Savoring 20 years of my Huntington’s disease blog

 

This month I am celebrating the 20 years of this blog.

 

I began At Risk for Huntington’s Disease on January 10, 2005, wanting to “squeeze as much life into my days as possible” before experiencing the debilitating HD symptoms that led to my mother’s death a year later. Because I lived in what I called the “terrible and lonely HD closet” – fearful of genetic discrimination – I used the pseudonym “Gene Veritas,” “the truth in my genes.” That name reflected the fact that I had tested positive for the HD gene in 1999.

 

My mother died at 68, after two decades of debilitating symptoms, which was very painful to watch.

 

I turned 65 last month. By this age, I had expected to have full-blown HD, which would have left me unable to work, drive, or write.

 

But, according to my latest neurological checkup, I don’t yet have apparent HD symptoms!

 

In general, the more abnormal the gene, the earlier the age of disease onset. My mother and I have the same gene mutation, suggesting a similar disease path. However, although my mother’s symptoms started in her late 40s, one or more modifier genes, the functions of which were discovered a decade ago, have perhaps delayed my disease onset.

 

This article is number 336. Each day of good health is a blessing.

 

Gene Veritas (aka Kenneth P. Serbin) with his blog (photo by Regina Serbin)

 

The impact

 

In 2012, I exited the HD closet by publishing an essay – and using my real name, Kenneth P. Serbin – in The Chronicle of Higher Education. It was titled “Racing Against the Genetic Clock.” Going public opened new vistas of advocacy and enabled me to blog with greater transparency.

 

In December 2022. I published a detailed analysis of the blog in “Striving for a Realistic and Unapologetic View of Huntington’s Disease” in the Journal of Huntington’s Disease. It described how the blog has helped give voice to the HD community by exploring the major challenges faced by HD families, becoming a key reference for those families, and chronicling the quest to defeat the disorder.

 

As I observed, the blog has also “helped document the new and harrowing experience of living in the gray zone between a genetic test result and disease onset.”

 

At Risk for HD has addressed multiple topics including advocacy, caregiving, family trauma, coping strategies, genetic testing, discrimination, leaving the HD closet, participation in research and clinical trials, as well as religion, faith, and spirituality.

 

When my mother was diagnosed with HD in 1995 – two years after the discovery of the gene – little hope existed for treatments that could slow the progression of HD. However, in the past decade, advances in academic labs and biopharma firms have led to key clinical trials that show potential for affecting the course of HD and perhaps even a cure (click here to read more).

Telling the story of those complex developments has become a major focus of At Risk for HD. With the growing number of research projects, I have necessarily highlighted those that appear closest to producing actual drugs such as the Roche gene silencing program, which I have covered extensively.

 

In 2021, the first Roche trial showed lack of efficacy. In 2023 Roche started enrolling volunteers in a more focused trial to see if the drug might work at least in some patients. Other key trials are in progress or being planned.

 

Hoping for an HD-free world, savoring life

 

Writing the entries of At Risk for HD has given me great meaning and purpose, which researchers have identified as increasing well-being and positively impacting the course of the disease.

 

For now, I plan to continue blogging as long health permits – and until the quest for a cure is complete.

 

In February, I hope to attend the crucial 20th Annual HD Therapeutics Conference at the Parker Hotel in Palm Springs, CA. The conference is sponsored by CHDI Foundation, Inc., the largest private funder of HD research.

 

In 2011, I delivered the conference keynote speech before 250 scientists, physicians, and biopharma reps – a decisive step towards my complete exit from the closet in 2012 and chronicled in this blog.

 

I have described the conference as the “Super Bowl of HD research,” covered in many blog articles and videos of scientists (see, for example, this one).

 

With the rest of the HD community, I hope for the announcement of effective treatments. I very much look forward to reporting on progress.

 

Just as important is the need to savor life – another key lesson of my journey with the HD community, this blog, and my friends and family.

Blog article No. 300: who exactly is Gene Veritas?

 

On January 10, 2005, I began the first post in this blog with a simple but consequential sentence: “My name is Gene Veritas and I am at risk for Huntington’s disease.”

 

Today, 16 years and two months later, after my mother’s death from Huntington’s at age 68 in 2006 and my own long struggle to avoid disease onset, I am writing my 300th post.

 

Now 61, I never expected to get this far. Starting in her late 40s, my mother’s symptoms left her progressively unable to care for herself and ultimately bedridden. And I inherited from her the same degree of mutation in the huntingtin gene – which I long thought portended the same fate.

 

As I have noted often in recent years, I feel extremely lucky to remain asymptomatic. Although there is (as yet) no genetic test available to individuals to pinpoint the reason, researchers have discovered key modifier genes that slow or hasten onset among people with identical mutations (click here to read more). Also, as doctors and researchers have observed, my efforts to lead a healthy lifestyle likely have also helped.

 

In the early years of the blog, writing under the protection of my Gene Veritas pseudonym, I focused mainly on my family’s struggles with the many medical and psychosocial ramifications of HD. More recently, with the tremendous advances in HD research of the past decade, I have emphasized the science and the advent of crucial clinical trials. Those trials have brought unprecedented hope for the HD community.

 

However, in the whirlwind of HD advocacy and writing, I have not paused to reflect on the deeper meaning of my alias. Even after I went fully public as Kenneth P. Serbin nine years ago in an article in The Chronicle of Higher Education, I am still widely known in the HD community as Gene Veritas.

 

I have relished explaining a pen name that has become my trademark. In my HD work, I actually prefer the pseudonym, which not only intrigues people but also instantly focuses our interaction on the profound implications of Huntington’s.

 

To mark my blogging milestone, I thus want to clarify two things: who exactly is Gene Veritas? And what does that name mean?

 

A college professor and family man

 

Huntington’s, as a 100-percent genetic disorder, always involves stories about families.

 

After the news of my mother’s diagnosis blindsided my wife Regina and me in late 1995, our life plans changed dramatically. A future as my potential caregiver has loomed over Regina ever since. She is ever thankful about my delayed onset.

 

We forged ahead as best we could. Over the past two decades, we have brought our HD-free daughter Bianca to the threshold of adulthood. Bianca expects to graduate from college in 2022.

 

I am in my 28th year as a history professor at the University of San Diego, and Regina works as an instructional coordinator for the San Diego Unified School District.

 

As a family, we have been active in the local chapter of the Huntington’s Disease Society of America. In 2017, we traveled to Rome for one of the most extraordinary moments in our journey with HD, “HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America.”

 

In the doctor-recommended enrichment and exercise that I practice, I have included the canine member of our family, our cockapoo Lenny, with long walks on diverse routes through our neighborhood.

 

Gene Veritas (aka Kenneth P. Serbin) with wife Regina, daughter Bianca, and dog Lenny (family photo)

 

Representing our common struggles

 

I began this blog under “Gene Veritas” because I lived in the “terrible and lonely HD closet,” fearing discrimination on the job and in healthcare and insurance matters. I built what I have described as an “absolute firewall” between my HD reality and the rest of my life.

 

In February 2011, I took a major step out of that closet by delivering the keynote speech at the “Super Bowl” of HD research, the Sixth Annual Huntington’s Disease Therapeutics Conference, sponsored by CHDI Foundation, Inc., the nonprofit virtual biotech solely dedicated to finding HD treatments. It was held in Palm Springs, CA.

 

About 250 prominent scientists, physicians, drug company representatives, and others listened to my speech, which was titled “Blog Entry 85 … Unmasking the World of Gene Veritas: An Activist Copes with the Threat of Huntington’s Disease.” (I referred to an “entry” instead of “post,” because of the diary-like nature of the blog in the early, anonymous years. Now I use the term “article,” because the posts have become more in-depth and sometimes run several thousand words or more.)

 

As I wrote in an article about that key moment, despite revealing my real name to the audience, my penname “‘Gene Veritas’ will still live on in cyberspace.[…] Through its anonymity and universality, it symbolizes the common struggles of families threatened by HD and numerous other neurological and genetic diseases.”

 

Indeed, in many talks since then I have introduced myself with both my real name and pseudonym.

 

‘The truth in my genes’

 

I explain to people that “Gene Veritas” means “the truth in my genes.”

 

A “gene” is a sequence of DNA, the code that programs our development as humans and gives us particular characteristics. “Veritas” is Latin for “truth.”

 

The truth of my future lies in the mutant huntingtin gene that I inherited from my mother.

 

I also have a personal connection to “veritas”: it forms part of the motto “lux et veritas” (light and truth) on the seal of my alma mater, Yale University.

 

The connection to Yale bubbled up from my subconscious while I was searching for a pseudonym. Surely Yale also came to mind because of the solidarity, advice, and assistance I have received from fellow alumni (click here, here, and here to read more).

 

As one observed, because of the devastation caused by HD, the pseudonym can also represent a grim pun on the school motto.

 

We are all Gene Veritas

 

On March 8, I participated in an online interview conducted by HD global advocate Charles Sabine and Simon Noble, Ph.D., CHDI’s communications director. They wanted to learn more about the Gene Veritas facet of my life.

 

Dr. Noble asked me whether I had an alter ego and other identities, in line with the ideas of 2010 keynoter and graphic novelist Steven Seagle, who has addressed his family’s way of confronting Huntington’s by juxtaposing the reality of disabling HD with the fantasy of Superman.

 

“Gene Veritas” is my alter ego, I said.

 

So, Dr. Noble wanted to know, how did the Gene Veritas alter ego protect me? Did it allow me to do other things? Did I become a different person in some respect? Were there positives to being Gene Veritas?

 

“Absolutely,” I responded. “Being anonymous for so many years allowed me to be completely honest about Huntington’s disease. Those first years of the blog were a complete explosion of HD honesty – talking about the feelings, talking about the discrimination, talking about the anger, the hurt, the pain, worrying about my mother, seeing my mother die from the disease. Those early years were really, really hard.”

 

This blog and “Gene Veritas” have also served as coping mechanisms, I added, and they allowed me to build awareness about HD.

 

“But how to build awareness anonymously?” I continued. “It’s like a contradiction in terms. That’s why ‘Gene Veritas’ became so important, because I was somebody. I couldn’t be Ken Serbin, but I could be Gene Veritas.”

 

Pondering further the universality of my pseudonym, I observed: “It’s my story, but it’s really the story of the HD community. Anybody could be Gene Veritas in the HD community. Because I think we’ve all been at one point or another a kind of Gene Veritas, at least when we first find out about Huntington’s. It’s representative. It’s something that has a broad meaning to it.”

 

Writing the history of the HD movement

 

In this blog, my CHDI keynote, and other speeches, I have documented the new and harrowing human experience of living in the gray zone between a genetic test result and onset of a disease.

 

In my CHDI speech, I showed a slide with a simple breakdown of main blog topics to that point. Information about the disease and research was the leading topic, followed by articles on my mother, fear of onset, and coping.

 

I will do a more fine-grained content analysis of posts for an academic article on the blog as a coping mechanism, fount of information for the HD community, and source of insight into the fight against HD and the search for therapies. I will submit the article to a scientific or medical journal.

 

I am also planning a book on the history of the Huntington’s disease cause, tentatively titled “Racing Against the Genetic Clock: A History of the Huntington’s Disease Movement and the Biomedical Revolution.” The blog will serve as a considerable primary source (a document or other material produced by a participant in a historical event) for my research and/or future historians of the HD cause.

 

In academic year 2021-2022, I will dedicate an expected sabbatical (a leave from teaching and other on-campus duties) to the book project. I will consult researchers, physicians, and members of the HD community about the key themes.

 

I earnestly hope to recount in this blog and my book the achievement of effective treatments for HD.

Faith in each other: sticking together through the challenges of Huntington's disease

This article is dedicated to my lovely wife Regina and to HD caregivers.

In 2017 my wife Regina and I marked 25 years of marriage with several celebrations, including a May dinner in Rome before meeting Pope Francis at #HDdennomore and then at one of our favorite San Diego restaurants on our anniversary, December 8.

Throughout last year, I relished the many triumphs of our life together: establishing successful careers, building important friendships, and raising our daughter Bianca, who will graduate from high school in June.

I have also reflected on how Regina and I have confronted the ordeals of Huntington’s disease, the debilitating, genetic neurological disorder that took my mother’s life twelve years ago this month. Because I too carry the HD gene, I will inevitably develop symptoms.

Last year, former San Diego Chargers PR director Bill Johnston exemplified the commitment to caregiving when, after 38 years with the team, he skipped its transfer to Los Angeles to keep his wife Ramona in an award-winning HD care facility.

“He didn’t run away from his marriage vows,” HD community member Dave Elliott reacted to the news in a Facebook comment. In HD families, those vows imply a heightened commitment.

Gene Veritas (aka Kenneth P. Serbin) and Regina Serbin at the Vatican Museums, with St. Peter's Basilica in the background, Rome, May 2017 (photo by Bianca Serbin)

Avoiding the HD shipwreck

Regina and I have faced the challenges of HD together.

The day after Christmas 1995, we received the terrible news that my mother had HD, that I had a 50-50 chance of inheriting the genetic defect, and that the children we planned for also faced a risk.

Many relationships shipwreck upon receiving such news (click here to read more).

However, Regina stood firmly by my side. One night, as I lay beside her gripped with fear, she hugged me tightly.

In 1999, Regina sat by my side as a geneticist revealed that I had tested positive for the HD gene.

Seven months later, we shared a tremendous sense of relief with the news that the baby in her womb, our daughter Bianca, had tested negative.

In 2011, Regina sat in the front row as I delivered the keynote address at the “Super Bowl” of HD research, the Sixth Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc.

Each day, Regina lives with the fear that she could lose me to HD. Like my “HD warrior” father, who cared for my mother daily for more than a decade, she faces the prospect of watching (and tending) to my slow deterioration and loss of self.

However, not once has she blinked in her commitment.

With faith in each other, and also in the Creator, we have stared down the lion of HD. Striding side-by-side in annual Team Hope Walks, we yearn for an effective treatment.

A healthy relationship might delay onset

Like any long-term relationship, ours has had its ups and downs. Sometimes our different cultural backgrounds (Regina’s from Brazil) have led to disagreements. Overall, though, we have come to accept and appreciate each other’s foibles.

Ken and Regina in front of the Sugar Loaf Mountain in Rio de Janeiro, 1991 (family photo)

We’ve built a united front in running the household, helping Bianca prepare for college, and strengthening the family finances, preparing for the likelihood of my disability.

Whereas my mother’s HD symptoms started in her late 40s, at 58 I have fortunately avoided HD onset.

Scientists are still seeking to explain the differences in onset in people with identical HD mutations like my mother and me. I’ve strived to lead a healthy life, as I’ve chronicled in this blog.

Though the data from studies is complex, science suggests that healthy relationships can help promote overall health.

I firmly believe that I remain asymptomatic in good part because of Regina’s love and support, and because of our shared mission to build a family and raise a thriving child, soon to turn 18.

Treasuring my family

In our frenetic society, and as my aging seems to make life move faster, it becomes easy to take Regina for granted in our daily routines.

I feel a deep need to stop time and savor every moment with Regina and Bianca.

As I've pondered the deeper meaning of our marital commitment, I've focused on what's essential: treasuring them fully.

Dreams for a better future: an opportunity we Huntington’s disease people and our families are denied

Because of its devastating medical and social impact, Huntington’s disease often forces affected individuals and their families to abandon their dreams.

After learning of my mother’s diagnosis for HD in 1995 and then testing positive for the deadly gene in 1999, I became aware of how the disease could damage family finances.

HD families not only lose the income of the affected individual; they also bear the costs of caring for that person, including nursing home fees. Sometimes the caregiver quits his or her own job in order to stay at home with the patient. Sometimes an exhausted caregiver even dies before the HD person.

Fearing such consequences, my wife Regina and I abandoned the idea of buying a retirement home in her native country of Brazil, in order to save more money to pay for my future care.

Our daughter tested negative for HD in the womb and is today a healthy 16-year-old. Unwilling to repeat the long and psychologically traumatic process of prenatal genetic testing, we decided to have no more children. That decision was especially painful for Regina.

Delving into the cause for a cure to save my deteriorating mother, I was compelled to add a new, fundamentally different dimension to my academic career: in addition to Brazilian history, I now also study the history of science, technology, and medicine. In this blog I have tracked the development of HD research, chronicled the HD cause as a social movement, and documented the new and harrowing human experience of living in the gray zone between a genetic test result and disease onset.

This new dimension has brought many rewards, but I often fantasize about what my career would be like if it weren’t for HD.

A diversion and a trigger

Brazil, my research passion, became simultaneously a diversion from and a potential trigger of HD onset. I eagerly looked forward to the escape to the wondrous culture of Brazil during my summer research trips.

However, with both HD and my intellectual legacy on my mind, each spring I prepared feverishly for those trips, packing into my schedule as many research tasks as possible – including meetings with Brazilian Huntington’s advocates. On the plane south, I worried about whether I was doing the best thing for my health. Relaxation and exercise in San Diego seemed more beneficial than living in hotels and eating restaurant food while exposing myself to the pollution and winter weather in the São Paulo megalopolis, where I did a lot of my work.

Facing HD, I couldn’t help but wonder if each trip might be my last.

Going international

As I became more deeply involved in HD advocacy and this blog over the past ten years, I lost some passion for Brazil research.

My mother’s death in 2006 figured heavily in that equation. As I watched her succumb to HD, I knew I would be the next to be stricken by the inevitable symptoms.

Research on Brazil sometimes seemed irrelevant. However, I kept at it, continuing a string of annual research visits stretching from 1986 to 2010, and again in 2013, 2015, and 2016. Today I consider myself bi-cultural, and my network of contacts in Brazil has made my HD advocacy international.

A new perspective

Lately, I’ve entered yet another stage of my journey with HD.

This year marked the tenth anniversary of my mother’s death. With time, memories of her struggle have become less frightening.

At the same time, something more important has occurred: at 56, the age at which my mother had involuntary movements and was losing her cognitive abilities, I have yet to develop any of the classic, visible signs of HD.

Scientists are getting closer to explaining the reasons for different age of onset in people like my mother and me who have the same degree of genetic defect (click here to read more). Unlike my mother, I’ve had the advantage of knowing that I carry the gene. So I have cared for my health more conscientiously.

After testing positive at age 39, I was convinced that I would by now have symptoms that would prevent me from working and traveling to Brazil.

I have been extremely lucky. As a result, my perspective has changed. I feel more optimistic about life because of the wonderful blessing of health that I currently enjoy.

Also, while in 1995 there was a dearth of potential HD remedies, today researchers run clinical trials in the quest for remedies to alleviate HD and perhaps even make it a manageable disease, thus allowing people to lead normal lives.

Having gotten this far, and looking back on two decades of advocacy, I am also somewhat more at peace with the fact that HD will inevitably strike me.

I know I am fighting the good fight. Ultimately, I cannot control my fate.

Taking a break from the cause

I took a break this summer from the HD cause. I devoted much of it to working on a long-gestating book project on former revolutionaries in power in Brazil, including Dilma Rousseff, the president of Brazil impeached in March and removed from office on August 31 by a vote of the Brazilian Senate. To grasp this important moment in Brazilian history, I have immersed myself in the events, including watching live video.

I had started the research on this project shortly after learning of my mother’s diagnosis. I had never imagined that at 56 I would still be able to write.

Focusing fully on Brazil again this summer, I felt in my element.

I did feel guilty this summer about not responding immediately to some requests for help from members of HD families.

However, I also recalled how many HD people give up on their dreams. I thought specifically of one asymptomatic gene carrier who decided to put advocacy aside and dedicate himself fully to a promising career.

“I have a right to self-fulfillment, too,” I told my psychotherapist. “I have given up so much because of HD. I really want to finish my book on Brazil.”

All HD-affected individuals and their families have the right to their own dreams!

That’s what we in the HD community are fighting to restore.

A stark reminder of HD

The gravity of our struggle hit home again on September 13, when Laura Rivard, Ph.D., invited me to attend a screening of the HBO documentary The Lion’s Mouth Opens in her course Ethical Issues in Genetics at the University of San Diego. (In a future article, I will explore HD and bioethics in the context of Dr. Rivard’s course.)

The film portrays filmmaker-actress Marianna Palka’s decision to test for HD. Before class, Dr. Rivard’s students also watched a video of me, produced by one of her former students, in which I discuss my own experiences with genetic testing (click here to watch the video).

The scenes with HD people moving uncontrollably starkly reminded me of my mother – and once again of my own terrible burden as a gene carrier.

Our biggest dream: an effective treatment

After we watched Marianna learn from a geneticist that she carries the HD gene, I answered students’ questions.

One asked: “Do days ever go by when you totally forget about your diagnosis, or is it always in the back of your mind?”

“It’s almost always in the back of my mind,” I responded.

However, I added: “I haven’t blogged since May. This is one of the longest periods I’ve gone without blogging.”

I explained that my Brazil book had priority over the summer.

“I’ve been able to put Huntington’s disease aside for the first time in many years,” I said. “It’s really nice to wake up some days and think about Brazil instead of Huntington’s disease.”

After leaving Dr. Rivard’s class, I remembered that the battle for treatments continues. It’s a battle that we need to win.

Like others affected by HD, I don’t want to become a financial and caregiving burden for my family. And like others, I want to experience the joys of family milestones, such as seeing my daughter graduate from college and start adult life without the worry of an incapacitated father.

An effective treatment will make that possible. Right now, that is our biggest dream.