WE MOVE
204 West 84th Street
New York, NY 10024
E-mail: wemove@wemove.org
wemove.org • mdvu.org
Living with SCA-5
Be patient, positive and persevere.
– Jeff Stahl
I am a 44 year-old male that has been confined to a wheelchair for nearly 25 years. I have recently been diagnosed with Spinocerebellar Ataxia Type 5 through DNA blood testing. The disease has progressed over the years making it difficult or impossible to perform the most basic human physical functions. I used to lift weights and exercise, which seemed to maintain disease progression at a plateau. Now, I am unable to perform most functions on my own, and am now on prescriptions for a heart condition as well as have a pacemaker/defibrillator installed that further limits my physical capabilities.
Being a genetic disorder, SCA-5 is in my DNA; thus a cure would seem impossible. I am more optimistic than that as medical research has really advanced in such a short time. For example, the mapping of the human genome and continued multidisciplinary research through the J. Craig Venter Institute in Rockville, MD and La Jolla, CA. More recently, we have witnessed the opening of The Ataxia Center at Johns Hopkins University. I am still quite disappointed with this country’s health care system. It seems that symptoms are more important than the actual problem, and it seems that if there isn’t a pill or surgical procedure available to remedy the symptom, there is nothing that can be done.
I have donated my blood sample to the University of Minnesota Genetics and Neurology Departments that are performing a joint research project into SCA-5. They have reported that my mutation is a ‘variant of unknown significance’. I have also registered with the Cooperative Ataxia Group.
Background
I first noticed a problem in late 1982/early 1983 when I was in high school. I began having balance trouble, thus using walls, etc. for support, and was beginning to fall often. I sought out medical attention. Locally I was told I had cysts in my knees that needed to be removed. Yet another local doctor advised me that I could have a brain tumor.
Then my father took me to the Mayo Clinic in Rochester, Minnesota, where I went through extensive diagnostic testing. After all the results were in, they concluded that I had a peripheral neuropathy. In laymen’s terms they explained to me that the sensory nerves in my deep muscles and joints had deteriorated. They advised me to keep doing whatever I could for as long as possible. They told me that there was nothing they could do for me.
I graduated high school and continued working and going to college. At this point, I was still walking and exercising. In 1990, my symptoms of SCA-5 progressed. It became more difficult to walk, so I began to use a walker. My vision became harder to control, making driving uncomfortable. My dad took me back to Maryland to live with my parents. In May, I met with neurologists at Johns Hopkins. They agreed with the diagnosis from Mayo Clinic after reviewing the test’s results. The only additional test they performed was a muscle/nerve biopsy. They explained the results as showing that my muscle tissue was fine, but my nerve cells were replaced by dummy cells. They called my condition, Spinocerebellar degeneration. Again, I was told there was nothing they could do for me. Johns Hopkins urged that I would be safer getting around in a wheelchair. I met with a Social worker, and with her recommendation, I applied for disability benefits. I proceeded to graduate from college and begin my career as a computer programmer. I, again, was a productive, tax-paying citizen. I continued to exercise and lift weights. After several moves and job changes, things turned for the worse in 2003. After driving with hand controls, my drivers license was revoked. I was left jobless even after the EEOC tried to get me reinstated in a “work from home“ capacity. I live with my mother and I feel like I have lost everything in life. I can’t exercise like I used to because of my lack of physical ability or doctors’ orders due to my heart condition. This is my current state.
