ALS TDI to MGH: The first step in my PMP experience

Massachusetts General Hospital

On Monday, September 29, we were driven the short distance across the bridge to Boston from ALS TDI in Cambridge to a clinic at the Massachusetts General Hospital. I was there to have blood drawn that would be used to map my Genome, and have some skin tissue harvested to be used in creating my personal line of stem cells. All this as part of the Institute’s drive to find solutions for ALS through its Precision Medicine Program research using induced pluripotent stem cells (iPS technology).

Dr. Steve Perrin: Mapping the Genome & Creating Stem Cell Lines

I had a good notion what was going to happen. I’d been thinking about that moment often, from the very first conversation I had with Dr. Steve Perrin at a Corey’s Crusade fundraiser in Oakland last year. Dr. Perrin and I had just met, and I was amazed by what I heard from him: ALS TDI , in its drive to find treatments, was designing research that would use the mapping a patient’s genome, creating personal stem cell lines from skin tissue, growing nerve and muscle cells, by the millions, and testing thousands of medicines to see their possible effect on the cells. It sounded like sci-fi. A few years ago it would have been, I suppose. One thing I knew at that instant: I had to be a part of it.

Initial ALS Diganosis - Intial Commitment to Help

When I was first diagnosed with Lou Gehrig’s Disease over two years ago, my partner Ben Trust and I almost immediately made the commitment that we would seek any opportunity to help find treatments, or a cure, for ALS. We had no idea how trials were done, by whom, or where, but we were sure I should be a part of one, or, perhaps, more. It wasn’t so much that we were hoping I would be cured, for we had no clue how much time I had left, but that we had to find meaning by taking the power away from the disease and using our energy to beat it.

My particular version of a disease is clearly moving slowly. Ben and I had been given the gift of time. So, a year after we met Dr. Perrin, ALS TDI had cleared all governmental hurdles, was launching the research and I immediately applied on the website. Suddenly, there we were in a car on our way to MGH to take the first step in fulfilling our commitment.

Genome and Stem Cells

The procedure was quick. No more than a minute or two to draw a couple of test tubes worth of blood; A few more to anesthetize a small section on the inside of my right arm to prepare to get a bit of skin. Again, I found the science to be fascinating. I watched as the doctor used what looked like a pencil with a hollow point to, quite literally, bore into my arm, leaving a neat circle. There was not much blood as she pulled on skin in the center of the circle, brought out some tissue and snipped it, carefully dropping it into another tube. It was tiny – a pinhead of living tissue. The application of an adhesive bandage marked the end of the procedure. Total time: no more than ten minutes.

I was so mesmerized by the procedure itself that it was not until later – right now really, as we fly back to California from Logan - that the enormity of that moment hit me. That tiny bit of me, so insignificant in its appearance, had the potential to help unlock the mystery of a deadly disease. A disease so feared and hated, so merciless in its progression towards death, so elusive in divulging its true nature. And, yet, that part of me now sitting in the ALS TDI lab could indeed be of incredible significance, not only to me, but to so many.

Gratitude & Hope

I am as amazed and in awe of the science now, as I was when Dr. Perrin first shared it with me over a glass of wine; In fact, even more so now. At the same time, I am so honored, grateful and humbled by the opportunity to have a part of me be a part of this. Ben and I continue our commitment to help find a solution. I sit here jetting home across the country, hoping, for all of us now living with ALS and those who will be diagnosed tomorrow, that my tiny contribution of cells turns out to be a huge step forward as we go Beyond ALS.