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.

‘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)

The faceless faces of Huntington's disease

Huntington’s disease is an orphan disease with an estimated 30,000 patients and 250,000 individuals at risk for inheriting the genetic defect that causes the disorder. HD is largely unknown to the populace, or even within the medical community. When people do learn about HD, they are shocked by the way this genetic brain disorder robs its victims of their humanity, leaving them twitching nervously, emaciated, and unable to walk, talk, and eat. The result is a slow and ugly death.

For these and many other reasons, HD families face a terrible stigma.

As a pre-symptomatic, gene-positive individual who has just recently begun exiting the “HD closet” (click here to read more), I can attest to the great discrimination, ignorance, and denial that we regularly encounter. Still, I can’t reveal many of the stories, because of the risk of damaging people’s livelihoods.

We hide. We change our names. We cut ourselves off from family and friends.

We live in constant fear.

In the words of HD patient James Valvano, we are “the faceless faces of Huntington’s disease.”

Time for an HD coming-out ritual

The HD community must unite and speak with a common voice to the world: we will be heard, and we will no longer tolerate discrimination.

We will erase forever the stigma of Huntington’s disease. And, by joining hands with the millions of other brothers and sisters victimized by other neurological conditions, end their stigma, too.

As so many other disease communities have done, we must create a ritual for speaking out in public so that people can instantly identify with our plight, our cause for treatments and a cure, and our connection to the chain of social justice and human solidarity.

The Valvano family’s fight

James has thought hard about these issues.

In 2009, James’ 47-year-old brother John was diagnosed with HD after experiencing symptoms first thought to be Parkinson’s and/or the results of a stroke. Soon thereafter, James, who turns 40 this July, also tested positive for HD. He now had an explanation for his own health problems, which stretched back at least five years: shaking legs and occasional twitching in his right arm.

James Valvano (photo from his Facebook page)

“At the time I was not in the best of health and decided to change my eating habits and exercise, alongside a medication regimen,” James wrote me. “I lost upwards of 60 pounds and learned to focus my energy and meditate. I can no longer drive (my eyes flutter/move abnormally), and I sometimes have a hard time with my speech.

“I had to forfeit my small business (Marine Aquarium Shop), so I am home working on advocacy most of the day....

“Since I learned meditation techniques and decided to live more positively, I am able to function a bit less symptomatic….

“Just recently, my niece in Denver was diagnosed with HD (27) and my Dad (79) here in Saint Cloud (Florida). There are seven total (brothers and sisters) at risk. I am the second youngest of the seven, with thirteen nieces and nephews at risk.”

A film about the ‘monster’

James might have devised a successful formula for a neurological coming-out ritual.

As part of his growing advocacy, James decided to produce an allegorical film depicting HD symptoms and the fear felt by its victims. He titled it The Faceless Faces of Huntington’s Disease.

In the film’s captions. James calls Huntington’s disease a “monster” and a “living nightmare.” The main character wears a black, hooded robe and a silver, ominously expressionless mask. Afflicted by HD, this person lives a lonely life as symptoms intensify.

Police officers, also wearing masks, lock up the HD person in a small cubicle. The HD person then visits a cemetery.

“Without a cure, Huntington’s disease will win,” the film’s captioning continues. “We are not monsters.”

At the very end, James appears onscreen: “My name is James Valvano. I have Huntington’s disease. I am no longer a faceless face.”

You can watch the film below.




Scare tactics?

The Faceless Faces is not an easy film to watch. I believe it will especially shock people who have not heard of HD before or ever seen an HD patient.

In fact, the film has generated controversy among some members of the HD community. One viewer accused James of using “scare tactics.”

James addressed that criticism in a comment in an HD discussion group on Facebook.

“Let me say that I searched high and low prior to creating the film, for another interpretation similar to mine – to no avail,” James wrote in the February discussion. “Did I have another format? Yes. Why did I change the portrayal to its current state? I believed that HD needed to be exposed for exactly what it is – what I experience on a daily basis – what thousands experience (whether they have HD, [are] not yet sure, or if they are a caregiver).

“At the end of the film, it was key (in my expression) to ‘transform’ the ‘monster’ into human form – the person who lives with this horrific disease, the thousands of wonderful and loving people in our community who are not given the level of awareness which is so desperately needed.”

I contributed to the discussion with my own comment on the film:

“Someone once criticized me for saying HD was ‘dehumanizing.’ I did not apologize for my description, because it IS dehumanizing. The individual thought I was calling HD people unhuman. But it's not the people – it's the disease.

“And that is James' point. HD is a shocking disease. And unknown. So it's difficult to explain.

“I thought James packed in a lot of info into a very short time. Yes, many people will find it shocking. We need different approaches for different audiences. Some people find it difficult to look at HD people. I found it difficult to look at my own mom, because the disease had stolen her humanity and because I was looking at my own future.”

The Neuro Film Festival

The Faceless Faces has also created a stir in the community of neurologists.

James entered the film in the 2011 Neuro Film Festival, sponsored by the American Academy of Neurology Foundation. Among the more than 100 entries, it received the third highest number votes from the online viewing public. (A film about multiple sclerosis came in first, followed by one about arachnoid cysts.)

According to the festival’s website, the goal is to “help raise awareness through video about brain disorders and the need to support research into preventions, treatments and cures.”

The official first- and second-place winners of the competition, judged by a panel of academy members and film experts, will be announced at the festival in Honolulu on April 10.

‘I am No Longer Faceless’

To build awareness even further, James is preparing part two of the film, titled The Faces of Huntington’s Disease: I am No Longer a Faceless Face.

For this phase of the project, James is collecting short video clips of people taking off a mask and stating this sentence: “My name is (state name) and (I have Huntington’s disease) (someone I love has Huntington’s disease) (I am at risk for Huntington’s disease), etc., and I am no longer a faceless face.”

In a teaser clip for part two, James calls for everybody in the HD community tell his or her story: “You are special. You are a fighter. Our story must be told. Let’s put the stigma to rest. The mask is off. We are no longer faceless. It’s a new day for awareness. We will let the world know – together.”

James plans to travel across America to visit participants in the film. He also hopes to fly overseas

“I believe it is time for us to unite as a worldwide community and bring about a wave of awareness unlike any other!” James wrote on his website.

Combating discrimination

The task of ending the facelessness of Huntington’s disease is urgent. Despite the passage of the Genetic Information Nondiscrimination Act of 2008, people in the HD must still confront harsh discrimination and ignorance about the condition. (In a future article I plan to explore the enforcement of this act.)

HD people continue to land in jail because police officers think they are drunk or because of aggressive behavior caused by the disease.

Amanda K. Titus-Meadows of Marquette, MI, recently told me and others in an HD group on Facebook that her mother Teresa, a licensed practical nurse, was laid off from her job at a hospital late last year because she’d been diagnosed with early-stage Huntington’s. Amanda gave me permission to tell this story.

Suffering mainly from short-term memory loss, Teresa, 50, was nevertheless told “by both of her doctors, her neurologist, and her memory specialist that she is perfectly capable of still working. They were the ones who encouraged her to speak to a lawyer, because they believe that her rights have been violated and her employer is breaking the law.”

The doctors also pointed out that the hospital had asked for Teresa’s “medical records without a release.” Amanda added that Teresa’s boss filed disability and unemployment papers without Teresa’s consent.

The family has retained an attorney.

Sickening treatment

In the discussion, other HD-affected people revealed that co-workers harassed them or pushed them out of their jobs.

“I'm sickened that things like this happen to people,” Amanda wrote. “How upsetting that we be counted out just for carrying a disease. This should be handled with kid gloves and no different than a case with somebody who has diabetes, lupus, or any other disability.

“I hope that for the future of our potentially afflicted children that we are able to make the disease clear to those who don’t understand and protect them from suffering the same discrimination.”

I added my own feelings about this situation: “I am deeply saddened, disturbed, and angered.… NOW WE KNOW why so many people in the HD community are FACELESS! We've all got to fight for our rights! Many people have asked why I use a pseudonym on my blog. It's experiences like Amanda's mom's that have kept me anonymous for fear of losing my own job.”

Removing the mask (again)

To those in the HD community who would still hesitate to end their facelessness, James says: “If not now, when?”

After remaining anonymous for 15 years after my mother’s diagnosis with HD in 1995 (she died in 2006), I began to exit the HD closet last year.

On February 7 of this year I came out to some 250 prominent HD scientists and other attendees by giving the keynote address to “Super Bowl” of Huntington’s disease research, the 6th Annual HD Therapeutics Conference, held in Palm Springs, CA, and sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative.”

My speech was titled “Blog Entry No. 85 … Unmasking the World of Gene Veritas: An Activist Copes with the Threat of Huntington’s Disease.”

On March 31, I spoke about HD to the very first time to a trusted co-worker, although I’m still deeply fearful of potential discrimination if more colleagues find out.

Like tens of thousands of affected, gene-positive, and at-risk individuals, I’m in a race against time. We are all awaiting treatments for HD.

For me, the time to speak out is truly now. I will submit my own short video clip for inclusion in The Faces of Huntington’s Disease: I am No Longer a Faceless Face. Please watch below.

This video is my way of bidding farewell until my next article – and of asking everybody to help make HD, and other devastating neurological disorders, diseases with real faces.

Gene Veritas: No Longer a Faceless Face of Huntington's Disease from Gene Veritas on Vimeo.