Participating in research for Friedreich’s Ataxia (FA) is a choice that I have consciously made inside this disease that I did not choose. A choice that makes me feel empowered. And useful. And needed. I was diagnosed with Friedreich’s Ataxia 14 years ago and at the time, actually participating in a clinical trial would have sounded as foreign to me as my diagnosis. The other day I asked Dr. Susan Perlman, my brilliant and kind neurologist at UCLA, when I first began yearly participation in the FA Natural History Study (FACOMS); September 2005. About a year and half after my diagnosis, I had chosen how I would react to living with a rare disease like FA. And I still choose to react with action.
In 2005, I might not have completely realized the importance of participating in a research study that just seemed like a fairly routine annual doctor appointment. 13 years later, the gravity of this (and every) study is more than crystal clear. Every year, I get to spend time with Dr. Perlman as she checks my non-existent reflexes, the sensation in my fingers and toes, tests my core strength, my leg coordination, my speech, vision, etc. And then comes the really fun part…what seems like a hundred pages of a routine questionnaire (okay, I’m being dramatic…it’s probably only 20 pages). That is followed by a 9 hole pegboard test which has got to be the most unpopular of tests among FA patients. The plastic pegs feel almost impossibly slippery and my hands feel even more uncoordinated and clumsy. Oh, and it’s timed. The pressure is on and the frustration is high. But if it meant, treatment or a cure would be found faster, I would face that pegboard every single day.