This week was the official launch of the CMT Research Foundation (CMTRF). Its single focus is to deliver treatment for this disease, and I have agreed to serve on its Board of Directors.
The decision to join was easy, because the founders of the CMTRF, Susan Ruediger and Pat Livney, share my vision: find effective treatment now. They are passionate but also pragmatic. They know that it will take a lot of money, plus collaboration between the worlds of research, biotechnology and pharmaceuticals. And I think that they have the resources and drive to get it done.
My motivation for joining is professional and, of course, deeply personal.
As a neurologist, I know that CMT is really not that rare, and it’s becoming less and less mysterious. Breakthroughs are coming through for other neurological conditions – so why can’t it happen for CMT?
Take multiple sclerosis (MS), for example. It affects about the same number of people as CMT (2.3 million patients worldwide vs. 2.6 million for CMT). It was also discovered around the same time– and by the same person. (Dr. Charcot, in the 1860’s).
When I finished neurology residency ten years ago, we had three disease modifying medications for MS. Today, there are ten. With CMT, it’s zero and zero.
The progress made with MS treatment is wonderful, and it is inspiring. We need the same for CMT, and in this era of genomic medicine, there has never been a more promising time — but we need the research and we need the studies.
On the personal side, it’s about hope.
I hoped for many things as Julianna’s mom, but I couldn’t hope for a cure. We were too many steps behind on the science, and I knew that ours wasn’t going to be that kind of story.
Today, my hope is for other families affected by CMT, now and in the future: may your story be very different from mine.
We must accept finite disappointment, but never lose infinite hope.
–Martin Luther King, Jr.