THE BLOG

Waiting for a Breakthrough -- One Person's ALS Story

06/12/2013 03:21 pm ET | Updated Aug 12, 2013

I was enjoying a great life in Manhattan as a marketing executive until one sentence forever changed my life: "You have Amyotrophic Lateral Sclerosis." ALS, or Lou Gehrig's disease, is merciless: it shuts down your ability to move, one limb at a time, but allows your brain to remain intact. In the worst cases, people describe it as being buried alive in their own body.

In 2005, the time of my diagnosis, doctors gave me between two and five years to live, the typical diagnosis for an ALS victim. Of course, my partner and I did not want to believe this. We were told, and wanted to believe, it could be other things - Lyme disease or a non-life-threatening auto-immune disease. Of course, I wanted to think that this is one big mistake.

But the nightmare known as ALS continued to haunt me and take over my body. The weakness and coordination problems got worse and I started to have trouble walking. When I fell down on the sidewalk and broke my collar bone, I knew it was time to leave my career in fragrance marketing and fight for my life.

My muscles were turning to jello, but my brain was in overdrive. I had to find answers and wake up from this nightmare. I researched experts in the field and found Dr. Robert Brown, a world-renowned, fearless ALS pioneer who is conducting cutting edge research alongside Nobel Laureates.

From Manhattan to Boston: Hope for a Cure
In 2008, three years after my initial diagnosis, my partner and I left our life in NYC to move to Boston, Mass., to receive treatment from Dr. Brown. I understand from my work with Dr. Brown that I probably have a mutated gene affecting my motor neurons. So, last fall I was honored to visit the National Institutes for Health (NIH) to give them 26 vials of my blood (among many other tests) to help researchers understand why my case is so unusual. They are now working to find the gene most likely causing my ALS. At the same time, Dr. Brown and other experts are working on a therapy to "silence" those mutated genes that are causing ALS, researching answers that will lead to a cure.

But support for ALS research is hard to come by. ALS is known as an orphan disease, meaning it's a rare occurrence, especially compared to cancer. However, more than 30,000 people are affected by ALS. While the disease strikes people mostly ages 50 - 60+, young people are being diagnosed and more people are living longer with ALS. Yet, few major health-related corporations are supporting ALS. One exception is CVS/pharmacy, who, in the past 11 years, has managed to raise more than $30 million in partnership with the ALS Therapy Alliance, to fund breakthrough research like gene silencing therapy.

Now, the question... if some people, including doctors, say there's no hope to cure ALS, then why spend money on research? Here's my answer: me and the thousands of other ALS patients who DO have hope.

I am a fairly healthy, functioning person still living with the disease. Sure, my life is different than it was eight years ago, but it is still a good life. I get up every morning, work on my iPad, run my household, feed myself using a robotic arm built by engineering students at UMASS-Lowell, and I enjoy my family (my partner and two cats). So far, my breathing and food consumption is fairly stable; I don't need a feeding tube or breathing assistance. I exercise with my trainer several times a week and can still walk with the support of another person. That's pretty good since I am not even supposed to be alive!

I will continue to live day by day and try to stay healthy. I will enjoy the positive moments that life has to offer and carry the hope that a breakthrough will happen in my lifetime.

I strongly believe that a cure for ALS is coming and research is the key to ending this nightmare for me and the entire ALS community - once and for all. If all of my efforts with Dr. Brown and the NIH come together, there could be a small miracle - a cure for this terrible disease. It could be me. Why not?