‘Twas the morning after Christmas – and Huntington’s disease hit us like a ton of bricks

I dedicate this article to the repose of the brave souls who have lost the fight against Huntington’s disease.

Twenty years ago this holiday season, my wife Regina and I received news that changed our lives forever: my mother Carol Serbin had been diagnosed with Huntington’s disease, and I had a 50-50 chance of having inherited the genetic defect that caused the deadly disorder.

It happened the morning after Christmas 1995.

As I took stock of that year and looked forward to 1996, I felt calm and accomplished and, despite my habitual caution, even swaggered a bit. I was savoring that extra-special, carefree holiday feeling of the college professor: finals were over, grades were in, and I had a month off.

I felt immensely privileged. In addition to winter and summer breaks devoted to reading and relaxation, my position afforded me annual trips to pursue historical research in the country that had become my second home: Brazil. I felt confident as I neared the half-way mark to tenure, which would provide me job security.

In five days, on December 31, I would turn 36. Regina, who was 29, and I had purchased a condo near the university. It was just a few minutes’ drive from the beach in San Diego, a city with spectacular scenery and perhaps the world’s best climate.

My achievements gave my parents great pride and vicarious fulfillment. My father Paul had moved our family from Cleveland to Anaheim in June 1966, but, two weeks later, missing home and regretful that we kids would grow up far from our doting grandparents, packed up everything and moved us back. Regina and I now could live the California dream he had pined for. She and I talked of starting a family and saving for a vacation home in Rio de Janeiro, where she grew up.

At around midday, everything suddenly changed.  In a phone call with my sister in Cleveland, I received the greatest shock of my life: my mother had HD.

Paul and Carol Serbin around the time of her diagnosis with Huntington's disease (above, family photo) and a decade later as the disease ravaged her mind and body (below, photo by Gene Veritas, aka Kenneth P. Serbin)

We had never heard of Huntington’s disease. According to my mother’s doctors, the disease was untreatable, inexorably destroying her brain. It was causing her to shake uncontrollably – and to lose her mind.

Learning that I had a 50-50 chance of carrying the bad gene instantly put all of our hopes and dreams on hold.

Would we be able to start a family? Could we still buy that condo in Rio? In bed one night shortly thereafter, as I became gripped with fear, Regina held me tightly.

Kenneth and Regina Serbin after his dissertation defense, University of California, San Diego, 1992 (family photo)

Still symptom-free

Each year since, Christmas has brought a sorrowful reminder of my mother’s diagnosis – and of the risk I face. After much personal reflection and discussion with Regina, I got tested for HD in 1999, and unfortunately learned I was a carrier of the defective gene.

Through more than 200 articles in this blog since 2005, I have told the story of my family’s battle, chronicled the scientific movement to defeat HD, and explored the challenges of individuals, families, and society coping with this vexing, tragic disease.

As the 20th anniversary of our initiation into HD approaches, I recognize how fortunate I am to have remained free of the classic symptoms. This month I turn 56, an age when my mother faced the triad of HD problems: chorea (uncontrollable movements), cognitive difficulties, and emotional and behavioral disorders.

As I watched her decline and ultimately die of HD in 2006, after nearly two decades of suffering, I never imagined that I would reach this stage symptom-free. At my recent, annual visit to my neurologist, she found no signs of the disease.

I have much to be thankful for. I savor every moment like a sip of fine wine.

Regina, an educator, just obtained her administrative certificate, which qualifies her to shift from teaching to a job as principal. Our beloved daughter Bianca, who tested negative in the womb, will not develop juvenile Huntington’s. She’s a hard-working high school student, choral singer, and field hockey player.

Still able to pursue my professional passions, I am writing a book on ex-revolutionaries in power in Brazil and advocating with the rest of the HD community for better care and the discovery of effective treatments.

The Serbin Family 2015 Holiday card (family photos)

A lonely holiday

However, I know that I am not in the clear. Because I carry the bad gene, I will develop HD.

As an advocate, each day I share in the suffering of other families hit with Huntington’s.

This Christmas season, as I celebrate my family’s accomplishments, it’s lonely without my parents.

Because of HD, my mother could never really hold baby Bianca. HD took Carol’s life when she was just 68, robbing her of the opportunity to watch Bianca grow into a young woman.

I can’t share with my mom the success and many happy moments that she desired for me.

I also miss my father, the “HD warrior” who cared for Carol daily for more than a decade as her symptoms worsened and died with a broken heart three years after her death, in 2009.

Awaiting the gift of a cure

In 1995 we were so young, full of plans and hopes!

Huntington’s disease took away our innocence. In those first months after learning of my mother’s diagnosis, I began for the first time to comprehend mortality and the preciousness of time.

Because of HD, life became something very different from what I imagined it might be.

As I look back on the past 20 years, however, I recognize that for many, with or without HD, a smooth path cannot be predicted. And I recognize that life has brought me many good things.

Unlike my mother, who had no inkling that HD was ravaging her brain, I have had the chance to build a strategy to avoid onset and plan for the many social implications of the disease.

While my mother developed HD before the gene was even discovered in 1993, I live at a time when historic clinical trials might turn HD into a disease that can be managed like diabetes and other conditions.

This Christmas, as I commemorate the birth of Christ, I am thankful that my parents gave me the gift of life.

I look forward to a future holiday season when Huntington’s disease families can rejoice in a cure.

Merry Christmas and Happy Holidays!

Gene Veritas at the San Diego shore (family photo)

Riding the advocacy revolution: stem cell activists, the future of CIRM, and public awareness

If the promise of stem cells to treat a myriad of diseases – a potential outlined in my first of two reports on the sixth World Stem Cell Summit – is to be fulfilled, advocates and patient organizations must exercise effort and expertise in helping steer the research.

Starting with AIDS-related patient advocacy, a “revolution” has occurred over the past two decades in how patients have related to their doctors and the pharmaceutical industry, said Kevin McCormack, the senior director of Public Communications and Patient Advocate Outreach for the California Institute for Regenerative Medicine (CIRM). CIRM was one of the leading co-sponsors of the summit, held last month in San Diego.

“This is a really exciting time and really interesting time in medicine,” McCormack said, introducing a panel on patient advocacy and stem cell research on December 5. “There’s a lot of change going on. Part of it is due to all the advances that have been taking place, all the progress that is being made in many different fields, but obviously in stem cells in particular. That’s why we’re here.

“There’s also a change in the way we’re engaged. In the past it was a very paternalistic system, for want of a better word, where you went to the doctor, and the doctor said, ‘This is what you have,’ and then the doctor said, ‘This is how we’re going to treat you.’”

Now, said McCormack, that has changed. “Patients and patient advocates are really demanding more of a role, more of a voice, beginning with HIV-AIDS, where people just didn’t want to wait around ... to get the therapies,” he said. “And so they pushed and advocated and demanded in every part of the decision-making process.”

Beyond the key issue of Huntington’s disease advocacy, this article also addresses the future of the world-leading, public-bond-supported CIRM and the need for greater public education about the stem cell field, including safety concerns.

Show up, get involved

Judy Roberson, RN, one of California’s leading HD activists, led off the above-mentioned panel with a simple but crucial tenet of advocacy: “Show up for things. Show up for meetings like this. Join support groups and national organizations…. When you get involved, opportunities come your way.”

Such opportunities become available because major “decision-makers” usually attend scientific meetings such as the Huntington’s Study Group conference she keynoted in 2009, Roberson pointed out.

As a result, Roberson, then the president of the Northern California Chapter of the Huntington’s Disease Society of America (HDSA) and head of the Joseph P. Roberson Foundation (founded by and named for her HD-stricken brother-in-law), was invited by the Food and Drug Administration (FDA) to become an FDA HD advocate. The FDA oversees clinical trials for drugs and approves treatments. Roberson’s husband Tim died of HD at the age of 51.

“You’ll never get anything unless you ask for it,” Roberson continued, recounting how in the early 1990s she approached her neighbor, California State Senator Mike Thompson, to seek support for Huntington’s programs. Thompson, who headed the legislature’s powerful budget committee, helped allocate $1 million for HD programs over a period of five years. Thompson now serves in the U.S. Congress.

More recently, Roberson and other California HD advocates worked to help Drs. Vicki Wheelock and Jan Nolta of the University of California, Davis, secure a $19 million grant to conduct research towards a stem cell trial for HD, as mentioned in my previous article on the summit and detailed in a 2012 article.

You can watch the Stem Cell Summit advocacy panel, including Roberson’s speech, in the video below.

How Patients and Patient Organizations Are Impacting Advances in Stem Cell Research and Regenerative Medicine from Gene Veritas on Vimeo.

An eye-opening experience

For Katie Jackson, also of Sacramento and the vice president for Help4HD-International, a newly emerging patient and family support organization, the summit opened up a new world. Jackson’s husband was diagnosed with HD in 2006. The couple has two untested children with a 50-50 chance of inheriting the HD mutation.

“This summit has been so eye-opening and so amazing,” Jackson told me in an interview on December 5. “I thank the California Institute for Regenerative Medicine for sending me here….  From the second you wake up in the morning till the second you go to bed, you’re amongst these innovator-researchers that are just changing the world.”

Jackson said she was excited to be “part of the medicine that’s today, and that is regenerative medicine…. People are starting to understand that this is important stuff.”

The Stem Cell Summit left Jackson with a feeling of great hope, she said.

“There are a lot of people that are working hard to find therapies and possibly the cure,” she said. “Hopefully this is the last generation of Huntington’s disease.”

You can watch the entirety of our interview in the video below.

Huntington' Disease Advocate Katie Jackson at the World Stem Cell Summit: An Interview with Gene Veritas from Gene Veritas on Vimeo.

The center of the stem cell universe

As stated by outgoing CIRM President Dr. Alan Trounson in his keynote speech on December 4, numerous CIRM-supported projects are putting the drive towards stem cell treatments into “high gear.”

According to Jonathan Thomas, the chair of the Independent Citizens’ Oversight Committee (ICOC), CIRM’s governing board, the agency is currently funding research regarding 40 incurable diseases and conditions. That research is part of projects funded at 70 different California universities, research institutions, and biotech companies.

Critically, these efforts aim to get potential therapies into human clinical trials, the final, crucial step before the FDA can approve a drug.

CIRM, approved in a 2004 statewide vote on Proposition 71, has so far spent $1.85 billion of its mandated $3 billion budget, funded by state-issued bonds.

California was already “loaded” with research talent, Thomas observed in a CIRM public forum on December 3, “but the fact that CIRM is here has enabled the state to attract senior stem cell scientists from all over the world just to have the opportunity to get funded for their work.”

Thanks to CIRM, California has become “the center of the stem cell universe” and the “envy of the rest of the world because of what the voters have enabled us to do,” Thomas continued.

“No other state has been able to duplicate this,” he said. “There are smaller efforts that are funded either by annual appropriations by state legislatures or largely funded through philanthropic gifts or whatever. No place has the bonding authority we do.”

Keeping the research pipeline open

CIRM will fund its final round of projects by 2017. Actual administration of the grants will extend to about 2021, McCormack said.

“But obviously the key question here is: what about funding the research that’s already in the pipeline, about the kind of exciting progress that we’ve made that we don’t want to see wither and die, because if we go away, who’s going to fund it?” he said.

McCormack explained that continued support for the early and middle stages of a project enables the researchers to avoid the so-called “valley of death” – a lack of funds preventing the scientists from approaching large drug companies to promote the idea of the large, expensive, and sometimes lengthy Phase III clinical trials, the final stage before FDA approval.

“We’re looking at a number of different ways of getting new money – private funding, philanthropy, a number of different choices that we’ll be exploring,” McCormack said. “We’re not ready to go public yet with some of the things we’re looking at, but hopefully we’ll be able to find some way of continuing this research.”

“I hope with all my heart that we can go for a part 2 of Proposition 71,” said panel member Don Reed, a leader in the 2004 effort, who became active in the cause because of his son Roman’s paralysis resulting from a college football accident in 1994. “It’s going to be the greatest stem cell battle in the history of the world, and if we win, there’s just going to be unbelievable stuff that will happen…. Support it. Send letters to the editor. Fight every we you can.”

Roberson noted that Prop 71 originator Bob Klein’s comments at the Stem Cell Summit included plans for an “advocate boot camp” in support of CIRM. Klein served as the first chair of the ICOC from 2004-2011.

Panel member Alex Richmond, an advocate for treatment of children’s neurological disorders and the executive director of Children’s Neurobiological Solutions, observed that, as a public agency, CIRM cannot advocate for its own existence. “So it puts more pressure on organizations like ours and individuals like you, individual scientists that are out there, to be really as good an advocate as they can,” he said.

Public education critical

Researchers speaking at the CIRM public forum and presenting projects at the Stem Cell Summit both emphasized the need for greater public understanding of stem cell science.

In addition to reports on specific diseases such as Parkinson’s, AIDS, and cancer, the public forum provided easily understandable introductions to stem cell basics, focusing on such themes as adult stem cells, pluripotent stem cells (which can become any kind of cell type), and cell replacement therapy.

You can watch videos of all the public forum presentations, as well as a number of other panels and presentations of the summit, by visiting my 2013 World Stem Cell Summit video album, to which I've just added twelve more presentations.

To promote stem cell education, two researchers presented a poster titled “Developing an Easy-to-Understand Booklet for the General Public to Discuss Issues in Stem Cell Research.” Authored by Keiko Sato, Ph.D., and researcher Mie Samura of Kyoto University, Japan, the project seeks to correct misinformation and misunderstanding about the field.

“Misleading information released by the media is a routine problem for stem cell research stakeholders,” they stated on their poster, which refers to Japan but can be applied to the U.S. and other cultures. They cited the examples of embryonic stem cells, reported in some media outlets as being “created by destroying fertilized eggs intended to become babies.”

The book will appear in Japanese and also online in English.

Dr. Keiko Sato (right) and researcher Mie Samura at their poster about stem cell education (photo by Gene Veritas)

Their poster also warned about the “hype” surrounding unproven stem cell treatments, sometimes leading to “unexpected side effects” in patients who try them.

“Thus, the current situation has the potential to undermine the relations of mutual trust between researchers and the general public about stem cell research,” the authors wrote.

The poster “Stem Cell Clinics and the Internet,” by Dr. Ruairi Connolly and two collaborators from the National University of Ireland, further underscored the dangers of unproven treatments offered by online clinics.

“Despite a lack of appropriate accreditation, (such) clinics report major clinical improvements and the curative potential of treatment,” they wrote. “The provision of stem cell therapies in such an unregulated online environment is jeopardising the development of this nascent branch of medicine and offers a substantial risk to both the health of patients availing of these treatments and to the credibility of long term research in this domain.”

Dr. Ruairi Connolly with poster about unaccredited, online stem cell clinics (photo by Gene Veritas)

(Disclaimer: I received a stem cell summit scholarship from CIRM, which covered the cost of registration. CIRM officials did not in any way influence or control what I have written here.)

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.)