. I will also be thinking of my mother, who died of HD in February 2006.

I know, too, that I’ll probably see scores of HD people – each one a reminder of my future as I await the inevitable onset of symptoms that characterizes HD.

Is a convention necessary?

Echoing the critical remark I read on Facebook yesterday, some might question the wisdom of holding a convention when so many HD families are in dire need. Attending a convention is beyond their means financially and/or logistically. They need help in the HD trenches.

Indeed, last month I wrote a blog article titled “S.O.S. for Huntington’s disease families." The article discussed the loss of income and extremely burdensome caregiving costs faced by these families. The demand for assistance far exceeds what HDSA can provide with its $8 million annual budget.

HD families should always question the goals and activities of the organization. Indeed, they are the organization. Only in this manner can our organization improve.

Over the years I have attended conventions and meetings of various kinds for professional or other reasons. Conventions are only as good as the people who attend and the ideas they contribute.

I am looking forward to the HDSA convention, because, in addition to the reasons I outlined above, it will provide me with the opportunity to meet people face-to-face, to see their body language, to build trust and camaraderie, and to exchange ideas freely.

I believe that this kind of contact can reinforce teamwork and strengthen our movement. Hopefully it can also bolster our hearts and souls.

As always, I’ll have my camera, voice recorder, and camcorder in hand to capture some of the highlights of the convention, and I’ll be blogging on the results upon my return.

* * *

Speaking of conventions, it’s time to sign up for the World Congress on Huntington’s Disease, to be held in Melbourne, Australia, from September 11-14. Interested scientists and members of the HD community can obtain more information about this all-important event by clicking here.

* * *

In my last article, “The Huntington’s disease high-wire act,” I neglected to mention that a book with a similar title, On a High Wire, Without a Net! Living with Huntington’s Disease was published in 2009 by HD activist and writer Susan E. Lawrence. Susan also wrote Sheltered from the Storm: Preparing for the HD Onset. Both books are valuable resources for our community.

* * *

This is my 101st posting in this blog! I began At Risk for Huntington’s Disease in January 2005. Let us all hope that sometime within the next 100 postings we can celebrate a major breakthrough towards a treatment for HD.

The Huntington's disease high-wire act

2011-06-08T22:51:00.001-07:00

As a carrier of the gene for a deadly brain disease, I fight back with the instinctual urge for survival.

I dread the threat of that incurable killer – Huntington’s disease – as I recall my mother’s own struggle against it. For some 15 years, as I watched her lose the ability to walk, talk, and think, I looked into a genetic mirror that foretold my own future.

In the months before and especially after her passing in February 2006, I grappled with the fear of death. For the first time in my life, I knew I would die, and that death would come only after a decade or more of suffering. I am reminded of that harrowing reality each time I see an HD person or communicate with HD-affected families.

I also nurture hope that scientists will discover an effective treatment – perhaps even a cure – and therefore make my gene-positive status at best irrelevant and at worst a manageable, chronic condition, like diabetes. In the meantime, I watch my health and take supplements recommended by the Huntington’s Disease Drug Works program, try to squeeze in as much life as possible before my inevitable symptoms begin, and immerse myself ever more in my “shadow career” as a Huntington’s disease advocate.

In this race against time, I oscillate between dread and hope while struggling to balance the many facets of my life: profession, family, health, faith, and activism.

Tough decisions

“So many tough decision and choices,” wrote a good friend after reading about my shadow career. “You are like a tightrope walker, like the ‘Man on a Wire.’ Did you ever see that wonderful film? I recommend it – because living with a positive gene test as you are, balancing so many things, is a bit like what he does.

“And like him, you are an artist with a beautiful, amazing sense of living in the moment even while looking ahead.”

I was long intrigued by the theme of Man on Wire but hesitated to watch it, perhaps fearing that it would indeed remind me too much of living gene-positive for HD. Last Sunday, June 5, I finally watched it.

In walking on a wire between the World Trade Center’s Twin Towers in 1974, French aerialist Philippe Petit demonstrated how he lived out his ultimate fantasy joyfully – but also precariously, tempting mortality.

I know many people in the HD community performing their own, tragic tightrope acts – like the young adults pondering whether to test, couples debating the genetic risks of pregnancy, and caregivers weighing the decision to place a loved one in a nursing home.

Whereas Petit chose to risk his life on the wire for 30 minutes and had to be coaxed off of it by the police, HD people and their families are forced onto the wire and cannot get off. Although many still find moments of joy, all long for the treatment or cure that will end this ultimately nightmarish act.

Passion vs. obsession

My own personal tightrope includes yet another kind of balancing act: between passion and obsession.

Since joining the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego) shortly after my mother’s 1995 diagnosis, I have put great passion into the cause.

But sometimes I lose my balance, and the passion becomes obsession.

After speaking at Alnylam Pharmaceuticals in Cambridge, MA, on May 17 and holding a potential cure in my hands in the company’s lab, I couldn’t wait to share my excitement with others in the HD community. On the plane ride back from the East Coast on May 21, I worked on a blog article about the Alnylam trip non-stop for six hours.

My passion remained on full throttle when I arrived at home. I practically ignored my family and other activities for the next several days. Only after I posted the Alnylam article on May 25 could I start to come down from the trip.

A radio interview

In the midst of the Alnylam trip and its aftermath I needed to decide whether to take yet another huge step out of the "HD closet": going on the radio with two other advocates to talk about the disease and our personal situations.

I consulted with my wife and weighed the potential impact of the interview on my family and job. After giving up so many dreams because of Huntington’s disease, my wife doesn’t want our family, including our 10-year-old, HD-free daughter, to deal with the disease until it’s absolutely necessary.

My wife pointed out my obsession after the Alnylam trip. But she didn’t want the rest of the family to become obsessed.

That night I had a very long and intense dream about HD involving my relationship with my daughter. In the dream, as in life, I wanted her to know the truth about HD. But I also wanted to protect and guide her.

I ultimately decided that the opportunity to speak out on HD was too important to pass up. There was no time to think through the consequences. I would deal with them, whatever they might be, as they arose.

In short, I would improvise – just as Petit improvised during the planning and execution of his walk between the Twin Towers.

So, on May 26, just hours after posting the Alnylam article, I participated in a half-hour interview on the Clear Channel radio network. I explained the symptoms of HD and my family’s struggle with the disease, including my exit from the HD closet. (Click here for more on the program and to listen to the podcast.)

So far, I have received feedback on the interview only from people in the HD community. But I am preparing myself for eventual questions and comments by others, including people at work, where only one trusted friend knows about my situation.

‘HD doesn’t have me’

As another good friend observed as we discussed HD and professional commitments, a very fine line exists between passion and obsession. Indeed, because of that fine line, it’s very easy to fall off the tightrope.

This same friend pointed out that I must avoid letting my quest for the cure compromise my health. “You can’t let the ‘cure’ kill you,” he said.

I later remembered how, in a similar situation, some Huntington’s disease caregivers become burned out or even die before their loved ones because they fail to rest or seek enjoyment.

As I walk the Huntington’s high wire, I am reminded of the sage phrase repeated by a number of HD people I’ve had contact with in recent years: “I have HD – but HD doesn’t have me!”

HD indeed had me for a while following my Alnylam trip and the radio interview.

But I won back control over the Memorial Day weekend. As we shopped with our daughter for items for a barbecue we were hosting for friends, my wife smiled and put her arm around me lovingly.

HD no longer had me. I was back in the fold.

S.O.S. for Huntington's disease families, and an important bill in Congress

2011-05-28T13:39:00.000-07:00

Huntington’s disease ravages the brains and bodies of its victims, usually leaving them utterly dependent on others. Whereas a child matures, an HD patient regresses.

As a result, HD families face enormous caregiving and financial burdens, ones that neither governmental agencies nor disease organizations yet adequately relieve. (A pending bill in Congress, as described below, could help significantly.)

From the time of my HD-stricken moster's apparent early symptoms in the late 1980s until her death in 2006, I watched her lose the ability to walk, converse, and eat.

Fortunately, my “HD warrior” father could care for her. Ten years her senior, he retired around the time that she began to need full-time care. She mainly sat at home, rode around with him in the car, ate with him at restaurants, and attended Sunday Mass. They did slow walks around the local indoor mall, first with Dad helping support her so that she wouldn’t fall, then with her using a walker, and finally with her in a wheelchair.

At home, Mom started to fall more frequently. Once she broke a wrist. Another time she hit her head on a piece of furniture, opening a gash that required five staples. In August 2005, we agreed to put her in a nursing home.

Until that point, my parents had gotten by financially on their modest retirement savings and Social Security.

They had enough money for several years of care at the nursing home, but the monthly nursing home bills of several thousand dollars began to rapidly deplete their savings. They would have to spend virtually every penny before she could qualify for Medicaid.

Her death cut short the need to seek public assistance. My father lived almost four more years, able to survive on his savings and Social Security.

Worries about the future

Now my family also faces potential financial difficulties.

In 1999, I tested positive for HD. Now, at 51, I have reached my mother’s age of disease onset. I am doing my best – via exercise, meditation, and supplements – to stave off symptoms. Still, when those symptoms inevitably start, I could lose my job, causing a dramatic drop in family income. Frugality has long been the name of the game in our home.

To prepare for the worst, in recent years we have built a Huntington’s disease “war chest” by saving between 15 and 20 percent of our income. Our daughter turns eleven next month, so we’ll also need to tap those funds for her college education.

Once I become symptomatic, we will have to apply for Social Security disability and Medicare benefits.

Inadequate nursing homes

Often I am painfully reminded of my family’s situation and the urgent need for financial and caregiving assistance for our HD families.

Recently, my fellow HD advocate Frances Saldaña of Fountain Valley, CA, unburdened herself to me about her family’s struggles.

Frances’s first husband died of HD, and her three children developed juvenile Huntington’s disease. Her youngest child, Marie, died in late 2009 at the age of 32.

Michael, 38, lives in a care facility in the infamous, crime-plagued Los Angeles neighborhood of Watts, far from Fountain Valley, which is in Orange County.

“It’s the only place that would take him,” Frances told me over the phone after we discussed advocacy for the Huntington’s Disease Parity Act of 2011, a bill in Congress that would make it easier for HD patients to obtain Social Security and Medicare benefits.

In Orange County, all of the care centers she approached refused to take in Michael because of their inability to work with HD patients.

“‘They require too much work, and we don’t have the staff,’” Frances explained, quoting the comments of care administrators about HD patients.

Frances says these facilities are violating the law by refusing to live up to the contracts they sign with the State of California, which prohibit discrimination against patients in facilities that receive Medi-Cal funds (the name for Medicaid in California).

To my knowledge, nobody in the HD community has had the time or expertise to seek redress from the state.

A family drained by HD

I met Frances’s oldest child Margie Hayes when the mother-daughter team advocated for HD stem-cell research at a meeting of the California state stem-cell agency in December 2007. Margie already had noticeable symptoms such as chorea (shaking and trembling), although she could still speak clearly. Everybody in the room was moved by their presentation.

Margie Hayes (right) speaks at California stem-cell meeting in 2007 as mother Frances Saldaña looks on (photo by Gene Veritas).

Now 41, Margie struggles with her worsening symptoms. For more than a year, Frances and other relatives have pooled resources to hire a private caregiver to watch over Margie eight hours per day. Because Margie is not her legal dependent, Frances cannot deduct her contribution on her tax returns.

“Her husband is so drained,” Frances said of Craig Hayes’ attempt to care for his wife at their home. “He doesn’t have the energy to do this anymore. He quit his job in Huntington Beach, which paid a lot more, so he could be close to Margie and the kids.”

Craig comes home at midday to give Margie her medications and feed her lunch.

“Not very many men would put up with this," Frances said. "She gets feisty and has behavioral issues when things don’t go her way."

Losing control

On one occasion, Craig had to hold Margie to prevent her from running out of the house, Frances told me.

“She’s totally disabled,” Frances continued. “She can’t talk anymore. She’s just mumbling. She can’t walk without anybody holding on to her. She has grimacing on her face. She refused a wheelchair.” The family must chop Margie’s food into small pieces so that she can safely swallow it.

In early April, Margie fell in the bathroom, slicing her skin open on a metal rail. She required 30 external and internal stitches. Yet, according to Frances, the emergency room personnel missed another laceration on the crown of Margie’s head. Only later, when the home caregiver was brushing Margie’s hair, did that cut become apparent. A crust of dried blood had formed, causing it to heal on its own. Luckily, Margie didn’t fracture her skull or have internal bleeding, Frances said.

The battle for Social Security

For years, Frances has championed the cause for improved facilities for HD patients in California, but to little avail. The family again faces the extremely difficult challenge of finding a care facility, this time for Margie.

Despite her advanced HD, Margie has not gotten Social Security disability payments. According to Frances, Craig became too overwhelmed to successfully complete the long and bureaucratic application process. Frances, too, feels overwhelmed and wishes she had more time to devote to the matter. Those funds would help defray the cost of Margie’s care.

She pointed out the need for the Huntington’s Disease Society of America (HDSA) to provide legal services for people in her situation.

After seeing three children devastated by HD, Frances is anxious about her grandchildren, who have not been tested.

“The clock is ticking,” she told me. “These kids are getting older. If they have the mutant protein, we still don’t have a treatment. The research has to move faster.

“I gave up on the care being there for my children about four or five years ago. My goal now is to make them comfortable. I hope to God that my grandchildren are not carrying it.”

Losing a home

James Valvano, a 39-year-old Florida patient with early symptoms, has received a doubly harsh dose of HD reality: he lost his business – and now his home. James has produced an important film on HD titled The Faceless Faces of Huntington’s Disease (click here to read more).

“My partner and I lost our home (of 14 years) and have moved in with my parents,” James wrote me a couple weeks ago. “Although something of this magnitude would normally ‘crush’ someone, we have decided to look at this in a positive light.

“Since my diagnosis in 2009, and the fact that I had to let my small business go, financial burdens continued to become overbearing.We will be fine, and I believe there is a reason for everything. I have to apologize for not getting back with you (let alone keeping in touch), however I became overwhelmed by life's curve-balls, and the simple fact that we were struggling to stay afloat."

James has tried to find the bright side. “The saving grace to all of this is the wonderful people within our … community, and my Film Team," he wrote. "I was not willing to let financial hardship destroy what we had worked on for two years ... nor was I going to let the anxiety and depression drown me.”

James Valvano (personal photo)

James receives Social Security disability income and, with the standard two-year waiting period about to expire, will also get Medicare benefits. (The above-mentioned HD Parity Act would eliminate that waiting period.) James’s partner was let go from his job at British Petroleum. For a number of months the couple tried to get by on just $1,000 a month.

“It came down to not having enough money to pay the mortgage, and the mortgage company would not work with us to refinance the house at its current value,” James continued. “We had a lawyer who was keeping them ‘at bay,’ but due to financial (constraints), we were unable to continue to pay him (the lawyer). So, we just decided to pick up and leave.”

Too big a hole to fill

In situations like those faced by Margie and James, HD families often have nowhere to turn.

“Why in this world is there no organization out there to financially set up or give help to HD families?” one woman lamented in an HD discussion group on Facebook.

In an interview on May 19, I put this question to Louise Vetter, the CEO of the Huntington’s Disease Society of America, based in New York City.

“The Board (of Trustees) has actually talked quite a bit about it, because it is something that I’ve heard from the day that I joined,” said Louise, now in her third year at the HDSA helm after nine years working for the American Lung Association. “Certainly the financial impact of HD is unique and particularly devastating.

“Unfortunately, it’s a hole that we just can’t fill, due to our (limited) resources and the overwhelming financial need. How would we choose that somebody’s rent is worth paying and somebody else’s isn’t? It really comes down to that. The board has struggled with this and felt that we cannot be a financial service organization at this time and still meet the other needs of our mission.”

HDSA’s annual budget is approximately $8.5 million, with roughly one quarter going for administration and fundraising and the rest for education, research, and the local Centers of Excellence for Family Services and Research.

The organization continues to rely mainly on affected families for its donations.

“There are a lot of smaller foundations that will provide support in specific communities,” Louise continued in reference to the dire needs of HD families. However, most national health non-profits do not provide such assistance.

May 31: HDSA’s call-in day to Congress

So, for now at least, HD families must depend on public assistance.

Louise pointed out that HDSA staff members can assist family members with questions about government benefits such as Social Security and Medicare. HDSA’s number is 800-345-HDSA (4372).

To help get benefits faster into families’ hands, HDSA and its many volunteer advocates in the field are making a big push to pass the HD Parity Act.

As of May 27, 2011, 67 members of the House of Representatives and four Senators had co-sponsored the Act.

In mid-May, HDSA announced the key support for the bill from Sen. Charles Schumer (D-NY), who is a member of the powerful Senate Committee on Finance and its Subcommittee on Social Security, Pensions, and Family Policy.

On Tuesday, May 31, HDSA is sponsoring a national call-in day. The organization requests that all HD families, friends, and supporters call uncommitted senators and representatives and urge them to co-sponsor the bill.

To learn more, click here. Also watch the interview on the bill that I conducted on May 19 with HDSA advocacy manager Jane Kogan.

HDSA's Jane Kogan: Time to Contact Congress on Huntington's Disease Parity Act from Gene Veritas on Vimeo.

S.O.S. HD

The call-in day is the HD community’s S.O.S. to Congress and the country. Families like the Valvanos and the Hayeses need our help. Because their burden is so huge, society needs to lend a hand.

Passage of the HD Parity Act of 2011 would provide a tremendous boost to HD families and the cause in general.

Remember: please call your representative and senators on May 31!

Holding the potential cure in my hand

2011-05-25T19:32:00.000-07:00

After telling yet another audience of scientists about my family’s two-decade struggle against Huntington’s disease, I held a potential cure for HD in my hand during a visit to Alnylam Pharmaceuticals in Cambridge, MA, on May 17.

For me, it was like holding the most valuable substance in the world. I inherited the HD-causing gene from my mother, who died of the disease in 2006 at the age of 68. At 51, I have now reached the age when HD started destroying my mother’s brain, erasing her personality, and leaving her unable to walk, talk, eat, or care for herself in the most basic way.

HD is 100 percent genetic: unless drug hunters get a treatment on the market in the next few years, I will get symptoms.

As I held what seemed like a magic compound, held in a small, securely capped plastic container, I smiled. A treatment – and maybe even a cure – now seemed more possible than ever. And Alnylam – along with its partners Medtronic and the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative – is indeed preparing intensively to start a clinical trial.

A shot of me holding the potential cure (photo by Dr. Mathias Kretschmer of Alnylam).

This was a historic moment. As I stood in the lab at the Alnylam (pronounced “al-NIGH-lam”) facility, I thought of all the years that our community of affected families and treatment-seeking researchers had waited for scientific breakthroughs.

I, the gene-positive HD person, caught a glimpse of a future filled with hope, even as I recognize that hope depends on further scientific breakthroughs and long odds. In the drug industry, 90 percent of clinical trials fail to produce a treatment.

ALN-HTT: white and flaky

“ALN-HTT” is the name Alnylam has given this candidate drug product, which is a solution containing the drug substance, the term scientists use for the active ingredient in drugs. It stands for “Alnylam” and “huntingtin,” the name of both the gene and protein that, when defective, cause HD.

The substance – an “siRNA,” or small interfering RNA molecule – is white and flaky.

ALN-HTT in the hands of Dr. Muru Murugaiah, an Alnylam principal scientist, in the company's lab (photo by Gene Veritas)

RNA interference (RNAi) was discovered in 1998 by Craig Mello and Andrew Fire in C. elegans, a species of worm. By interfering with the conversion of the genetic code into specific proteins, RNAi controls helps control the expression of genes and prevents problems from occurring in cells.

For their discovery, in 2006 Mello and Fire won the Nobel Prize in Physiology or Medicine.

At the outset, they and other scientists thought RNAi could not occur in mammals or humans.

Then, in the early 2000s, two teams of German scientists discovered that RNAi did indeed exist in cultured human cells (cells outside the body). In a presentation at the Dana Farber Cancer Institute this past January, Alnylam demonstrated that RNAi also exists in humans.

Gene silencing

This process is also known as “gene silencing.” RNAi can turn off practically any gene in the body. The discovery of RNAi virtually coincided with the completion of the Genome Project, which identified every gene in the human body.

Immediately, scientists embarked on making siRNAs to turn off harmful genes. Drug discovery companies in Europe and the United States sprung up to explore this breathtaking technology, seen by many as the genesis of a new, very large class of drugs for halting all kinds of disease.

Nobel laureate Phil Sharp started Alnylam in 2002. The company took its name from the middle star in the belt of the constellation Orion. “The star has a luminosity that is 250,000 greater than the sun, representative of the potential strength that RNAi therapeutics could bring to bear in human health,” the company states on its website.

No company has yet put an RNAi drug onto the market, but Alnylam is hoping to be the first. The company has a staff of about 175 and partners with large pharmaceuticals in the search for RNAi remedies. Last year Alnylam ended a five-year partnership with Swiss pharmaceutical giant Novartis, forcing Alnylam to lay off 25 employees, but Novartis continues to pursue drug possibilities using Alnylam experimental treatments. Alnylam has more than $300 million in cash to support its activities.

Alnylam research focuses on a range of diseases and conditions, including liver cancers, respiratory syncytial virus infection (affecting the lungs and breathing passages), ultra-high cholesterol, refractory anemia, and transthyretin-mediated amyloidosis. It also facilitates research on neglected tropical diseases. The company is working on five RNAi products for genetic diseases and aims to have them in advanced stages of clinical development by the end of 2015.

Aiming for a clinical trial

In 2005, Alnylam initiated a major Huntington’s disease research project, aiming not only to address HD but also to develop techniques that might prove useful against other neurological diseases. Because HD is 100 percent genetic, it provides an excellent test for the effectiveness of gene silencing.

Alnylam intends to use ALN-HTT to silence the huntingtin gene so that less huntingtin protein is produced to harm brain cells. If successful, the treatment would save brain cells from dying and slow down and possibly even reverse the course of Huntington’s disease.

Model of how siRNA drugs work: click to enlarge (Alnylam image)

A number of research labs have already demonstrated safety and effectiveness of this approach in transgenic mice that have HD-like symptoms. In preliminary studies, it’s also safe in monkeys.

The next step is a big one. Alnylam, Medtronic, and CHDI are preparing to apply in 2012 to the U.S. Food and Drug Administration (FDA) for permission to conduct a Phase I clinical trial of ALN-HTT in humans. Alnylam hopes to start the trial in a small number of HD patients once the application is accepted.

The goal of Phase I studies in general is to demonstrate safety and tolerability – that the drug does not cause adverse impacts. If successful, Alnylam would then proceed to Phases II and III, which would be designed to demonstrate the effectiveness of the drug.

Entering uncharted territory

This is all uncharted territory for the FDA, doctors, researchers, the biotech industry, and investors. Safety for the test subjects is of the utmost importance – but so is the need to find a treatment for those families facing the horrors of HD.

Getting ALN-HTT into the brain is a major scientific and medical challenge. Because of the blood-brain barrier, which protects the brain against foreign substances, many drugs cannot get into the brain. So a drug like ALN-HTT must be injected directly into the brain.

So, for the first time in history, doctors will attempt to treat a brain condition by implanting a device into the skull in order to inject a siRNA drug.

Doctors have already experimented with deep-brain stimulation by implanting electrodes into the brains of patients with Parkinson’s, epilepsy, dystonia, depression, and even HD, explained Dinah Sah, Ph.D., the head of the Alnylam HD team and Vice President of Research. The procedure has shown some benefit in Parkinson’s, but no known effect yet in HD.

Dr. Dinah Sah, Vice President of Research and the head of the Alnylam HD team (photo by Gene Veritas)

Recently a clinical trial demonstrated improvement in Parkinson’s patients who received gene therapy in which a virus was used to transport the genetic message into brain cells.

Physicians have also injected a cell growth stimulant (growth factor) into the brains of Parkinson’s patients. This last approach is still under study.

Alnylam has partnered with Medtronic, a leading maker of medicinal pumps, to devise a pump to be placed in the HD patients’ abdomens. Doctors will run thin tubing under the skin from the pumps to a nodule at the top of the patients’ heads, and from that point a very fine needle will run into the putamen, one of the regions of the brain most devastated by HD.

For all of this to happen, expert doctors in the procedure will conduct an operation on the clinical trial participants. Doctors will then administer ALN-HTT, which will be dissolved in a special solution, by filling the pump and allowing it to send the drug to the brain according to a schedule and in doses to be determined by the researchers.

Other possibilities

This is all just a very brief sketch of the Alnylam project. Soon I will be writing more detailed reports, which will examine how Alnylam and its partners developed ALN-HTT and hope to turn it into a successful drug to treat Huntington’s disease. These reports will also consider the many challenges involved in this quest for an siRNA treatment.

Remember, too, that Alnylam is not the only project seeking to control HD at its genetic roots. As I have noted in several articles since 2008, Isis Pharmaceuticals, Inc., of Carlsbad, CA, has devised a similar drug candidate to be applied directly in the brain (click here to read more). And Dr. Jan Nolta’s lab at the University of California, Davis, is experimenting with ways to use stem cells to introduce siRNA into the brain. For an overview of HD and gene silencing, see the excellent article by Dr. Jeff Carroll.

Isis and Alnylam operate a joint venture, Regulus Therapeutics, to research microRNAs, an even more recent discovery also involving RNA interference.

HD researchers aren’t banking on any one of these initiatives as the sole solution to HD. Although one of them could indeed turn out to be the “cure,” most researchers speak of the likely need for an HD “cocktail” of drugs that would stop or at least reduce the many harmful effects on the brain caused by HD.

Seeking patient input

To assist with the HD project, last November Alnylam signed an agreement with CHDI, a multi-million-dollar effort backed by an anonymous donor. CHDI is pumping money into the project and lending its expertise in Huntington’s disease.

The crucial CHDI collaboration will reinforce Alnylam’s efforts to design a safe Phase I trial.

To that end, Alnylam is also seeking to learn more about the patients and gene-positive people whom it hopes to benefit.

After watching my keynote speech at CHDI’s Sixth Annual HD Therapeutics Conference in Palm Springs, CA, on February 7, Dr. Sah invited me to give a similar presentation at the company. My May 17 visit inaugurated a new Alnylam initiative to involve patient advocates in order to put a human face on the conditions they seek to alleviate.

During the Q & A after the speech, attended by about 50 people, Alnylam executives and scientists were anxious to hear my opinion about several aspects of clinical trials.

The desire to function normally

One scientist wanted to know what people affected by HD community would consider to be a successful treatment. Obviously we all want a “cure” that completely eliminates the disease, I responded. But short of that, we need something that would at least allow us to continue to function normally. If someone suffered from chorea (the shaking and trembling caused by HD), a good drug would at least prevent that person from also losing the ability to think and speak.

We also need a drug that would prevent HD from erasing an individual’s personality by preventing the behavioral, emotional, and cognitive problems. HD, I said, had stolen my mother’s personhood.

One doctor asked: what if we fail and no treatment results from this experiment?

I responded that I recognized that failure is a part of science. You don’t know if something will work unless you try it, and if it fails, then you know it’s time to proceed to other alternatives.

However, I told the audience that I personally do not think about failure. The project must succeed! At that, many people nodded enthusiastically, and one of the executives said: “We agree with you!”

At that moment, I felt a special bond with everybody in the room. We were all rededicating ourselves to the quest for the cure – although everybody also recognized that failure remained a distinct possibility.

Avoiding hurdles, gaining speed

Afterwards I met with CEO John Maraganore, Ph.D., President and COO Barry Greene, Dr. Sah, Doug Macdonald, Ph.D., of CHDI, and Jules Greenwald, the development director for the Huntington’s Disease Society of America (HDSA). I took the opportunity to interview Maraganore and Greene.

Both stressed the need to prepare an effective Phase I application to the FDA and to convince the agency of the urgency of getting an siRNA treatment to HD patients.

“It’s important for us to have a dialogue, which includes patient advocates, with the FDA and other regulatory agencies, so that they appreciate the significant burden that the disease has on patients and their families,” Greene said.

“I think they know the disease, but they don’t really know the face of the disease,” Dr. Maraganore said.

Barry Greene (left), Gene Veritas, John Maraganore, and Dinah Sah

Much of the upcoming discussion with the FDA will revolve around the question of how fast Phase II and Phase III of the trial can go. If the FDA requires an extremely long efficacy study – from seven to ten years – the costs could become prohibitive and scare off funding sources, like investors, Greene explained. For patients and success, “speed really matters,” he said.

Another crucial question involves determining “endpoints.” In this case, an endpoint would be an observable change in a specific symptom and/or a change in the level of defective protein in the brain cells or some other marker of the drug’s effects (biomarkers).

Measuring huntingtin protein levels would likely prove the quickest endpoint, although it’s not clear if a lower level of huntingtin in humans will diminish symptoms the way it has in mice.

“We … want to have a testing approach that doesn’t create undue hurdles to the point where you actually make it so difficult to prove that something is maximally safe and maximally effective,” said Dr. Maraganore in summarizing the challenges. “So you want to have the right balance.

“The urgency? The need? I think you said it: You have more to lose now than ever,” he continued, referring to my race against time as I await a treatment. “That’s the level of urgency that needs to be put into this equation in terms of how these medicines are developed. That can only be said by a patient."

Hanging out with the scientists

My day at Alnylam was one of the most intense of my entire life. This article doesn’t even scratch the surface of what I experienced.

But Alnylam also planned some relaxation.

I enjoyed hanging out with the scientists at lunch and dinner, and I was impressed by their humanity and openness to new and different perspectives.

I had contemplated removing from my speech a mini-meditation exercise involving a demonstration of deep breathing, and also my discussion of the question of God, HD, and the Jesuit priest-scientist Teilhard de Chardin. But I was glad I didn’t. To my great surprise and joy, Sara Nochur, Ph.D., the Vice President for Regulatory Affairs, had read Teilhard’s works, and her husband had just completed a book on the topic of the link between science and the transcendental and also knew Teilhard’s writings. As we walked back in the rain to the office, Dr. Nochur and I compared notes on meditation and breathing as coping mechanisms.

At dinner Martin Goulet, Ph.D., who handles non-clinical experiments in the Alnylam lab, and I talked about our families. He has a girl about the same age as my HD-free ten-year-old daughter.

Dr. Martin Goulet (right) at work on the Alnylam HD project (photo by Gene Veritas)

Getting out the word on trials and the cause

Over the next few days, I excitedly told other people in the movement that I had held ALN-HTT in my hand. I felt like an apostle spreading news of a religious revelation.

My journey did not end at Alnylam. On May 18 I flew to New York City for meetings with other leaders of the HD movement. That day I visited CHDI headquarters in Manhattan, where communications director Simon Noble, Ph.D., and I discussed at length ways of getting out the word about the need for involvement in upcoming clinical trials.

On May 19, I spent most of the day at HDSA. I gave an informal talk to the staff about my situation and advocacy. I also interviewed CEO Louise Vetter, now in her third year at HDSA. In line with the theme of clinical trials, we discussed the HDSA Clinical Trial Ambassador program, which will utilize experienced members of the HD community to promote awareness about the trials and answer potential participants’ concerns.

On May 20, I traveled to Princeton, NJ, to interview scientists from CHDI’s clinical trials division.

The visit began with an informal brainstorming session at the home of Maria Beconi, Ph.D., the director for drug metabolism and pharmacokinetics (how drugs are absorbed, distributed, and excreted from the body).

After we consumed pizza, soft drinks, brownies, and cupcakes, Maria introduced me. I thanked the team for its commitment to HD research and explained that I was tracking the social history of the HD movement and the work of the scientists towards treatments and a cure.

I’ll be writing more about this issue and the CHDI unit in a future article.

In New York I met up twice with my friend and “HD alter ego,” Norman Oder, who edits this blog. We caught up on each other’s lives, and we discussed strategies for broadening the message of the HD cause.

Alnylam: passionate about HD

In 2008, when I first studied the Isis HD project, I fantasized about wearing a drug-injecting pump on my head. That was a somewhat inaccurate fantasy, because the pump would not be located on the head itself, but in the abdomen. Isis plans to use this kind of system. But even if it were located on the head, I would gladly use it – or any other device in any other location, for that matter.

Likewise, I would happily accept the implantation of an ALN-HTT pump in my abdomen. My need to avoid HD far outweighs any potential inconvenience caused by such devices.

I came away from Alnylam energized by its scientists’ seriousness, intelligence, practicality, and commitment to stopping HD. “We are very passionate about this disease and finding a cure for it,” Dr. Maraganore told me at the end of our interview.Dr. John Maraganore (Alnylam photo)

Dr. Maraganore told me that Alnylam will likely call on me again, as well as other patient advocates, to offer advice on the design of the clinical trial and to put a human face on the disease for the FDA.

Holding the cure is not enough

During the Q &A after my speech and the interview with Maraganore and Greene, I had an uneasy sensation in my gut. Alnylam’s scientists wanted not only to learn about my personal struggle against HD: they also wanted me to become involved in the strategizing for a clinical trial. I suddenly felt myself taking on a new, challenging, and immense responsibility in my HD advocacy. Though I have no training in science, I need to increase my knowledge of HD, the research for treatments, and the clinical trial process.

Dr. Maraganore observed that, as a result of Alnylam's new collaboration with CHDI, the company was "smarter about what we need to do" to get ALN-HTT into trials. "By being smarter, we're going to be faster," he added.

I, too, felt a bit smarter after meeting the Alnylam team. And I need to get even smarter as we all move together towards this potentially historic treatment.

Holding the potential cure in my hands is just the beginning. I must do my part to help get that cure into our patients and ultimately into me.

(Note: because Alnylam invited me to speak and visit its facility, the company paid for my round-trip airfare to the East Coast, my hotel in Cambridge, and meals related to the visit. I maintained the right to express my opinion in this and other articles on the HD project. )

The Huntington’s community rising and converging

2011-05-11T18:47:00.000-07:00

In the quest to end one of humanity’s cruelest conditions, the Huntington’s disease community is coalescing as never before.

As one individual commented on this blog last year, our community is "rising and converging."

We have traveled a long road.

Before the founding of the Huntington’s Disease Society of America (HDSA) in 1967, nobody advocated for the well-being of HD patients and their families. Huntington’s disease was shrouded in a combination of stigma and ignorance.

Today four organizations dedicate themselves to the cause: HDSA, the Hereditary Disease Foundation (HDF), the Huntington’s Disease Drug Works program (HDDW), and the CHDI Foundation, Inc., informally known as the “cure Huntington’s disease initiative.” They have brought great hope for treatments and a cure. Britain, Canada, and many other foreign countries also have important HD associations.

HDSA, solidarity, and the Web

Thanks especially to HDSA’s work over the decades, public awareness of this killer disease has increased, although HD is still far from being a household word.

HDSA has also promoted community solidarity, from the very first local support groups of the late 1960s to the organization’s 26^th national convention, scheduled for June 24-26 in Minneapolis, MN. In late 1995, after receiving the shocking news that my mother had HD, one of my first phone calls was to the local HDSA chapter. The chapter president compassionately explained the potential implications of my mother’s diagnosis for my own future and invited me to attend the support group.

With the power of scientific knowledge and the reach of the Internet, members of the HD community have strengthened their ties and promoted the cause. People today can learn instantly about the many aspects of Huntington’s disease from numerous informational websites, YouTube, and the portals of the primary HD organizations.

I frequently refer to Stanford University’s Hopes site, the Huntington’s Disease Advocacy Center, and HD Buzz. Communication also takes place through social networking sites and chat rooms. Thousands of people interested in HD belong to Facebook, where they can find support and information.

HDDW even conducted a clinical trial via the Web. I logged in regularly to perform cognitive tests on my computer keyboard. Because I am gene-positive for HD, HDDW founder Dr. LaVonne Goodman reviewed my performance to check for possible signs of symptoms. So far, I remain free of HD’s classic symptoms, although the scientific research indicates that the genetic defect most likely is already damaging my brain.

A chapter and a major stem-cell project

For many in the HD community, the lifeblood of the movement is their local HDSA chapter and support group. HDSA has more than 30 chapters and affiliates around the country, many tied to an HDSA Center of Excellence for Family Services and Research.

On May 6 and 7. I paid an emotion-filled visit to the Northern California Chapter (which includes Sacramento, San Francisco, and the northern part of the state) and observed a critical mass of HD-related activities.

On May 6, I spent the day interviewing Jan Nolta, Ph.D., and observing the work of the stem-cell research facility she directs, the Institute for Regenerative Cures, co-funded by the University of California, Davis (UCD), and the California Institute for Regenerative Medicine (CIRM). This 109,000 square-foot facility supports the work of 145 faculty researchers organized into 15 disease teams, including heart disease, blood disorders, HIV, Alzheimer’s, Parkinson’s, Lou Gehrig’s, and Huntington’s.

Dr. Nolta and her HD team have used a well-known type of stem cells, called “mesenchymal stem cells” (MSC), to develop two potential treatments for HD.

Dr. Nolta refers to the MSC as “paramedics” because of the way they congregate around and repair damaged cells. Injected into the brain of an HD patient, the MSC might be able to repair damaged neurons (brain cells) and restore the vital connections between them.

Dr. Nolta at the HD bench at the Institute for Regenerative Cures (photo by Gene Veritas)

Dr. Nolta and her HD team have also reengineered MSC to deliver small interfering RNA molecules directly into cells in order to stop the mutant huntingtin protein from causing damage. She has obtained a patent for this technology, hoping to later negotiate an agreement with a pharmaceutical company that would produce and market an MSC drug. If successful, this approach would stop the cause of HD at its genetic roots.

At the Institute for Regenerative Cures, I felt excited as I took a step into the future of medical treatments. I will provide a detailed report on the HD research efforts in a future article.

A record turnout

With nurse practitioner Teresa Tempkin as my guide, I also toured the HDSA Center of Excellence at the UC Davis Medical Center. I viewed the consultation rooms where Teresa, center director Dr. Vicki Wheelock, and a team of other physicians and healthcare specialists attend to the roughly two hundred HD patients living in the region.

By introducing Dr. Nolta to the HD community, Dr. Wheelock helped make HD research a priority of the Institute for Regenerative Cures.

Dr. Vicki Wheelock, director of the UC Davis Center for Excellence (photo by Gene Veritas).

In the evening, I dined at a Sacramento restaurant with Dr. Wheelock, Teresa, chapter president Judy Roberson, family services chair and former president Les Pue, and other participants in the annual Northern California Chapter convention, held the next day and coinciding with HD Awareness Month.

The chapter’s annual meetings date back to at least 1991. In 2000, the chapter upgraded them to convention status, now held at the UC Davis Medical Center campus. Starting in 2009, the chapter has received financial assistance from Lundbeck, a Denmark-based pharmaceutical firm that markets Xenazine (tetrabenazine), the first-ever FDA-approved drug for chorea, the shaking and trembling that occurs in many HD patients.

This year’s convention attracted a record number of attendees, with 197 official registrants and about eight or more other participants – yet another indication of the rising and convergence of the HD community. People from Lundbeck, Stanford Hopes, and other HD-related initiatives staffed information tables.

The audience at the 2011 HDSA Northern California Chapter convention (photo by Gene Veritas)

HD-free with PGD

The convention featured eight morning workshops divided into two sessions. All were compelling.

The first session I attended, “All About Preimplantation Genetic Diagnosis for HD Families,” was presented by Stacy Brookhyser, the gene-positive, 35-year-old mother of twins free from HD after she and her husband opted for the preimplantation procedure, known as PGD.

“When I started this journey, I was newly married, and at risk,” Stacy told the audience, which included her HD-stricken mother. “I hadn’t tested, and I didn’t know what to expect, but I knew about the at-risk status. I knew that if my husband and I went ahead had children naturally, that my children, of course, would have a chance of inheriting Huntington’s.”

The decisions about her HD test and PGD were “daunting,” Stacy added. During the rest of the presentation she recounted how they researched the various options for starting a family, considered their personal and moral beliefs, and went through the medical procedures necessary in PGD.

You can watch Stacy’s presentation in the video below, and you can learn more about PGD by visiting her website, www.HDFreeWithPGD.com.

All About Preimplantation Genetic Diagnosis for Huntington's Disease Families from Gene Veritas on Vimeo.

I was deeply moved by Stacy’s presentation. Listening to her, I was transported back to the harrowing moments that my wife and I experienced as we pondered our own extremely difficult decision (in late 1999 and early 2000) to have our child tested in the womb. This was before the availability of PGD. Our “miracle baby” tested negative.

I am glad that families today have access to PGD, although it continues to be a highly expensive procedure that is not always covered by insurance. Stacy’s PGD cost $30,000, with insurance picking up most of the cost. However, as she pointed out, that sum pales before the cost to the health system of caring for an individual with HD – not to mention the lost income and suffering experienced by the family.

Emotional and behavioral symptoms

I was anxious to attend the talk by psychiatrist Raheel Khan on “Dealing with Emotional and Behavioral Changes in HD.”

I have read on many occasions that these symptoms often appear first. My mother’s first apparent symptoms, including seemingly inexplicable mood swings and crying, fell into this category.

As a gene-positive individual, I wanted to know what might lie in my not-too-distant future. I want to prepare effectively by learning what to anticipate and how to help my family understand how they might need to assist.

Defining HD as a “classic ‘neuropsychiatric’ disorder,” Dr. Khan outlined the many conditions faced by HD patients, including depression, delirium, loss of interest in daily activities, apathy, anxiety, irritability, and many psychotic symptoms such as hallucinations, delusions, and disorganization.

Dr. Raheel Khan speaks on emotional and behavioral problems in HD (photo by Gene Veritas).

A depressing scenario

Dr. Khan spent a good part of the time on depression, which, he said, occurs in 30 to 50 percent of all HD patients. To paraphrase him, this is a very high percentage. When you have depression, it’s tougher to cope with the underlying disease. This worsens the course of the HD, so this aspect must be treated. Depression is insidious. The person rarely experiences their situation as a symptom. It’s up to the caregiver or family member to point out the changes to the patient.

Indeed, Dr. Khan made it very clear that assistance from family members and caregivers is crucial in dealing with this aspect of HD.

One caregiver in the audience wanted to know how to assist an affected loved one who refused to take psychiatric medication.

One solution is to pose the psychiatric condition as a part of the disease and tell the patient of the need for help, Dr. Khan responded. This, he added, was a very common problem.

“People still call me a shrink all the time,” he said, noting the stigma that still exists for psychiatric care. Unfortunately, he added, a person can’t be forced to see a psychiatrist. The psychiatric problems should be raised during a regular checkup, and the attending doctor should pointed out that he or she is the one visiting the patient, not the patient visiting the physician, Dr. Khan explained.

Just hearing about such a plethora of potential psychiatric symptoms – and writing about them again now – leaves me depressed. What if I suffer from some combination of these symptoms? What if I resist medication? I do not want to be a burden on my family. As sad and difficult as the task is, I must prepare my family for this scenario.

Connecting to HD people

With multiple emotions flowing after hearing Stacy and Dr. Khan, I wanted to end the threat of HD for my family and for everybody at the convention. Over lunch, I sat with three HD people and their families.

At the start of the afternoon session I watched chapter representatives present HD patient Cheri Harries with the Joseph P. Roberson Foundation’s “HD Person of the Year” award for her commitment to the chapter and her exemplary perseverance against the disease. She is the wife of chapter board member Terry Harries.

Accompanied by husband and board member Terry, Cheri Harries approaches podium to receive "HD Person of the Year" award (photo by Gene Veritas).

In our fight I felt connected to all of these individuals – and I wanted to do my part to win it.

‘It’s time to conquer HD!’

I got my chance to contribute as one of two featured speakers in the afternoon session, held in the main auditorium of the UC Davis MIND Institute. (MIND stands for “Medical Investigation of Neurodevelopmental Disorders,” such as autism.)

I titled my speech “A Gene-Positive Activist Copes with the Threat of Huntington’s Disease (Fighting Back).” As in my big coming-out keynote address at CHDI’s 6^th Annual HD Therapeutics Conference on February 7, I once again took off the mask of Gene Veritas to reveal my true self to the audience.

I spoke extemporaneously about my mother’s downfall, my father’s caregiving as an “HD warrior,” my advocacy for the cause, and, finally, pointers on effective activism.

I felt deeply connected to the standing-room-only audience. Many HD people and their families looked on, and people responded with great passion and enthusiasm. When I announced that our daughter had tested negative, the audience applauded. They applauded again when I recalled how I had removed the mask for the first time at the CHDI conference. Afterwards John, a shaking HD man in his 60s, hugged me several times like a long-lost brother.

You can watch my speech in the video below.

Gene Veritas: Fighting Back Against Huntington's Disease from Gene Veritas on Vimeo.

“And so what are we, as we take off our masks and become this new community?” I asked at the end of my speech. “We are a community rising and converging. We’re rising up for the first time. We’re fighting against discrimination. We’re getting tested. We’re advocating for bills. We’re doing new and wonderful things as we rise in this community. And as we rise, we are all converging together on the final point. And what is that final point?

“It’s time to conquer Huntington’s disease!”

Stopping the culprit

Doug Macdonald, Ph.D., CHDI’s director of drug discovery, closed the conference with a presentation titled “Huntingtin Suppression: An Exciting New Therapy Being Developed at CHDI.

Dr. Macdonald explained the efforts to reduce the actions of the defective huntingtin gene and its resultant, harmful protein, the culprit in HD.

Dr. Macdonald brought hope: Isis Pharmaceuticals, Inc., of Carlsbad, CA, and Alnylam Pharmaceuticals of Cambridge, MA, are both preparing to test potential huntingtin suppression drugs in humans within the next couple years.

Like Dr. Nolta’s approach, the Isis and Alnylam drugs would represent a revolutionary advance in the treatment of HD by attacking the genetic roots of the disease. Currently these approaches come the closest to a “cure,” although HD patients most likely would have to take such drugs their entire lives.

You can watch Dr. Macdonald’s presentation in the video below.

Stopping the culprit in Huntington's disease: talk by Dr. Doug Macdonald from Gene Veritas on Vimeo.

Inspiration

I came away deeply inspired by the HD movement in Northern California and reenergized in my advocacy. The annual conventions provide a fine model for other chapters and disease organizations, as does the powerful convergence of efforts by the Center of Excellence, stem-cell researchers, the HDSA chapter, Lundbeck, and the HD community.

I also felt gratitude for Lundbeck’s sponsoring of this event and the many other HD-related activities it has supported in recent years.

I’m looking forward to my next step: a speech at Alnylam on May 17 and interviews with the scientists on its HD team.

Inching towards our goal

At the end of the day, as we chewed the fat about HD matters and shared a bit of our life stories, Les Pue graciously drove me into San Francisco. There I met up with my wife and our child. Turning 11 next month, our daughter had crossed the Golden Gate Bridge earlier in the day for her Girl Scout “bridging ceremony,” which symbolizes a new level of commitment to the organization.

I was thrilled to see my family after such an intense weekend. Sitting with my wife at a restaurant on Fisherman’s Wharf, I thoroughly enjoyed eating clam chowder in a sourdough bread bowl and sipping a tall glass of Stella Artois draft beer.

The battle was not yet won, but I felt our community had inched a bit closer to our final goal.

Bin Laden and HD

2011-05-02T15:36:00.000-07:00

Most Americans will always remember exactly where they were during the 9/11 terrorist attacks.

And most of us will probably remember exactly what we were doing when word came of 9/11 mastermind Osama Bin Laden’s killing on May 1, 2011.

I was checking HD-related e-mail. “No bearing on HD… Thank God Osama Bin Laden is DEAD,” read a message from a member of the Facebook discussion group called “HD Family.”

I immediately jumped to CNN.com to confirm the report. I shouted the news to my wife in another room, where she was getting our 10-year-old daughter ready for bed.

“What a relief!” my wife and I told each other as I rushed to put the TV on CNN.

Riveted to the screen, we watched President Barack Obama’s announcement.

I could feel the two of us being transported back nearly a decade, when we spent so many evenings in that same room anxiously watching the television and worrying what other atrocities Bin Laden might perpetrate upon the nation.

A cause hampered

In fact, Bin Laden did have an enormous – if not always direct – bearing on many facets of American life – including the cause to eliminate Huntington’s disease.

In the economic boom of the 1990s, as scientists got their first inklings of possible treatments for HD in the wake of the discovery of the HD gene (1993), the cause started to build substantial momentum under the leadership of the Huntington’s Disease Society of America (HDSA) and the Hereditary Disease Foundation.

Even the tech stock crash of 2000 didn’t seem to threaten the promise of new research.

But Bin Laden’s attacks on the World Trade Center and the Pentagon struck at the heart of our financial and military might. And, as I feared, they diverted the national focus towards security issues and away from philanthropic activities and medical research, both crucial in the fight against HD.

Thus, like many Americans, I took the attacks personally. For the first time that I could remember, I cried for our country.

My worst fears

In June 1999, fewer than two years before 9/11, I had tested positive for HD. In January 2000 our daughter tested negative in the womb. So I was acutely aware of the threat posed by the defective huntingtin gene.

The 9/11 attacks seemed to dash all hope of a quick solution to HD.

I was angry at the Bin Laden terrorists for disrupting our lives and the promise of progress.

I felt especially forlorn about my own gene-positive status, because my mother, who had already been suffering from HD for at least a decade, was rapidly declining and could no longer talk.

As I told a friend at the time, my worst fears had come true: a cataclysmic event threatened to break the back of the nation, perhaps postponing the discovery of a treatment or cure to a date well beyond the start of my inevitable HD symptoms.

But, like the rest of the country, our local HDSA chapter somehow moved ahead, and we proceeded with our plans to raise awareness and funds.

On September 20, 2001, I volunteered at a fundraiser at a small amusement park that brought in $5,000 for HDSA-San Diego. I remember the strange mixture of emotions as I hustled around the park and worried about terrorism.

Exactly one month after 9/11, I attended our chapter’s very first Celebration of Hope Dinner. We raised almost $63,000 – about $10,000 more than our goal.

Generosity and terror

In December 2001, still caught up in the whirlwind of 9/11, I wrote an editorial for our chapter newsletter titled “Generosity and Terror”:

The most immediate concern is about funding. The attacks quickly focused Americans’ sympathies on the plight of the thousands of victims and their families. We mourn these horrible losses and support the efforts to bring the killers to justice.

The attacks also harmed our economy, and the outpouring of sympathy has diverted attention from many other charitable activities.

Government at all levels shifted its focus to dealing with the aftermath of the attacks and protecting the nation against future threats. We are at war. This all means that the government is spending – and will likely continue to spend for years to come – tens of billions of dollars for military defense and national security.

This combination of difficulties could undermine long-term philanthropic giving and reduce the level of activities of many charities and programs that fight disease.

But HDSA-SD supporters have suggested that the reality can and should be otherwise. Within weeks of the attacks they helped us raise tens of thousands of dollars. Other HDSA events went on as planned elsewhere. This is a resounding message that generosity and compassion will overcome the hateful politics of terror. The American spirit is to move ahead, no matter what the odds.

We thank those who have supported us during these difficult moments.

And we urge our leaders to remember that a great nation survives not only with a strong defense, but through the continuation of its programs for the betterment of human life. That includes funding for the National Institutes of Health and other initiatives against disease. In the campaign against terror we must not lose our public soul of domestic concern and generosity by overspending on weapons.

Strong health is our most basic prerequisite for survival as a nation. In the fight to stop disease, the test tube will topple terror, MDs will outlast murderers, and veneration of life will overcome the cynicism of violence.

Ups and downs of philanthropy

American charitable giving slumped from 2001 to 2003, but grew to record levels by 2007.

During the early 2000s downturn, HDSA also took a hit. Previous, ambitious plans for a $20 million annual budget fell by the wayside. Public advocacy languished. And, for a number of reasons, HDSA fell into financial disarray. Only now is financial stability in sight.

Under new leadership, HDSA is seeking to reconfigure itself as a community service organization for HD families. (May is Huntington’s Disease Awareness Month, and I’ll be writing soon on HDSA’s outlook.)

CHDI: a godsend

Meanwhile, in the past six years the CHDI Foundation, Inc. has invested heavily in potential treatments and a cure. Its budget will reach an estimated $100 million this year.

Informally known as the “cure Huntington’s disease initiative,” CHDI has been a godsend for the HD community. It is partnering with biotech companies, the government, and academic labs to speed up the hunt for effective drugs.

Thanks to a wealthy, anonymous donor, CHDI has kept spending at high levels despite the deep recession of 2007-2009, occasioned by a record drop in charitable giving that dwarfed the post-9/11 slump.

Thus, while in the short run Bin Laden’s attacks impacted the HD cause, in the long run the emergence of CHDI trumped terrorism.

In 2001 the 9/11 attacks had caused me to lose much of my hope for an effective treatment or cure. In 2011 I now have a level of hope previously unimaginable – in terms of the organizational and financial commitment to the cure and the research progress.

Unity and ingenuity

In his speech about Bin Laden’s killing, President Obama appealed for a renewal of national unity and reminded Americans that we “can do whatever we set our mind to.”

Listening to the president, I felt proud to be an American and rejoiced in his optimism about our future.

American ingenuity can bring about better care for our HD patients and their families and the treatments that I and tens of thousands of other gene-positive and HD-affected people so desperately need to stave of the devastation of our brains and eventual premature death.

On May 6, I will travel to Sacramento, CA, to interview a team of scientists working on a potential Huntington’s disease stem-cell treatment under the leadership of Dr. Jan Nolta. The next day I will deliver a speech on my experiences as a gene-positive HD activist at the annual convention of HDSA’s Northern California Chapter.

On May 17, I will give a similar speech at Alnylam Pharmaceuticals, which aims in the next year or so to begin Phase I clinical trials for a potentially revolutionary HD treatment.

HDSA, CHDI, Dr. Nolta, Alnylam, and so many other scientists could together change the history of Huntington’s disease and of science and medicine.

It took America ten years to get Bin Laden. With similar determination we can defeat Huntington’s disease in the next ten years.

The diary of a Huntington's disease activist

2011-04-25T20:54:00.000-07:00

In my previous blog post, I described my secret, second career as a Huntington’s disease activist.

Today I was off from work because of the Easter holiday, so I decided to catch up on a few of the most pressing tasks on my HD “to do” list.

Recently I’ve received questions from other members of the HD community about how to engage in or improve upon work in the cause. I hope that this blog article – which I am fashioning as a kind of diary entry – will provide some suggestions.

Also, next month is HD Awareness Month – an opportunity for everybody in our community to reflect on our roles in the cause. On May 7, I’ll be speaking on the topic of effective activism at the annual convention of the Northern California Chapter of the Huntington’s Disease Society of America (HDSA).

6-7 a.m.

After having gone to bed early (9:30 p.m.), I arose to prepare scrambled eggs for our “miracle baby,” who tested negative in the womb in January of 2000. She’s taking state achievement tests this week, and my wife and I want her to eat an extra good breakfast to help boost her performance. As my wife got her ready, I checked the first e-mails of the day from the HD Facebook discussion groups to which I belong, and did my morning stretch.

8 a.m.

I returned home after dropping my daughter off at school. With both my wife and daughter off to their activities and the house quiet, I performed my morning deep breathing exercises and mini-meditation.

This morning ritual helps me face yet another day of living at risk for HD while juggling job, family, and other responsibilities.

8:10-9:15 a.m.

I started thinking about tonight’s monthly HD support group meeting. I always come back from support group distraught at seeing people with HD and hearing others tell their sad and difficult stories of living at risk or experiencing the initial symptoms such as problems with driving.

I don’t want to go – but I must. I decided to go back to bed for some extra sleep – and to help my mind work through the fear so that I can function normally the rest of the day.

9:20-10:30 a.m.

I awoke after about an hour of sleep feeling less depressed.

I responded to some work and personal e-mails, and then turned to HD e-mail again. I exchanged several messages with the local special events coordinator for HDSA-San Diego about corporate sponsorship logos for our chapter website, which I oversee. These logos need updating to reflect new 2011 supporters of the cause here in San Diego.

I also made a few phone calls about Senate Bill 648, the Huntington’s Disease Parity Act of 2011. If passed, the law would make it easier for HD-affected individuals to obtain federal benefits.

I found out over the weekend that the sister of a very good friend is a staffer to Rep. Xavier Becerra (D-Los Angeles), a member of the powerful Committee on Ways and Means and the ranking member of the Ways and Means Subcommittee on Social Security. Rep. Becerra did not back the bill last year, when advocates obtained 153 co-sponsors in the House of Representatives. His support is crucial, and we need to get him on board. (Click here for a previous blog article on the bill.)

I recalled HD advocate Allan Rappoport’s sage advice: if you don’t know a representative or senator, ask five friends for help. At least one of them is bound to know an elected official or how to contact one.

10:30-10:45 a.m.

I phoned Jeri, a middle-aged woman who cares for her nephew Tony, who was stricken with HD in his early 20s. I want to write a blog article about care, using Jeri’s selfless dedication to Tony as an example. Completely disabled, Tony now lives at Edgemoor Hospital, a public facility where Jeri visits him each evening to help him eat dinner.

Jeri told me that Edgemoor was in the news because a 50-year-old non-HD patient, who was recovering from a car accident, allegedly bled to death because of hospital neglect (click here to read news coverage).

Later I sent the link about the article to the HDSA-San Diego board and support group facilitators.

Edgemoor personnel have cared for dozens of HD patients over the years, and I fear that I, too, may end up there if my family cannot care for me or afford to find proper assistance. I have visited Edgemoor on several occasions. The facility seems to have improved, but the news of neglect – and a $2 million legal payment from the County of San Diego to the dead man’s family – left me deeply worried about the fate of HD people there.

11 a.m.-noon

I drafted the letter below to Sen. Barbara Boxer (D-CA) about the HD Parity Act.

Dear Senator Boxer:

I urge you to join Senator Kirsten Gillibrand as a co-sponsor of S. 648, the Huntington’s Disease Parity Act of 2011.

One of the cruelest of conditions, Huntington’s disease destroyed my mother’s brain, leaving her unable to walk, talk, or swallow. HD is like a combination of Alzheimer’s and Parkinson’s, with psychiatric problems added to the mix. After more than 15 years battling the disease, my mother died in 2006 at the age of only 68.

I tested positive for HD in 1999. There is no treatment or cure, and I will very likely develop symptoms within a few years. I am 51.

This genetic killer strikes people like me in their prime, saddling our families with a huge caregiving burden and ruining their finances.

Individuals affected by HD qualify for Social Security Disability benefits and Medicare. However, bureaucracy and inaccurate information about the disease make it difficult for HD people to actually secure their benefits. Some are even denied those benefits.

S. 648 would enact two very important changes in the law.

First, it would require the Social Security Administration to update its decades-old, inaccurate disability criteria for HD.

Second, it would waive the two-year waiting period for patients to receive Medicare benefits, thus bringing assistance quicker to families in dire straits.

Passage of the HD Parity Act will bring immediate relief to HD-affected families. I have paid Social Security taxes all of my working life, and my wife and daughter will urgently need federal benefits when I can no longer help support them. Passage of the Act will provide at least some peace of mind for us as we fight as a family to deal with the devastating symptoms of Huntington’s disease.

12:20-1 p.m.

I started writing this entry.

1-1:30 p.m.

I ate lunch (tilapia, brown rice, roasted vegetables, olives, and yogurt) and took my midday dosage of my Huntington’s Disease Drug Works supplements (trehalose, Omega-3 fish oil pills, and Coenzyme Q-10).

1:30-1:55 p.m.

I normally take a “power nap” this time of day, but because I slept extra in the morning and need to work on this post, I skipped it in order to write.

1:55 p.m.

I got ready to pick up my daughter from school. I normally spend part of Monday afternoon at home with her as she reads or does homework, and at around 4 p.m. I drive her to her weekly piano lesson. Today we moved her lesson up to 3:15 so that I can prepare for tonight’s support group meeting. I usually leave around 5:30.

3:45

I read an e-mail noting the “lukewarm response” of California Senators Boxer and Dianne Feinstein to the HD Parity Act. We will have to redouble our efforts to get them behind the bill.

6-7:30 p.m.

I attended the support group meeting. Tonight the HDSA-San Diego board made its annual visit to the group to discuss chapter activities and the goal of national HDSA to strengthen ties to the grass roots, providing greater service for HD families. I was happy about the renewed commitment to care.

I also conversed with several HD people. Once again, I looked into the “genetic mirror” – my own probable future as a gene-positive individual.

Big goals – but little ones, too

As you can see, there’s no secret ingredient or spectacular formula for being a Huntington’s disease activist. Such work requires time, focus, and clear objectives.

It also requires a strong belief in the cause. Without commitment, it’s easy to be discouraged and give up.

I constantly keep in mind our overall goals of raising awareness, providing better care for HD-affected individuals and their families, and finding treatments and a cure.

However, along the way we must tackle the many small, intermediary tasks. When each one of us completes these tasks, together we build a movement – and make a difference.

That’s what today was all about for me.

The shadow career

2011-04-18T17:59:00.000-07:00

After my mother was diagnosed with Huntington’s disease in 1995, I joined the local support group of the Huntington’s Disease Society of America (HDSA). In 1998, I became a member of the HDSA-San Diego Board of Directors in the cause to raise awareness about HD and the need for treatments and a cure. After testing positive for HD in 1999, I intensified my efforts even further.

As I watched HD destroy Mom’s brain and worried about the inevitable onset of my own symptoms, my activism developed into a second career.

This was a secret career – one that I hid from everybody outside the HD community because of the very real possibility of genetic discrimination in the workplace, and in my field as a college professor and specialist in Brazilian history.

This has been my “shadow career.”

A bombshell

At the start of my first career, I had to keep HD in the back of my mind. I was striving to obtain tenure at my university job. This required complete dedication, with many 12-hour days, lost weekends, and weeks of forfeited vacation dedicated to research and publications, the gold standard of scholarly distinction and advancement.

In the first couple years, I felt completely exhausted, physically and emotionally. Getting tenure is like making partner at a law firm. The institution virtually owns you for the first six or seven years.

Then, just as things were starting to look a little brighter during my third year, I received a bombshell: my mother had HD, and I had a 50-50 chance of inheriting the condition. I could pass it on to the potential children my wife and I were contemplating.

That news transformed my life forever. Since that moment, the threat of HD and its many social implications (for marriage, family, insurance, health care, and income) severely impacted my career.

Focusing on the essentials

I first reacted to the emotional jolt by working even harder for professional success. I was 36, and I knew that I could start getting symptoms in my 40s. So I wanted to squeeze in as much life as possible – even to the point of neglecting my wife.

In June 1999 I tested positive. That was another huge blow. In January 2000, our daughter tested negative in the womb, a huge relief to my wife and me. She was born healthy in June 2000. (Click here to read more about these two genetic tests.)

Along with my decision to join the HDSA-San Diego board, those new, life-changing experiences forced me to change perspective about my career.

The birth of a first child brings most couples a deeper understanding of life’s meaning and responsibilities. The birth of our “miracle baby” especially moved me to focus on the essentials of life.

Sadly, Mom had already lost the ability to talk, and she couldn’t even properly hold our baby on her lap during my parents’ trips from Ohio to our home in San Diego.

As Huntington’s disease attacked Mom, I felt an urgency to get my own psyche in order to become a better father and husband in the potentially very short window of time of good health that remained. I worked extremely hard with my psychotherapist, my “mind coach,” to clear my mind of as much emotional clutter as possible.

Racing against time, I also wanted to multiply my efforts in the HD cause.

Hiding my activism

Juggling a new baby, household, job, and HD activism, I stopped going the extra mile at work.

Even with tenure in hand, this was highly risky. Office politics can often trump competence, as I learned in 2005 during my attempt to obtain a promotion.

So, while genetic discrimination remained my primary concern, I also hid my HD activism from my professional colleagues because I feared some might not sympathize with my predicament.

I have noticed, for instance, that as a man I am not expected to act as the primary caregiver for my daughter, whereas it’s considered perfectly natural for a woman to take on such a role.

In such an environment, I felt it would be extremely difficult for some co-workers to understand my commitment to the Huntington’s disease cause.

Until recently, I’ve kept a near-perfect firewall between my activism and my job. In that respect, the pen name “Gene Veritas” has lent me great protection.

Doubts and guilt

My shadow career looms large.

The extra hours I once spent on my paid job I now dedicate to the HD cause. I maintain professionalism in the workplace, but I no longer strive for the academic glory that can be achieved only with intense, ongoing dedication to intellectual matters.

Lately my secret career has cast a great shadow of guilt and doubt over my life.

In 2007, I had received an excellent job offer at another university, but I turned it down because of the very likely possibility that we will need to depend on my wife’s income when my HD symptoms begin. (Click here to read more.) She teaches in the public school system and, barring a fiscal meltdown, will receive a generous pension. So my wife and I have decided to make a stand in San Diego.

But the question rankles in my mind: what would my career have been like without HD? What new opportunities might our family have encountered had I been able to advance on a regular basis?

We are financial prisoners of HD. Long ago we abandoned our goal of a summer (and eventually retirement) home in Brazil, my wife’s country and where she could fully enjoy her home family and culture without having to rent as a short-term visitor or rely on relatives for lodging.

As my wife and I are constantly reminded, HD has robbed us of many dreams.

Public appearances

Recently I started taking my activism to an even higher level – and in public.

On February 7, I delivered the keynote address to the 6th Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative."

On May 7, I will speak at the convention of HDSA’s Northern California Chapter. And on May 17, I will make a presentation in Cambridge, MA, at Alnylam Pharmaceuticals, which hopes to bring a potentially revolutionary treatment into human clinical trials within the next year or so. At both events I will speak on the topic of my activism and coping with HD.

I will visit HDSA national headquarters a couple days later, and in June I am tentatively scheduled to appear as an HD community representative at a Huntington’s disease meeting at the National Institute of Neurological Disorders and Stroke (NINDS) in Washington, D.C.

Crashing in the fog

As I come out of the shadows, this second career could completely overshadows my regular job.

This huge transformation in my activism has preoccupied me now for more than a year.

The other day it left me so emotionally foggy that I became distracted while driving and accidentally crashed my brand new car (!) into a wall. I was okay, but the mishap caused $1,600 in damage to the vehicle.

Just a couple days later, I almost rear-ended another car as I drove down a familiar street.

In the case of several HD people I know, frequent, seemingly inexplicable car accidents or other driving difficulties were one of the first signs of symptoms.

Are my symptoms starting?

Or, as a friend pointed out, am I a “multi-processor” with much on my mind? (After all, I crashed a previous new car into a wall shortly after I received my HD test results. That was long before any symptoms were expected to occur, but I was unnerved.)

Part of the fog comes from the deep sadness I feel as my first career becomes less and less significant. And that causes the guilt about that career to increase.

No time for wavering

In Palm Springs, I spoke on the topic of “unmasking Gene Veritas” and reintegrating the two, until now separate parts of my life.

Since then, I have also have begun thinking of possible ways to integrate my two careers.

So much is on the line: my life, the lives of my wife and daughter, the lives of tens of thousands of HD-affected and at-risk individuals and their families.

As I completely abandon the shadows, I must resolutely overcome doubt and guilt. It is not a time for wavering. It is a time for conquering Huntington’s disease.

Let’s fix the law to help Huntington’s families

2011-04-13T13:35:00.001-07:00

Because Huntington’s disease leaves people unable to work or care for themselves, they can qualify for Social Security and Medicare benefits. However, as many in the HD community can affirm, government bureaucracy and widespread misunderstanding of the disease make it difficult to obtain those benefits.

The Huntington’s Disease Society of America (HDSA) and HD advocates around the country are working to push through legislation in the U.S. Congress that would finally bring relief from these problems.

The Huntington’s Disease Parity Act of 2011 (House Bill 718 and Senate Bill 648) would enact two major legal changes to help HD patients.

Correcting a gross inaccuracy

First, the legislation would require the Social Security Administration (SSA) to update its long-outdated and inaccurate disability criteria for HD.

The current SSA definition considers HD only as a movement disorder. The HD Parity Act takes into account two other main types of symptoms: cognitive loss (difficulties with memory and thinking) and behavioral or psychological problems.

“The designation of this disease by the Social Security Administration as ‘Huntington’s Chorea’ is both outdated and medically inaccurate, as this term fails to recognize the behavioral and cognitive impact of Huntington’s Disease, while also providing an incomplete characterization of the full spectrum of Huntington’s Disease for purposes of Social Security Disability Insurance and the Medicare program,” the text of the bill states. (Click here for the full text of the bill.)

The term “chorea” refers to the shaking and dance-like movements suffered by many – but not all – HD patients.

Secondly, the bill would waive the two-year waiting period for patients to receive Medicare benefits, thus bringing assistance quicker to families in dire straits because of the disease’s severe impact on household finances.

How families struggle

Misty Oto, a board member for the San Diego chapter of HDSA and a leading advocate of the bill, witnessed the travails of her HD-stricken mother, brother, and aunt as they struggled to obtain benefits.

Her brother’s symptoms had caused him to miss SSA appointments, misplace paperwork, and write illegibly on his application for benefits, according to Misty. Finally, with the help of Reps. Bob Filner (D-San Diego) and Brian Bilbray (R-San Diego), the SSA reviewed the application. (Filner and Bilbray were the original co-sponsors of the bill in 2009.)

However, because of the 24-month waiting period, he died before obtaining actual benefits.

Below, you can watch the complete interview I conducted with Misty on April 8.

Gene Veritas interviews Huntington's disease advocate Misty Oto on HD Parity Act from Gene Veritas on Vimeo.

The 'Let’s Talk about HD' campaign

In its 2010 edition the HD Parity Act gained a total of 152 co-sponsors in the House of Representatives. But the bill stood no chance of passage because of the lack of a companion bill in the Senate.

The situation improved dramatically on March 17, when Sen. Kirsten Gillibrand (D-NY) introduced S. 648.

Working at the grassroots, HDSA and advocates of the bill are now seeking to drum up support in the House and especially the Senate in order to bring the legislation up for a vote.

In May, Huntington’s Disease Awareness Month, HDSA will promote the legislation by launching a “Let’s Talk About HD” campaign.

Each week HDSA will focus on a different call to action related to the bill, and on May 31 it will sponsor a national call-in day to Congress. You can watch an HD Awareness Month video by clicking here.

Aggressive advocacy needed

Allan Rappoport, a former HDSA-San Diego board member who has helped HDSA strategize on passage of the bill, stressed that the HD community needs to unite to achieve success.

“It’s not up to your Congressman to learn about HD,” Allan told me. “It’s not up to your Congressman to push that bill through. It’s not up to your Congressman to care, because your Congressman and your Senator have got thousands and thousands of people and issues that they’re dealing with.

“It’s up to the constituents, us in the HD community, to educate them, to keep after them…. And they’re not irritated by that…. They expect and they want you to be aggressive. They need you to tell them that this is important.”

To learn more about the background to the bill and how people can best lobby their Representatives and Senators, watch the full interview with Allan below.

Gene Veritas interviews Huntington's disease advocate Allan Rappoport on HD Parity Act from Gene Veritas on Vimeo.

Please act now

So far, only the Lou Gehrig’s disease community has obtained a waiver of the two-year Medicare waiting period for people afflicted by that condition, also known as amyotrophic lateral sclerosis.

Passage of the HD Parity Act is crucial for the HD community. Not only will it remedy a difficult situation for HD families. It could also inspire other disease communities to seek similar improvements in their benefits situation.

The campaign for the bill also will raise the profile of HD in the Congress and the public arena.

So please write, call, or e-mail your Representatives and Senators today, and ask your extended family, friends, and acquaintances to do so, too.

To learn more about the bill, visit the advocacy webpages of HDSA and HDSA-San Diego.

(HDSA is also sponsoring a Caregiver’s Corner webinar on Social Security Disability Insurance appeals and denials at 1 p.m. EDT on April 27. For more information, please click here).