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.”
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)
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.