Ten years out of the terrible and lonely Huntington’s disease closet, as new research and investments offer hope for treatments

 

Ten years ago this month, I exited the “terrible and lonely Huntington’s disease closet” by publishing an essay on my plight and advocacy as an HD gene carrier in The Chronicle of Higher Education.

 

Fortunately, asymptomatic as I near 63, I continue to teach, research the history of the HD cause, and enjoy family milestones such as my gene-negative daughter Bianca’s graduation from college and my wife Regina’s and my 30th anniversary celebration – events that I feared HD would prevent me from appreciating.

 

As we approach Thanksgiving, my favorite holiday, I feel a profound gratitude to my family, friends, and colleagues at work and in the HD cause.

 

So I want to reflect on my journey since exiting the closet. I also want to report on new paths of research that could offer hope for what we in the HD community (and beyond) desperately await: effective therapies (treatments).

 

Becoming a more effective – and convincing – advocate

 

I started this blog in January 2005 under the pseudonym Gene Veritas. Having told my family’s story using my real name (Kenneth P. Serbin) in a widely read publication has enabled me to become a more effective – and convincing – advocate. I could now speak with full transparency about HD, provide an example for others still hiding in the closet, and build new partners in the fight to raise awareness and funds.

 

Before exiting the closet, I was sheepish about fundraising and other aspects of my advocacy, restricting my efforts to relatives and close friends who knew about my family’s struggles. After my exit, I became more self-assured.

 

In 2013, the Serbin Family Team in the annual Hope Walk of the Huntington’s Disease Society of America (HDSA) became the top fundraiser nationwide, taking in more than $16,000 in donations from dozens of generous supporters.

 

Collaborating with work colleagues

 

I most feared the consequences of revealing my story at my workplace, the University of San Diego (USD), because of concerns about discrimination. I knew HD gene carriers had been fired by their employers. My USD colleagues were shocked by my revelation.

 

However, those colleagues ultimately showed great solidarity. By advocating about HD at work, I attracted new allies, boosted awareness, and served as a bridge to resources for those facing HD (click here to read more).

 

My advocacy reached a milestone in May 2017, when I traveled with my family to Rome to help represent the U.S. HD community at HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America. My trip was sponsored by several USD units, including the Frances G. Harpst Center for Catholic Thought and Culture, directed by Jeffrey Burns, Ph.D. Later that year, the center hosted a talk by me exploring the social, scientific, and religious meaning of this extraordinary the papal event.

 

Francis became the first world leader to recognize HD, declaring that it should be “hidden no more.”

 

 

Business card of Kenneth P. Serbin (aka Gene Veritas) shared at scientific conferences and with anyone interested in learning about the HD cause (photo by Gene Veritas)

 

In early 2020, before the coronavirus pandemic exploded in the U.S., Dr. Burns and I collaborated in a screening at USD of the short documentary Dancing at the Vatican, which features HDdennomore. In late 2020 I helped promote the launch of the film online.

 

This year, I fulfilled one of the long-term goals outlined in my 2012 coming-out essay: shifting my academic focus from my beloved Brazil to the history of the quest for HD therapies.

 

With support from USD and The Griffin Foundation, I submitted the project for funding to the National Science Foundation. Although I was not granted funding initially, the foundation’s program officers encouraged me to reapply.

 

PTC’s helpful infusion of new capital

 

We all anxiously await effective therapies. Over the past ten years, I have increased my attention to the intensification of the efforts by labs and biopharma companies to achieve success.

 

The last several years of such efforts have felt like an emotional roller coaster for the HD community, though that’s not unusual for a difficult endeavor like drug development, which involves both positive and negative clinical trial results and cumulative learning.

 

Last month, I reported on the abrupt shutdown of the firm Triplet Therapeutics, Inc., which had explored a much-awaited proposed therapy. I also noted that the U.S. Food and Drug Administration (FDA) had requested that PTC Therapeutics, Inc., provide further information before allowing a clinical trial of its HD drug, PTC518.

 

But there was also potential good news.

 

Despite the FDA-imposed delay in a U.S. trial, PTC has reached a financing deal with the investment firm Blackstone, based on PTC’s plans to expand its drug pipelines to other diseases. The deal, which in the best-case scenario could infuse $1 billion of investment, puts “PTC in a strong position to continue to execute our mission,” Emily Hill, PTC’s chief financial officer, stated in an October 27 press release.

 

PTC518, a so-called splicing molecule, is also classified as a small molecule drug. It is thus taken as a pill – in contrast with riskier, less convenient delivery methods used by other HD programs, which include brain surgery and spinal injections. Early next year, PTC will furnish an update on the PTC518 trial. The trial continues in several European countries and Australia.

 

Roche diversifies its approach

 

In March 2021, Roche reported disappointing news: its gene silencing drug tominersen (an antisense oligonucleotide, or ASO) failed to improve symptoms in volunteers in the firm’s GENERATION HD1 Phase 3 (large-scale testing of effectiveness and safety) trial. This September, Roche announced GENERATION HD2, a less ambitious, Phase 2 (effectiveness, dosage, and safety) retesting of tominersen to start in early 2023.

 

In its presentation of GENERATION HD2 at the annual Huntington Study Group annual meeting in Tampa, FL, on November 3, Roche revealed that it has expanded its pursuit of HD therapies by embarking on two preclinical (nonhuman) projects.

 

Whereas tominersen targeted both the normal and abnormal (expanded) huntingtin gene, Roche will now seek to develop a drug that aims at just the abnormal gene. (Wave Life Sciences already reported in September that it had successfully targeted the abnormal gene in an early stage clinical trial, although yet without evidence of impacting symptoms.)

 

Like PTC’s program, Roche’s second preclinical program will aim at developing a splice modifier that would be taken orally.

 

“The medical need in the HD community is clear and we recognize that a range of different therapeutic approaches are likely to be required,” Mai-Lise Nguyen, of Roche’s Global Patient Partnership, Rare Diseases, wrote me in a November 3 e-mail.

 

 

A slide from the Roche presentation at the 2022 Huntington Study Group meeting illustrating the firm's three approaches to attacking Huntington's disease (slide courtesy of Roche)

 

Another ten years?

 

After the major disappointment in the shutdown of Triplet, I was heartened to learn of Blackstone’s massive investment in PTC, which indicates that both firms see PTC’s potential treatments as viable and profitable.

 

I was also encouraged to see how Roche, in the words of its Huntington Study Group presentation (see photo below), has augmented its HD research portfolio, reflecting a “commitment to advance scientific understanding and drug development in HD through continued collaborations” with HD organizations.

 

With the ingenuity of HD scientists and the dedication of HD family members to participation in research, the march towards potential therapies continues. I hope to chronicle continuing progress over the coming years not only free of the “HD closet,” but, thanks to new therapies, free of significant HD impacts, as well.

 

A slide from the Roche presentation demonstrating the commitment and collaborations involved in the quest for HD therapies (slide courtesy of Roche)

Engaging a ‘scared population’ of Huntington’s disease families by respecting their journeys

The number of clinical trials for Huntington’s disease treatments has increased exponentially, pushing up the demand for volunteers. Now advocates ask a pressing question: how to inspire more affected families and individuals to participate?

I have addressed this theme with increased frequency in recent years, as in my last two articles (click here and here to read more). As a carrier of the devastating HD mutation who saw his mother succumb to the disease, I feel in my gut the urgency to involve other members of the community.

“If no patients or gene-positive people show up for trial participation there will be no novel treatments, ever!” Daniel P. van Kammen, M.D., Ph.D., wrote in an e-mail in response to my articles.

For several years, I have maintained a dialogue on this topic with Dr. van Kammen, from 2007-2011 the chief medical officer for CHDI Foundation, Inc., the nonprofit virtual biotech focused exclusively on developing HD treatments. A professor emeritus at the University of Pittsburgh, Dr. van Kammen currently serves as an independent consultant for central nervous system (CNS) clinical trial development.

“The notion that if you build it they will show up, just does not work!” Dr. van Kammen continued. “In general only 5% of people diagnostically eligible for drug development study participation, do so. This is fine for a large population with Alzheimer’s. Not for the HD community either at risk or diagnosed. So people have to come forward.”

As he indicated, there’s a relatively small number of HD-affected individuals, estimated at 30,000 in the U.S. By contrast, as many as 5 million Americans over age 65 may have Alzheimer’s.

Beyond that, a good number of HD-affected individuals cannot participate in clinical trials because of so-called exclusion/inclusion criteria. (I’ll write about this issue more in a future article.) So that leaves an even smaller number of potential trial subjects.

The Enroll-HD program, the global platform, research project, and family registry aimed at facilitating clinical trials and the discovery of treatments, recently marked its 5,000th registrant but needs as many as 25,000 more volunteers.

People deciding at their own pace

Over my nearly two decades of advocacy – my mother was diagnosed in 1995 – I have learned that it’s important to respect the unique journey of each individual touched by HD. Without that respect, we cannot begin to engage what Dr. van Kammen described as a “scared population.”

From a pure research standpoint, the more at-risk people who test for the HD gene, the better. Despite the enormous psychological burden of knowing that I will develop HD, I don’t regret undergoing genetic testing.

I often wish that more individuals from the untested at-risk pool – the vast majority of those people don’t  get tested – would also test and/or participate in programs such as Enroll-HD, which doesn't require that people learn their genetic status.

But then I remember how I wanted to get tested immediately after learning of my mother’s diagnosis. I postponed the decision after receiving advice regarding the discriminatory consequences of testing, and, more than three years later, bit the genetic bullet because my wife and I wanted to know my status before starting a family. Six months later our daughter tested negative for HD in the womb.

What a journey!

When I meet people new to HD, I am aware that I can offer ample advice based on experience. However, I stick to the basics, allowing them to ask questions and share their stories and fears at their own pace. I remind myself that testing for HD is often an extremely trying process, with implications for the extended family. This personal decision requires time and reflection.

People new to HD are embarking on their own journeys based on their backgrounds and particular point in life.

The same respectful approach applies in encouraging people to attend a support group, visit the local HD clinic, participate in fundraising activities, and enrolling in studies and clinical trials.

The dynamics can be complex. In the face of HD, many families close ranks. However, many split, beset by fear, denial, and the stigma of HD.

Activists’ self-respect

I have received enormous respect from my fellow HD advocates.

We activists must always remember to respect our own journeys.

At 55, I have passed the age of my mother’s HD onset. Each day without symptoms is a gift.

To maintain self-respect, I must allay guilt about doing too little for the cause. I especially feel this way when missing a support group meeting or a local event of the Huntington’s Disease Society of America (HDSA).

Lately I have also faced advocacy fatigue. However, seeing other, often less fortunate families suffer from HD – like the young man holding his HD-stricken grandmother or the family with members stricken by both adult-onset HD and juvenile HD – leads me to gird myself again for the fight. On April 11, at an HDSA educational event at the William W. Backus Hospital in Norwich, CT, I will share my story and the hope offered by the upcoming gene-silencing clinical trial planned by Isis Pharmaceuticals, Inc., and Roche.

In re-engaging, I remind myself that my journey is unique, too, with my own particular moments and needs.

Enjoying the present, planning the future

Twenty years into the cause and ever closer to disease onset, I need to focus on my health, enjoying life, and my family.

With a sabbatical from teaching duties, I am also writing a long-gestating book on Brazilian politics that I had partially put aside because of my work as departmental chair the past five and a half years and my developing interest in the history of science, technology, and medicine.

As our daughter approaches college age and my wife and I initiate conversations about retirement plans, we are also focusing on shoring up the family finances. As all HD families know, losing a working family member to the disease not only severely reduces family income but also creates a caregiving burden very costly in both time and money.

Luckily neither of lost our jobs in the Great Recession, but like many Americans in the eroding middle class we have received little or no increase in income during the recovery.

At 55, I also face the normal challenges of aging. Over the past eight months I have struggled with a nagging elbow pain that has prevented me from swimming, my preferred exercise and excellent for cardiovascular and brain health. Luckily, with my doctor’s okay, I am back swimming, although the pain continues. Because of pain elsewhere in the body, I have spent many an hour at physical and occupational therapy sessions.

I want to remain as limber as possible to facilitate coping with HD symptoms (more on this in a future article).

I also continue to exercise my mind. As I wrote to an old friend regarding the recent tenth anniversary of this blog and its 200th article, “Writing for survival is my motto.”

Affirming the good in our lives

Like many others in the HD community, my journey has deepened my search for spiritual meaning.

I have added another book to my morning meditation, Gratitude Works!, a book about gratitude journaling by Robert A. Emmons.

Writing regularly about the positive experiences in our lives promotes a shift in awareness from “what we are lacking to the abundance that surrounds us,” Emmons writes.

“Gratitude leads us to affirm and acknowledge the good things in our lives,” he adds.

Our community has immense suffering, but is also has immense good.

I am grateful for remaining asymptomatic today, for the many people bravely struggling to come to terms with HD, and for the great respect the members of the HD community have for each other as we live our unique moments together.

I’ll be even more grateful when more people enroll in clinical trials. Yes, we may be a “scared population.” But we may also be a “sacred population,” one dedicated to a deeper purpose, helping to conquer this awful disease.

Fighting – and writing – to stay healthy: ten years of 'At Risk for Huntington’s Disease'

Ten years ago today, I launched this blog to explore the depths of living at risk for Huntington’s disease and to unburden myself of the fear of its inevitable symptoms.

Frankly, I did not expect to still be writing at 55.

At that age, my mother had developed chorea (the involuntary movements associated with HD) and was experiencing serious emotional and cognitive symptoms that would soon prevent her from speaking and caring for herself. This year marks the sad 20^th anniversary of her official diagnosis. She died of HD in February 2006 at the age of 68.

I tested positive for the HD genetic mutation in 1999.

I strongly believe that my work on this blog – research, reflection, writing, advocacy, and networking – has helped me delay my own HD onset.

I cannot scientifically prove this, but evidence strongly suggests that mental stimuli and other forms of enrichment can positively affect the course of this disease and other neurodegenerative conditions.

Researchers have told me privately that they believe my mental activity has helped keep me stable. “Keep doing what you’re doing,” they say.

Gene Veritas with his tenth anniversary blog posting (photo by Gene Veritas)

Launching the blog

Life can be an emotional roller coaster. HD families ride the tallest and most twisted one, with HD gene carriers like me facing a terrifying descent into symptoms.

Starting in 2001, I wrote and edited Conquest, the tri-annual newsletter of the San Diego Chapter of the Huntington’s Disease Society of America. However, while revealing the stories of many HD-affected individuals and their families in Conquest, I never wrote about my own family’s plight.

I started At Risk at the urging of Norman Oder, a fellow Yale University graduate and colleague at the Yale Daily News.

As a young journalist in the 1980s, Norman by chance wrote an article about a New York area HD family. After we reconnected years later, he edited some of my Conquest articles. Coincidentally one told the story of that same family, part of which had moved to California.

In the early 2000s Norman and I brainstormed about how to increase media coverage of HD, including my own story, as a way to strengthen the cause and attract potential donors.

With that goal in mind, I initiated the blog to address the many complex issues faced by presymptomatic mutation carriers like me as well as untested at-risk individuals.

I didn’t realize at the time how much it would help me sort out my thoughts, engage with others in the HD community, and nudge HD activism. In February 2011, I examined this blog as an advocacy tool during my keynote of the Sixth Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc. In June 2011 I was named HDSA’s Person of the Year, an honor I never could have achieved without this forum. “I know, too, that this award is not just for me,” I wrote, “but for everybody affected by HD: the at-risk, the gene-positive, the symptomatic, the families, and the unsung heroes of America, the caregivers.”

From the start, Norman has applied his editing skills to virtually every article, almost always sending back revisions within a few hours. He has also suggested a number of topics and pushed me toward rigor when it’s tempting to just hope.

Norman is my “HD alter ego,” and a great friend.

(Later in 2005, Norman began his own long-running blog, a daily account of Brooklyn’s most controversial real-estate project, now called Atlantic Yards/Pacific Park Report.)

A stalwart supporter of my activism, my wife Regina has reflected with me on the content of numerous articles. Our daughter Bianca has witnessed me writing and posting articles. Now a teenager, she has a record she can consult of her grandmother’s demise and her father’s writing and coping strategies.

Explicitly and implicitly, Regina and Bianca permeate the pages of this blog. More than anything else, their presence and love motivate me to fight HD and to improve as a husband, father, and human being.

Gene Veritas (left, aka Kenneth Serbin), Norman Oder, and Regina Serbin (photo by Bianca Serbin)

Bringing hope

In that first year (2005), I wrote 17 articles. However, over the next three years I could only write 18 articles. I was distraught over the death of my mother from HD. I even acted out HD symptoms.

During those first four years, I focused primarily on my family’s struggles to care for my mother and how living with the gene affected my feelings and life.

With the help of my psychotherapist and a more effective set of medications for depression and anxiety, I started to turn the corner in late 2007.

In late 2007 I also wrote my first blog article about the potential of stem cell research for finding HD treatments. Along with other southern California advocates, I set up the very first presentations about Huntington’s disease before the state’s stem cell agency.

From that point on, the hope for treatments buoyed me emotionally and became a frequent theme of At Risk for Huntington’s Disease.

Expanding the research updates that I wrote for Conquest, I started doing on-the-scene reporting and in-depth interviews with researchers. In April 2008, I visited Isis Pharmaceuticals, Inc., in nearby Carlsbad, CA, to produce an article on the company’s ambitious efforts to stop HD very close to its genetic roots.

This year Isis will conduct the long-awaited Phase I clinical trial to test its potential gene-silencing drug.

Broad coverage

The blog expanded to cover many of the difficult issues impinging on the HD community, including abortion; advocacy for a congressional bill to update the government’s disability criteria for HD;  the difficult discussions young at-risk people face during dating; and the challenges of finding adequate nursing home care for HD patients.

“I really absolutely admire your bravery in exposing this disease in a realistic and unapologetic way,” wrote Stella, another HD blogger, in a comment on one of my articles. Such comments help keep me going.

Writing the blog helped me think through the process of going public about my HD status after nearly 15 years of advocating anonymously and seven years of blogging under the pseudonym “Gene Veritas,” which I maintain as a symbol of our community’s fight for the cure.

Now, as I meld my HD advocacy with the career of Kenneth P. Serbin the professional historian, I have come to view the blog as a primary historical document of the “new and harrowing human experience of living in the gray zone between a genetic test result and onset of a disease.”

An emotional vent

Above all, the blog is an emotional vent.

With you, my readers, I can share my feelings about facing a terrible, currently untreatable disease, build forces to defeat the profound stigma surrounding HD, and bolster advocacy to improve care and seek the cure.

Through At Risk for Huntington’s Disease – and the HD community I have reached on Facebook – I have gained many new brothers and sisters determined to survive HD and passionate about the noble aim of bettering humanity by solving a major medical and scientific puzzle.

Often, producing articles for the blog envelops me for hours and sometimes days as I research, travel, photograph, shoot video, write, revise, and post, and then engage with readers via e-mail and social media.

Sometimes I go to bed too late – not good for someone at risk for a disease that disturbs the body’s natural rhythms.

As I prepare to post an article, I experience a torrent of emotion, followed by a deep sense of relief.

The memories of twenty years of dealing with HD come flooding back, but in the end I have hope.

Awaiting effective treatments

This article is posting number 197 in At Risk for Huntington’s Disease.

I am grateful that very soon I will be able to post number 200.

Tonight I will raise a glass to the blog.

I know it’s still a long shot because of the inevitability of HD symptoms, but I want to remain healthy long enough to write the article celebrating the discovery of a treatment so effective that I can stop worrying about HD and retire the blog.

One year out of the terrible, lonely Huntington’s disease closet

Today marks one year since I definitively exited the terrible and lonely Huntington’s disease closet.

On November 4, 2012, my article “Racing Against the Genetic Clock” appeared online in the The Chronicle of Higher Education, the first time I shared my story in a mainstream publication (click here to read the article). It was also published in the November 9, 2012 print edition.

By revealing publicly that Gene Veritas was Professor Kenneth P. Serbin, a historian who specializes in Brazil, I took one of the most important steps in my 15-plus years of HD advocacy.

I no longer hid the potentially devastating truth about my genes: I carry the mutation for Huntington’s and will inevitably develop its deadly symptoms.

After guarding the secret of my risk for HD ever since my mother’s diagnosis in late 1995, I could fully engage in the battle against, as I wrote, “the stigma and fear surrounding Huntington’s and other neurological disorders. In so doing, I also hope to help galvanize increased support for brain research.”

I also could finally begin to integrate my academic career with my HD advocacy and my growing, profound interest in the history of science, technology, and medicine.

Gene Veritas (aka Kenneth P. Serbin) (photo by Bianca Serbin)

Big strides

Over the past year, I have made important strides in my advocacy.

With the publication of my family’s story, many people within my circle of friends and professional colleagues learned in detail about the challenges posed by orphan and genetic diseases, not just the symptoms but the serious social implications.

For the first time, I publicly raised funds for the cause, bringing in more than $16,000 to the Serbin Family Team at the April 14 Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA).

At the University of San Diego (USD), my employer, I spoke openly about Huntington’s disease. Through colleagues I even learned of other families in the area facing the risk of HD. (Click here to read the feature story on me and my family on the university’s website.)

In the spring, I participated in the first meeting of faculty members aiming to establish an undergraduate concentration in medical ethics. I’ve also discussed HD and genetic testing with a USD biologist studying the ethical dilemmas raised by genetic practices.

The highlight of my academic work this year took place at the World Congress on Huntington’s Disease from September 15-18 in Rio de Janeiro, Brazil. I gave a presentation on coping with HD. I also reported on the event and posted more than 30 videos I had shot. In São Paulo, on September 21, I delivered a speech on HD and bioethics.

As I wrote, “I felt vindicated in my decision to go fully public about HD … and meld my professional and personal lives with my advocacy.”

Concern about health care

On October 16, as the U.S. Congress voted to end the two-week government shutdown resulting from Tea Party Republicans’ attempt to block Obamacare, I published a blog article describing how I had revealed my gene-carrier status to my health plan.

At the suggestion of one of the leaders of the HD movement, I sent a copy of my article to Speaker of the House John Boehner, who has dueled politically with President Barack Obama over the Affordable Care Act.

“I am dismayed at how the national debate over health care has taken an unhealthy and highly unproductive turn,” I wrote to Boehner. “Having seen my mother succumb to Huntington’s disease, and facing the threat of that disease myself, I have witnessed firsthand, and experienced, the terrible drama of our inadequate system of care for people with neurological and other disorders that carry a large stigma…. Please do your utmost to bring better care for all Americans and create a more productive national dialogue.” (So far I haven’t gotten a response.)

On October 20, the Brazilian newspaper O Estado de S. Paulo published a Portuguese-language opinion piece by me discussing my message to Boehner and the embarrassing behavior of the U.S. political leadership. I wrote that citizens like me were anxious to see the country get back on track with its economy and health care system.

A scholar-advocate

Last night, I spoke to a good friend and long-time professional colleague who provided frequent support over the past two-and-a-half years as I prepared to make my definitive exit from the HD closet.

“Tomorrow is the first anniversary of my article in the Chronicle,” I told him.

“Are you glad you did it?” he asked.

“Of course!” I responded.

“And the sky didn’t fall!” he rejoined.

Indeed, the days of the terrible and lonely HD closet are now in my past.

The memories, however, are still fresh. And when the nation debates health care as it did again recently during the shutdown, I fear a return to that painful period of my life in which I felt compelled to hide the threat of HD.

I also know that thousands of HD families around the world remain in the HD closet – because of lack of knowledge about the disease, stigma, fear, and the devastating symptoms.

I now refer to myself as a “scholar-advocate.”

Very soon I plan to even better integrate my identity, setting up an e-mail signature with both my real name and pseudonym and links to HDSA, my blog, and my Chronicle article.

With this new dual public identity, I will forge ahead as I seek to promote collaboration in the HD community, greater awareness about the disease and its many challenges, and an end to the fear of sharing our stories.

The end of fear and exclusion: informing my health insurance plan about the risk of Huntington’s disease

In my nearly two-decade journey with Huntington’s disease, I hid my at-risk status not just from nearly all but my closest confidantes, but also from my health plan.

My warily guarded secret exemplifies the deep-seated fears many in the HD community have about denial or loss of insurance coverage. I regularly read or hear about untested at-risk individuals or gene carriers who worry about this issue.

To protect myself from losing coverage in the event of a job change or another of life’s unforeseen challenges, I instead have relied all these years on the Huntington’s disease clinic at the University of California, San Diego (UCSD) hospital. There I have paid out of my own pocket for consultations and established a medical record completely separate from all my other health records.

As a university professor, I have enjoyed the benefits of group coverage, from which it is at least theoretically more difficult to exclude people who have genetic and/or pre-existing conditions. Nevertheless, I have always erred on the side of absolute security, never knowing what life might bring, especially in the period before I obtained tenure and therefore had some but not total job security.

Over the past two months, however, I have initiated the process of informing my health maintenance organization (HMO) that I carry the mutation for HD.

“This is all so ironic!” I said the other day to my wife Regina, the very first person I had told about HD after learning the day after Christmas 1995 of my mother’s diagnosis and my own risk for inheriting the mutation. “I’m now doing what I've avoided all these years.”

Fearing exclusion, I had not resorted to the very system supposedly designed to help me.

Feeling liberated – again

Once again – as I did in definitively exiting the terrible and lonely “HD closet” on November 4 of last year – I feel liberated.

I began to apprise my HMO of HD on August 9 with a visit to my primary care doctor, who has treated me for about six years and with whom I have developed a comfortable and cordial relationship.

I had made the appointment to address a benign skin problem and other minor issues. Finally, at the end of my list of concerns, I came to the most important item. I had rehearsed the scenario in my mind many times. I decided to go right to the point.

Almost matter-of-factly, yet with the feeling of a huge wall coming down from around me, I told him that my mother had died of Huntington’s disease and that I had tested positive.

The doctor maintained his usual professional calm. At first, I couldn’t tell whether HD represented for him just another item on my list or something really significant.

From the ensuing conversation, I was reassured to learn that he clearly knew about Huntington’s disease. He also knew the work of the UCSD HD clinic. In fact, he had previously worked several years in another sector at UCSD.

I handed the doctor a printout of my article “Racing Against the Genetic Clock,” published last November in The Chronicle of Higher Education. He promised to read it soon.

My article, written “to combat the stigma and fear surrounding Huntington’s and other neurological disorders” and “to help galvanize support for increased brain research,” revealed my HD status to the many readers of the Chronicle print edition and website and, significantly, to my professional colleagues in the fields of history and Latin American studies.

It also set the stage for informing my doctors about HD.

“I truly enjoyed reading (your) article during my lunch today and plan to keep it around when I have visitors in the office for them to review,” my doctor wrote in an e-mail later that day.

On a subsequent visit, he showed me the file where he kept my article and others about patients’ responses to challenging health conditions.

Visiting the neurologist

With a referral from my primary care physician, I then scheduled an appointment with one of the HMO’s neurologists in order to establish a relationship with a specialist in disorders such as HD and obtain a baseline reading of my neurological health.

A few days before the appointment, I faxed her a copy of “Racing Against the Genetic Clock” to provide her a detailed picture of my family’s history of HD.

At my October 7 consultation, the doctor thoroughly examined me for signs of classic HD symptoms such as difficulties with memory and the inability to walk along a straight line.

As in previous consultations at the UCSD clinic, the doctor saw no evidence of symptoms.

We discussed the various psychiatric medications that I take to help remain psychologically stable and at least one of which might protect brain cells, according to one of the physicians at the HD clinic.

I added that I would schedule an appointment with my HMO psychiatrist to help in my struggle to deal with both the psychological stress of living at risk and to do all that is medically possible to protect my brain from a disorder for which there is no proven effective treatment.

The neurologist and I also discussed the supplements I take, such as creatine and coenzyme Q-10. She immediately arranged for blood tests to check for any deleterious effects the supplements might have on my kidney and liver. To obtain this same information in the past, I had always gotten these routine tests by requesting a check on the effects of the psychiatric mediations, but without mentioning that I took supplements.

Unfortunately, my HMO will not pay for these supplements, which cost close to $2,000 per year. The health establishment does not recognize them as valid for attacking HD, as they’re in the experimental stage: several such substances have undergone study in mice and even humans.

(Similarly, for more than a decade I have consulted with a private psychotherapist who knows about my HD status but whose services are not covered by any health plan or insurance.)

At the end of the consultation, I welled up with emotion as I thanked the doctor and explained to her how meaningful it was for me to have spoken about HD to a neurologist within my health plan.

Like my primary care doctor, she maintained a professional demeanor. However, I was very happy that she agreed to receive e-mail updates of this blog.

Moving beyond the political and social drama

As I have so far felt vindicated in my decision to go fully public about HD and meld my professional and personal lives with my advocacy, so do I now feel extremely relieved and hopeful about integrating HD care into my overall health care.

By bringing these and other professionals into the HD loop, I am strengthening the team that I will need to manage the inevitable symptoms of the disease.

At the same time, I know that I stand on the edge of history with many other Americans who for the first time are testing the political and social waters in the wake of the passage of the Genetic Information Nondiscrimination Act, signed into law in 2009, as well as Obamacare.

In speaking to people from countries such as Canada and England, where public health systems allow (at least in theory) greater openness about genetic conditions, I recognize how long and difficult the path to medical transparency has been for me individually and for the nation as a whole.

It all seems like such a needless drama, which we have relived again with a U.S. government shutdown resulting from the political impasse over the implementation of Obamacare.

We in the HD community have truly suffered the brunt of exclusion, not only from proper health care, but also long-term nursing.

As I stated in my Chronicle article, “As knowledge increases about numerous other health risks, medical ethics must undergo profound revision, and a genetic-rights movement must arise. To borrow one scholar’s phrase, disease-gene carriers like me are ‘moral pioneers’ on the genetic frontier.”

During these past few weeks, I have felt very strongly that pioneering aspect of my life. I’m thrilled now to have my HMO joining me on this journey.

(Next time: Huntington’s disease and bioethics.) 

The Team Hope Walk: reinforcing the first line of defense against Huntington’s disease

In the fight against Huntington’s disease, hope begins at home.

That’s the message I took away from yesterday’s inaugural Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego) after my family’s team traversed the 3.1 mile route. It was the first time my wife, my eleven-year-old daughter, and I participated together in an HDSA event.

We walked to honor the memory of my mother, who succumbed to HD in 2006 at the age of 68, and my father, her “HD warrior” caregiver, who died with a broken heart in 2009.

Civic leaders Allan and Jane Rappoport, long-time supporters of HDSA-San Diego, joined our team. They are close friends and our daughter’s surrogate grandparents – an especially important relationship because her lone surviving grandparent lives in Brazil.

Below I’ve posted our team picture, another family milestone: it’s the first time I’m presenting a photo of my wife and daughter to the readers of this blog. I’m taking one more big step out of the “HD closet,” a long and emotionally trying process that began almost two years ago with my first public speeches about my family’s struggle with HD.


The Serbin Family "Beat HD" Team: Kenneth Serbin (left), Regina Serbin, Bianca Serbin, and Allan and Jane Rappoport (photo by E. J. Garner)

So often eroded by the fear, stigma, and denial that accompany HD, such togetherness at the starting line provides the love and strength that sustain families in the long, arduous journey with this fatal disorder.

The Team Hope Walk held special significance for me because I am gene-positive for Huntington’s. At 52, I have reached the age of my mother’s onset. Each moment without symptoms is a precious gift – and a beautiful reminder of how our daughter tested negative and can thrive as she approaches adolescence.

As I walked alongside my family and friends, I felt protected by my family and the Rappoports. All of us renewed our hopes that researchers would soon find effective therapies for HD.

Striking a balance between elite and grassroots events

In all, 34 teams and more than 200 walkers took part in the event.

In the 1990s and early 2000s HDSA focused on simple, family- and community-based events such as hoop-a-thons and walks. However, as the organization grew along with the demand for research dollars in the quest for therapies, its emphasis shifted towards elite fundraisers such as galas with expensive tickets and pricey auction items. In this respect, HDSA-San Diego excelled, bringing in several hundred thousand dollars some years with signature events such as the Celebration of Hope Gala and the Shoot to Cure HD.

For financial or health reasons, HD people and their families often couldn’t participate in the signature events.

Responding to grassroots accusations of aloofness and recognizing the need to draw families into the organization, HDSA now seeks to strike a better balance between big fundraisers and community-oriented events. (For background on HDSA issues, please click here. You can also learn more by listening to Melissa Biliardi’s March 27, 2012, interview with HDSA CEO Louise Vetter by clicking here.)

Since the inception of Team Hope in 2007, the walks have spread to 80 cities across the country. HDSA reports that these events have raised more than $3 million.

Bringing families under the umbrella

Yesterday’s San Diego walk raised nearly $30,000, well above the goal of $25,000. Presenting sponsor Vertex Pharmaceuticals donated $2,500, recruited a team of nearly 50 walkers, and staged a pre-event fundraiser at its San Diego facility. Elmcroft Senior Living also donated $2,500 and set up a large team. Elite Security contributed with an additional 48 walkers. A number of local businesses supported the event with gifts of raffle items, food, and supplies, and the Lawrence Family Jewish Community Center (JCC) provided tables, equipment, and other items.

Lundbeck, the title sponsor of the Team Hope Walks program, has provided a substantial educational assistance grant to HDSA at the national level.

Nan Pace, a JCC manager, served as event co-coordinator along with health researcher Misty Oto. Both women serve on the HDSA-San Diego board.

Above, San Diego Team Hope Walkers, and, below, walk co-coordinator Nan Pace (second from left) with friends (photos by Gene Veritas)


“The importance of this walk was to give Huntington’s disease families in San Diego an opportunity to express themselves not only visually but through their families, by contacting them and letting them know that there will be fundraising and also bringing awareness to a very important cause,” said Oto. “It was so surprising to see new families that we haven’t been in touch with create First Giving pages, fundraise, and participate. Now we have new families that are under the umbrella of HDSA because of this event.”

The dream of participation

“This is the very first time that San Diego has offered an event that all people of all abilities could participate in,” Oto added. “All of our events have been centered on marathons, bike rides, and races that were a little bit longer, and where someone with Huntington’s could not participate or someone who had a family member with Huntington’s felt that the fundraising goals were a little bit out of reach.”

Registrants paid just $25 to participate.

For HD-affected individuals who could not walk the course, HD activist Silvia Gonzalez provided a ride on her three-wheeled motorcycle.

Silvia Gonzalez gives HD patient Hank Hahnke a ride at Team Hope Walk (photo by Gene Veritas).

“That was such a huge thing, because not only did they get to participate in the event, but they got to live out the dream of riding on a motorcycle,” Oto pointed out.

Local HD families “know that they have a voice, that we are paying attention,” continued Oto, whose mother died of HD several years ago. Oto tested negative for HD but has a number of affected relatives.

HDSA has “struggled” with the need to strike a balance between research and families, Oto suggested. The Team Hope Walk “unified in one cause” three key aspects of its mission: research, fundraising, and awareness.

Team Hope Walk co-coordinator Misty Oto running the charity raffle (photo by Gene Veritas)

Preparing for the challenges ahead

The San Diego Team Hope Walk brought out the very large extended Huntington’s disease family of this metropolitan area: HD people, asymptomatic gene-positive individuals like me, gene-negative HD family members, other family members, friends, corporate and local business sponsors, and key players in the search for therapies such as Vertex and Lundbeck.

I believe that, with the proper planning and exposure, the Team Hope Walks can help inform and galvanize the HD community for a major challenge as researchers ramp up to clinical trials for potential therapies: recruitment of individuals for research studies and clinical trials.

Without such participation, scientists cannot test potential remedies for safety and efficacy, thus delaying or even preventing the arrival of treatments.

Ultimately, Team Hope involves families in the fight against HD. Families are the first line of defense – and the seed of hope.