From sheepish to self-assured in the fight against Huntington’s disease

Occasionally some readers of this blog have told me that, in comparison with their own travails, it seems that I cope well with living at risk for Huntington’s disease.

With two decades of experience in the HD fight, a loving family, and a support system that includes a helpful psychotherapist and other health professionals, I’ve become more self-assured.

However, the hard truth is that I have struggled a lot.

Each act of advocacy, including the articles I post here, represents a challenge.

Driven by fear of the illness, I’ve constantly strived to improve my advocacy.

I’ve also been inspired by the dedication and ingenuity of HD researchers as they’ve advanced towards the first treatments for this complex, incurable disorder. I believe that the hope of effective treatments has boosted the overall morale of the HD community.

Scientists, physicians, drug companies, and advocates all unite forces in this historic quest. Ultimately, HD-affected families hold the key to success. Without our participation in research studies and clinical trials, we won’t defeat HD.

The ‘HD closet’

I first heard about HD when I learned of my mother’s diagnosis, the day after Christmas 1995. I was about to turn 36.

I immediately started educating myself about the disorder, including the fact that, as the child of an affected parent, I had a 50-50 chance of having inherited the defective gene.

I started attending a monthly HD support group. A few years later I became very active in the local chapter of the Huntington’s Disease Society of America (HDSA).

However, for many years I hid in the “terrible and lonely HD closet,” telling nobody but close relatives and friends about my family’s plight.

I quickly learned to feel comfortable around other HD advocates and support group members, but, when first attending public events, I acted sheepishly.

Thanking my geneticist

Last week, I wrote a thank-you e-mail to Dr. O.W. Jones, who made a very generous donation to my family’s team in the HDSA-San Diego Team Hope Walk, held April 10.

Dr. Jones was the geneticist who delivered fateful news to me in 1999: I carried the HD gene.

In early 2000, he brought the best of news: our daughter-to-be had tested negative for HD in the womb.

Every year I send Dr. Jones, now retired, our family Christmas photo. It’s my way of thanking him again for his assistance, and also a way for us to both recall his sage observation after I received my test results: “a positive test is not a diagnosis of the disease.” I’ve lived with that knowledge for nearly 17 years without developing classic symptoms.

“Hi Ken: Keep it going!” Dr. Jones wrote on our donation page.

Summoning up courage

As I sent my latest note to Dr. Jones, my mind hurtled back the first HDSA-San Diego fundraising gala in October 2001. HDSA presented Dr. Jones with its Distinguished Leadership Award for, as I later wrote in an anonymous article in the chapter newsletter, “his informed and compassionate assistance to the many families faced with the traumatic difficulties of genetic testing for the disease.”

It was my first high-profile HDSA event, with community leaders such as San Diego Chargers President Dean Spanos present. Dr. Jones’s family also attended.

I had never ventured to bring up HD with anybody outside my inner circle, yet I wanted to personally express my appreciation for Dr. Jones. With great trepidation, I approached one of Dr. Jones’s relatives, an adult daughter. In general terms, but with great emotion, I told her how her father had played a very important role for my family.

I had to summon up great courage to say those words. In a very tentative way, I had “come out” about HD.

Small steps are okay!         

Like life, advocacy is a process. Many of my early blog articles reveal how long and difficult the path to greater self-assurance has been.

Indeed, only in late 2012 did I fully exit the HD closet.

It’s still not totally comfortable for me to address HD with people outside my inner circle.

Indeed, who could ever be completely self-assured when facing a disease like Huntington’s?

Ultimately, overcoming the insecurity resulting from the threat of HD starts with joining the cause.

Small steps are okay! With time, they will lead to bigger ones.

The accumulation of small steps by many people is powerful. As I always tell people in online discussions or e-mails, “together we will beat this disease!”

Becoming more assertive

At the first HDSA-San Diego Team Hope Walk in early 2012, my family had a small team and raised very little money.

Since going public later that year, I have grown more assertive.

The exhortation of one leading local advocate at our support group has often guided me: if we don’t tell our stories, why should anybody care about us?

I have shared my family’s story with as many people as possible: relatives, friends, co-workers, high school and college classmates, and new acquaintances.

In the last three walks we have entered, my family’s team has raised more than $30,000 for HDSA, thanks to our generous donors.

In addition to raising funds, we’ve educated scores of people about Huntington’s disease and the need for treatments.

This year’s San Diego Team Hope Walk was especially poignant. After the several hundred participants finished the course, we held a minute of silence for Terry Leach, the brave 18-year-old San Diegan who lost his life-long fight against HD on January 2. Terry's mother Angela took part in the walk.

It’s time to stop the suffering caused by HD, help point the way to cures for other neurological and rare diseases, and make brain health a national priority.

(In the spirit of assertive advocacy, I dedicate this article to the members of the Serbin Family Team and the many donors who supported our participation in the 2016 Team Hope Walk. Thanks to their generosity, we garnered $9,400 for HDSA, making us the top local walk fundraiser for the third time! Scroll down for photo highlights of the walk.)

The Serbin Family Team at the 2016 HDSA-San Diego Team Hope Walk: from left to right, Gary Boggs, Yi Sun, Regina Serbin, Dory Bertics, Isabelle Wisco, Bianca Serbin, Allan Rappoport, and Kenneth P. Serbin (aka Gene Veritas) (photo by Randy Oto). Not pictured: Jayne Millum and Cindy Stempien.

Serbin Family Team members Gary (left), Ken (Gene Veritas), Regina, and Yi with downtown San Diego skyline in background (personal photo)

Advocate Sharon Shaffer, affected by HD, greets former HDSA-San Diego president Bill Johnston, public relations director of the San Diego Chargers and recognized during the event along with daughter Hayley for their leadership in the HD cause (photo by Gene Veritas)

HDSA-San Diego vice president Misty Daniel (left) recognizes Tim Schroeder, one of the top Team Hope Walk fundraisers, for his steadfast, exemplary fight against Huntington's disease (photo by Randy Oto).

Misty and Angela Leach, mother of deceased juvenile HD patient Terry Leach, at the start of the minute of silence for Terry (photo by Randy Oto)

Participants in the 2016 HDSA-San Diego Team Hope Walk (photo by Randy Oto)

Fanny & the Attaboys provided live entertainment (photo by Randy Oto).

Gene Veritas (left) with HDSA-San Diego president Burt Brigida (personal photo)

Paul Negulescu (left), vice president of research at Vertex Pharmaceuticals, a sponsor of the Team Hope Walk that conducts HD research, with Gene Veritas, Debbie Negulescu, and Heather Farr of Vertex (photo by Bianca Serbin)

Team Hope medals awarded to all participants in the Team Hope Walk (photo by Randy Oto)

The path to the cure of Huntington's disease (photo by Randy Oto)

Out of the closet and on to the cure

I have taken my biggest step ever out of the HD closet.

Yesterday I gave a presentation to about 50 people at the Vertex Pharmaceuticals facility in the biotech corridor of San Diego. I titled it “Gene-Positive for Hell: My Family’s Fight Against Huntington’s Disease.”

This was the first time I spoke publicly about HD in the United States and identified myself as gene-positive for HD. I had come out to an audience in Brazil in June. (In this blog I will continue to use my pseudonym, Gene Veritas.)

It’s a day I won’t forget, as long as I can stay healthy and not succumb to the symptoms of HD that destroy the ability to remember and communicate.

An emotional preparation

Vertex is a drug-discovery company now turning its focus to Huntington’s. I had met Beth Hoffman, Ph.D., the company’s Vice President of Biology, at the CHDI conference in Palm Springs last February. The company’s philosophy of close collaboration with patients and disease-fighting organizations led to an invitation to speak about my personal experiences.




In the days before my talk, I struggled to find the right formula for the presentation. I knew I'd have to be precise and compelling, because the audience would mainly include highly-educated scientists.

Preparing for it drained me emotionally. I reviewed some short videos I had shot of my HD-stricken mother and my father, the “HD warrior” who cared for her for 15 years until she entered a nursing home in 2005. She died in February of 2006, and my father died on September 25, 2010 – a year ago today.

My ten-year-old daughter, who recently learned of my gene-positive status, watched the videos on my computer screen and saw some of the PowerPoint slides I was setting up for the presentation. I explained to her that I would be making a speech about HD.

On Thursday, September 23, I awoke at 2:30 a.m. with a burst of energy and anxiety. I spent the next two-and-a-half hours finishing the PowerPoint. At 5 I turned off the computer and started my normal morning routine of stretching, breakfast, a shower, and the drive to work.

A big surprise

On Friday afternoon I was only at Vertex for a few minutes when suddenly I recognized a familiar face. It was a neighbor whose daughter attends the same school as our daughter. We shared school car-pooling duties one year, and the two girls played one season on the same soccer team.

“Today you’re going to learn something new about me, something pretty big in my life,” I said as I shook his hand.

I was very surprised to see him. My mind immediately went to work on processing this unexpected bit of data. I had prepared myself to speak to the Vertex audience, but I had not imagined speaking to neighbors.

“You’re really going to go public today and take this all to a new level,” I told myself. “Whatever happens, happens.”

HD’s impact

My presentation compressed 15 years of my family’s confrontation with HD into 45 minutes. I defined Huntington’s as “one of the cruelest of diseases.” Its social impact is immense. HD burdens families with round-the-clock caregiving, financial strains, discrimination, insurance issues, the difficult decision about whether to have children, and the curtailment of many of life’s dreams.

Then I described some of my mom’s symptoms and their consequences. Her wobbly walk, for instance, constantly put her in danger of falling. Once she broke a wrist, and another time she sustained a large gash to her head that required staples.

Next I focused on HD’s impact on my wife and me. I began with my decision to get tested, the result of my wife’s and my desire to have a child and to insure that he or she would be free of HD.

I revealed that we had a difficult time committing to our daughter-to-be until we received the news from our geneticist that she had tested negative in the womb. This, I told the audience, was one of the happiest days of our life.

Juxtaposing a photo of our daughter playing soccer next to another in which she posed with Terry Leach, a victim of juvenile HD, I contrasted our healthy “miracle baby" with her potential fate – and our immense worry and pain – had she tested positive.

I felt as if I were riding an emotional rollercoaster, careening from one sharp curve to another. I relived many intense moments of anger, frustration, and fear. Several times I nearly cried but instead spoke even more passionately.

A big step

I have responded to the challenges of HD by channeling my energies into activism for the Huntington’s Disease Society of America (HDSA). I outlined for the audience the many facets of this work: fundraising, production of the chapter newsletter, website development, advocacy, volunteer recruitment, participation in the HD support group, reporting on research, and my blog.

I concluded the personal aspect of my presentation with some thoughts about “exiting the HD closet.” This was a “big step” for me, I told the audience. It was the culmination of a very long process.

I – and many other people in the HD community – can now breathe a little bit easier thanks to the implementation of the federal Genetic Non-Discrimination Act and the passage of President Barack Obama’s health care reforms, which prohibit exclusion of people with pre-existing conditions from insurance coverage.

Imagine, I told the audience, had these measures been in place 15 years ago when I began my fight against HD? I could have been more open about it all, and would have had far fewer worries about insurance.

Imagining a celebration

After my presentation, the Vertex employees asked questions for about 20 minutes about various aspects of my life with HD. Knowing the intellectual acuity of scientists, I had expected some pointed questions.

But I felt great empathy from the audience. As Dr. Hoffman explained to me, seeing the real impact of a disease on people is far different from a discussion about the disease as seen in a test tube.

During the question-and-answer period, Paul Negulescu, Ph.D., the Vertex VP for research and the head of the San Diego facility, asked how I deal with HD on a day-to-day basis. I gave Dr. Negulescu several examples of the mechanisms I have developed, including the deep catharsis I experience in writing this blog.

Later, alluding to his question again, I said that I want to return to Vertex after the company has found a cure for HD and get drunk with him and everybody else to celebrate!

Vertex has potential drugs in the pipeline for controlling cystic fibrosis – like HD, a genetic disease – as well as one for hepatitis C.

Vertex’s HD program seeks to find ways to correct the action of faulty proteins in brain cells. (I'll write more on Vertex’s strategy later.)

I joked to the audience that they had better hurry up, since another San Diego biotech, Isis Pharmaceuticals, Inc., is also hard at work on a major treatment.

After the Q & A, I mingled with the attendees as they partook of the spread of food and beverages the company had laid out. My neighbor came up to me. “I thought of your wife and daughter in all of this,” he said, referring to the many travails I had presented.

The Vertex approach

My visit to Vertex – along with three other members of the HDSA-San Diego board who saw my presentation – helped build an initial bond between the company and the local HD community. To find treatments and a cure for an orphan disease such as Huntington’s, Vertex and the HD community must work together.

Before and after my talk I spent several hours interviewing Dr. Negulescu, Dr. Hoffman, and other Vertex researchers in charge of HD research.

Vertex is reinforcing its commitment to HD families by co-sponsoring our chapter’s tenth annual Celebration of Hope Gala, set for October 22.

Taking in the moment

After saying good-bye and driving off in my car, I stopped a few yards down the street to get some pictures of a street sign I had seen on the way in. It said “Road to the Cure.”


(Photo by Gene Veritas)

Vertex is strategically positioned to help find that cure, I thought as I contemplated the sign.

It was 6:30 p.m., and all was now quiet at the heart of one of the world’s leading biotech corridors. I paused for a few moments to take in the day and what I had accomplished.

Then I got back in and drove off in the direction of the sunset.

Despite all I had relived that day, I felt a rekindled hope.

Living in limbo

People who’ve tested positive for genetic diseases but still don’t have symptoms find themselves playing a terrible waiting game.

I tested positive for Huntington’s disease in June 1999 at the age of 39. HD usually strikes people in their 30s, 40s, or 50s. My own mother, who died of HD at age 68 in 2006, started showing the psychiatric effects of HD around age 48.

So my symptoms could start any time.

Difficult to predict

With HD, the more severe the genetic defect, the earlier the disease starts. But doctors and scientists cannot predict the exact moment when a person will display symptoms. What makes this fatal brain disease even trickier is its variety and complexity of symptoms. Researchers are finding that the disease affects many functions, from those as subtle as the sense of smell to as basic as the ability to walk.

The disease also causes decline variably in different people. The normal course usually runs 15 to 20 years. But some people live a long time until the worst symptoms kick in, while others become helpless early on.

HD is caused by a single genetic defect, but researchers are searching for so-called modifier genes that might trigger onset. Environmental factors and lifestyle also may affect onset and the severity of the disease.

My own waiting game

So I have played the waiting game for eleven years.

Not long after I was tested, my wife and I noticed that my legs twitched at night as I would fall asleep. We panicked, because the first physical manifestation of my mother’s HD was uncontrollable trembling in her legs while in bed.

A physician with detailed knowledge of HD informed me, however, that many people have nocturnal twitching and that mine was probably not related to HD.

We were relieved, but, because the genetic defect eventually strikes all carriers, we know it’s only a matter of time before something begins to go wrong.

Subtle versus classic symptoms

Over the past decade I’ve noticed a decline in several areas such as short-term memory and reaction time behind the wheel. This could be HD – or simply the aging process. (I turned 50 last year.)

I did well at my last annual check-up with an HD specialist. I am still apparently free of classic HD symptoms.

But I’m also aware that the more subtle symptoms could be at work. And I know that the latest research demonstrates that changes in the HD-affected brain start occurring years before noticeable symptoms arise.

Feeling “cheated”

Recently I’ve been feeling angry about being in this state of limbo.

Don’t get me wrong. I’m very happy to be healthy. When I see other HD-affected people in my age group (40s and 50s), I feel blessed in being able to work, write, travel, and enjoy my family. I’m exercising, eating nutritious food, taking supplements, and keeping an active mind so I can try to stave off the symptoms as long as possible.

I’ll admit that sometimes I experience that little bit of death wish that we all do from time to time. During an HD check-up a couple years ago, I expressed amazement to the doctor that I had no apparent symptoms. “Be thankful,” he said.

In a weird way, I felt cheated. I had been preparing myself all these years for onset, and it didn’t happen!

It’s as if I’m preparing for a great battle, but the battle never comes.

I think what I really wanted was definition in my life about HD. I wanted to know how it would start and when. (I know that’s a narrow focus; onset will bring huge burdens to my wife and daughter.)

Powerful feelings

These visits to the HD doctor always unleash powerful feelings. I see individuals with severe symptoms. I know some of them and have seen them decline over the years.

I feel deeply relieved not to be in their situation.

And I feel sad and guilty watching them struggle with walking, talking, and the other basics of life that HD takes away.

A cruel joke?

Other times my imagination wanders into the territory of conspiracy theory. It goes something like this: the geneticist who gave me my test results made a terrible mistake and mixed up my results with somebody else’s. I am not really gene-positive! That’s why I don’t have symptoms!

A similar version gets paranoid: that geneticist wanted me to suffer and lied about the results!

“It’s a hoax!” I tell myself.

“Is this some kind of cruel joke?” I angrily ask myself. “I’m told I’m going to get a disease, and yet no symptoms have come. I keep wondering about it.”

Wanting to “resign” from HD

A few weeks ago, I daydreamed about writing a “resignation letter” from my volunteer position with the local chapter of the Huntington’s Disease Society of America (HDSA). “I’m tired,” the letter stated.

I felt especially resentful because I had just returned from a very enjoyable 32-day, 8,300-mile cross-country car trip with my family. I didn’t answer any HDSA e-mail during that time, and I put thoughts of the disease and our cause to the back of my mind.

After the vacation, however, the hard reality of HD worked its way back to the forefront. It’s time for my annual check-up, and also for the tenth annual HDSA-San Diego Celebration of Hope Gala, our biggest fundraiser of the year.

Commiserating with Michael Douglas

In late August I watched actor Michael Douglas reveal on national TV that he had stage-four throat cancer. My heart went out to him. But, as he put it with the characteristic Douglas family determination, he had an 80 percent chance of beating the cancer.

“At least there’s a treatment!” I thought. Good for him!

But then I immediately thought how there is a zero percent chance of beating HD – because there is still no treatment and even less a cure.

So, just as I think about HD practically every morning, so must I daily rededicate myself to the fight against it.

Fighting on a new level

Not coincidentally, I’m gradually and very strategically going public about my gene-positive status. In June I gave a speech in Brazil in which I came out to an audience of several hundred people.

Later this month I will make a presentation on my life with HD for a local biotech company, Vertex Pharmaceuticals, which researches the disease. It will be the first time I speak in public about HD to an American audience.

I really do wish HD were just a cruel joke or a bad dream. But as I think of my mom and all of my friends and acquaintances living with the disease or at risk, I know all too well that HD is real.