You were diagnosed with adrenoleukodystrophy (ALD), a rare genetic disease that destroys the myelin sheath protecting the nerve cells in the brain, in your forties. When did you first experience symptoms?
For most people with this disease, getting a diagnosis is a long, arduous odyssey filled with tests and misdiagnoses. For me, it was a relatively short two years. My initial symptoms were problems with my legs. I had been incredibly athletic and outdoorsy. And everything suddenly declined. I started falling. I was clumsy. I was 43 but felt like an unfit 80-year-old. I also had problems with bladder control.
How were you diagnosed?
In 2010, I saw a movement disorders specialist, then a multiple sclerosis specialist, and had a bunch of tests, including a lumbar puncture. Then in 2011, I saw a neurologist at the University of California, San Francisco, who suspected ALD. A simple blood test confirmed his hunch.
What happened next?
I began researching the disease and learned that the person who discovered the gene for ALD was a Frenchman. I was born in France and moved to the United States in 1986 when I was 20 to attend graduate school. I emailed him, and he responded immediately and told me of a patient meetup in Paris. That's where I learned how wonderful and close-knit the rare disease community is. Even though I found myself in a sea of wheelchairs, which was upsetting at first, I realized I had found my tribe.
Is there a treatment for this disease?
For the type of ALD I have, there is no cure. Instead, I focus on my physical and mental health. I swim, do Pilates, and ride a recumbent bicycle. I try to hike every day. I use two canes and walk very slowly, but I keep at it. I've seen too many men with this disease stop moving and spiral down. [ALD is an X-linked disorder, meaning the gene mutation is on the X chromosome. Because women have two X chromosomes, one of which may be normal, they are less often affected.]
You say your life has blossomed since your diagnosis. In what ways?
In 2014, I established a foundation called ALD Connect with a small group of neurologists. Since then, we've raised enough funds to launch four clinical trials next year for which I'll be eligible. I also joined the board of the American Brain Foundation [the philanthropic partner of the American Academy of Neurology that funds neurologic research]. Although it focuses on the dominant brain disorders like multiple sclerosis, epilepsy, and Alzheimer's disease, its slogan “Cure One, Cure Many” interested me. There are commonalities across all neurodegenerative diseases. As a board member and someone who works in the high-tech industry in Silicon Valley, I've reached out to the biotech industry and have enlisted four companies that are actively working on the disease.
How has your family responded to your diagnosis? After the initial shock, they've all been very strong. It inspired my son Alex to study computational biology and focus on rare diseases. My wife has managed to strike the perfect balance between treating me the same and giving me a break.
You mentor others with this disease. What do you tell them? Many of them feel like their lives have ended. I try to show them, by example, that a new life has begun. I encourage them not to dwell on what they've lost but to find a new focus. This disease has renewed my faith. I'm always asking “What is a meaningful life?” and finding answers in what I do. My message is one of hope: Ten years from now, I tell them, you may be in a better place.
