In late 1995, after I received the shocking news that my mother had Huntington’s disease, I decided to fight back for her by learning all that I could about this incurable disorder and also advocating for treatments and a cure.
Then, after testing positive for the HD gene in 1999, I sought to save myself by finding ways to stimulate my brain in order to stave off the inevitable neurological symptoms.
As I worked to maintain my health, my HD activism grew into a full, second career parallel to my professional work, and complicating my life as a husband and father.
Two views, two necessities
“Keep striving,” a close friend wrote recently after reading one of the articles in this blog, which, for seven years, has served as a chronicle of both my advocacy and strategies for avoiding HD and, in and of itself, has provided an escape valve for my frequent anxiety about the onset of symptoms (click here to read more).
I am living a very complex paradox. I must strive, but as I do, I also must avoid allowing my activism to exhaust me physically and emotionally.
As I wrote last year, I walk an HD tightrope that requires me to very judiciously balance all aspects of my life. One slip, and I could fall off the wire and plunge to disaster.
The past year has proved exhilarating but also psychologically trying, beginning with a major coming-out speech before world-renowned HD scientists last February and ending with wrenching articles about HD and suicide, abortion, and the deaths of two girls from juvenile HD.
“You need to chill more,” another close friend of 32 years has counseled me repeatedly throughout my journey with HD.
He recommends that I “chill” as an antidote to the striving. He recommends spending less time on work, writing, and the HD movement and more on the simple, relaxing things that I could enjoy: good food and wine, books, movies, conversation with friends, walks with the dog – or just plain doing nothing.
To strive or to chill? That’s the question I face each day.
The rhythm of life
In a memorable sermon during my college years, the pastor of St. Thomas More Chapel at Yale, Father Richard Russell, spoke of the need to “get into the rhythm of life.”
As an HD activist, I especially feel that need. When I achieve that rhythm, my existence feels like the alternating phases of the heart’s cycle – pumping and relaxing over and over again.
Over the past day, that’s exactly how I’ve approached HD and the rest of my life.
This past Saturday afternoon, my wife, our 11-year-old daughter, and I took an hour-long walk in the San Diego beach community of Pacific Beach. Couples and families like us strolled, while more adventurous people on bikes or roller skates weaved in and out. The 70-degree sun bathed us all. We dined on Greek fare at our favorite restaurant, followed by frozen yogurt.
Late at night I worked on this article. This weekend, I had consciously chosen not to write on a difficult topic. I wanted to “chill.”
While I wrote, I couldn’t forget how during the previous night I chatted on Facebook for an hour, trying to help a person recently shocked by the revelation of HD in her large, extended family.
Last night I turned off the computer without finishing the article. I read for a while before turning in.
This morning, I walked door-to-door with my daughter as she sold Girl Scout cookies in the neighborhood.
What a great feeling! Watching her take charge of the sales, I recognized how much more mature and confident she has become.
I forgot not only about HD, but all my other cares.
Now, after lunch, I sit again at the computer, contemplating how I must stay in the rhythm and find the right balance between striving and chilling.
Enjoying the ride
It’s nerve-wracking to wait and wonder when and how the individual symptoms will start, especially because, at 52, I have reached the age at which my mother had already developed symptoms.
I sometimes become impatient about the rate of progress towards treatments and a potential cure.
Sometimes my fear provokes megalomaniacal thoughts about striving against HD, as if I’m a lone knight battling a fire-breathing dragon.
Then I remind myself that I cannot singlehandedly defeat this disease.
We all must get into the rhythm together: patients, asymptomatic gene-positive individuals like me, caregivers, physicians, and researchers.
And we all need to take a break from striving in order to chill.
As one of my California HD Facebook friends likes to say: when matters get rough, “go surfing!”
I don’t surf, but the thought of the power, immensity, and majesty of the ocean brings home the point: I control only a very small part of my destiny, and I might as well enjoy my ride on earth.
Sunday, January 29, 2012
Monday, January 23, 2012
Advocacy pays off: Huntington’s disease stem-cell research advances in California
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.)
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.)
Tuesday, January 17, 2012
Let’s turn grief for ‘HD Angels’ into new impetus for the Huntington’s cure
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.
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.
Sunday, January 08, 2012
Seven years of striving for a realistic and unapologetic view of Huntington’s disease
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.
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.
Monday, January 02, 2012
Striving for brave new brains
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.
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.
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