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.

'More to lose than ever'

Living gene-positive for Huntington’s disease frequently distresses me as I worry about the inevitable onset of its destructive symptoms and the impact my illness will have on my wife and daughter. I have struggled mightily to cope – a theme of so many entries in this blog.

But, as so many at-risk people have pointed out over the years, the threat of Huntington’s also forces them to put life in perspective and live it more intensely.

In early 2005, as I was just starting this blog, an old friend best summed up my situation by contrasting it with his relatively care-free life: “I envy you. I feel immortal. I don’t believe I’m going to die. But you know you’re going to die, and so you can live your life more fully” (click here to read more).

Life’s priorities

I especially struggled this past week with fear and anger about HD. On September 13, I published “Living in limbo,” in which I described the harrowing “waiting game” that I and so many other people who have tested positive for genetic diseases face as we are forced to imagine a bleak future. (This is akin to what one gene-positive woman calls “genetic roulette.”)

I felt overwhelmed after writing that entry and reading the responses (posted comments, e-mails, and Facebook remarks) of other gene-positive individuals and their relatives.

Feeling a sudden urge to protect my family, life’s priorities flashed through my mind.

I recorded these thoughts in my blog notes:

Our job is to pass down our culture/history/values to the next generation. I feel this acutely. Just as important now to do daughter’s soccer practice as attend an HDSA-SD board meeting. Feel in my bones and my blood: our time here is limited and the prime directive is to guarantee the survival and success of the next generation. Nationally: get rid of debt. Locally: active in community. At home: prepare daughter [for life].

Personal growth

I awoke the next morning at 2:30. I was very agitated and couldn’t get back to sleep. Somehow I got through the workday with the usual good game face, but I didn’t get relief from the agitation and adrenalin rushes until returning from work in the afternoon. I turned off the ringer on the phone and took a long nap. I awoke feeling disoriented.

Luckily, on September 16, I had my bi-weekly session with my psychotherapist, the person who understands my mind probably better than anybody, especially after my mother became ill with HD (and died in early 2006) and my father, the Huntington’s warrior who cared for her for 15 years and died a year ago. Besides the usual worries about HD, I’ve become more anxious because of the approaching first anniversary of his death (click here to read more).

I told my therapist about the difficult feelings generated by the “Living in limbo” entry, including the huge transition I've begun as I become more public about my situation with HD. On September 24 I will make my first-ever public presentation about HD to an American audience. (Click here for an entry on the talk I gave in Brazil last June.)

As we worked together to sort out the painful feelings, we reflected on how I’ve evolved as an activist for HDSA, the Huntington’s Disease Society of America. She also pointed out how much I’ve grown because of the need to confront HD.

A valuable insight

“You have more to lose than ever,” she said.

I interrupted her and asked for a slip of paper to write down this phrase. Right then and there I decided that it would become the topic of my next blog entry.

“You’re right!” I said about her insightful comment.

It’s impossible to know how my life would be today if it weren’t for the threat of HD.

But I believe that I’m a better person in many ways.

Gaining perspective

To begin with, I have indeed gained perspective. The preoccupations of the past now seem like mere details, and I’ve calmed my tightly-wound personality considerably.

The other day my daughter was late for an orthodontist’s appointment. I patiently and quietly waited for her to get ready.

As we got into the car, she asked, “Dad, aren’t you angry that we’re late?” She was wondering why I wasn’t upset with her.

“Will getting upset make the minutes on the clock go backwards?” I asked her. She thought a few seconds and responded, “No.”

“Being late once in a while is okay,” I continued. “Ideally, we should be early for things, so that we’re not late. There are many things we have to be on time for, like school. But it’s not the end of the world if we’re late once in a while.”

In her words, a lot of times I “freak out” about things. But it’s happening less.

It was a small but valuable lesson.

With ever greater appreciation for the gift of life, I’ve become more sensitive to my family’s needs.

A multi-dimensional life

I also feel that I’m a more tolerant person. This helps in my professional relationships and in working with the HD community.

Indeed, my HD activism has built many more layers onto my life: blogging, website development, volunteer recruitment, advocacy, fundraising, the translation of research advances into terms understandable to the HD community, and the building of mutual support within the community. I sometimes feel as I’m living in several dimensions at the same time.

I’ve definitely improved as a writer, because living at risk for HD has led me to explore the depths of human emotions about life and death. I’ve felt the impact of the worst kind of denial, but also the utmost of courage and compassion.

As I’ve written on several occasions, confronting HD has led me to a clearer understanding of my religious faith. I now see faith as going hand in hand with the movement to stop HD.

I feel inspired to help others. I’ve pledged that when and if the cure for HD comes and I finally break free of its destructive shackles, I will channel my energy into another volunteer cause.

The secrets of life

In sum, I feel more mature and more aware.

I think I’m beginning to understand some of the precious secrets of life. Possessions, power, and fame in the end are irrelevant. Love, sharing, and dedication are what count.

Clearly I am far from perfect. Nobody is. I stand only near the starting line of this process.

But in reaching this point, I now have a clearer view of the great potential of my life yet to be unlocked.

The threat of Huntington’s disease has brought me a load of worries. But it’s also given me so much more to feel good about in my life.

I indeed have more to lose than ever, and that’s why I’m ever more anxious to prevent HD from cutting me off in my prime.

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.