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Patient Perspective: Stephanie's Experience Participating in a Research Study

PatientPerspective SM1Participating 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. 

PatientPerspective SM2The FA Natural History Study might sound a little inconsequential and un-impressive BUT it’s importance is big. Why? I figured Dr. Perlman could explain better than me, so here’s what she had to say:

“The FDA has long recognized the importance of natural history studies for the development of orphan drug treatments for rare diseases. Natural history studies can track the natural course of disease over time; identify demographic, genetic, environmental and other variables that correlate with disease symptoms; validate the best ways to measure disease symptoms; and contribute data in addition to drug development, e.g. best patient care practices and research priorities. Natural history studies engage all stakeholders (researchers, clinicians, patients, and support organizations) early and on an ongoing basis. The Friedreich’s Ataxia Natural History Study (FACOMS) has been running since 2002. It is now the foundation for six clinical drug trials and more to come.”

Now that sounds pretty significant, right? If you haven’t participated in the FA Natural History study yet, I encourage you to consider it. If you are already participating, thank you! When we choose to react with action, our combined motion is an unstoppable force. TOGETHER, we will cure FA! One peg hole at a time. ;)

If you are interested in participating in the Natural History Study, please contact a study coordinator at a CCRN site near you.

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