Misunderstood disease in dire need of funding and research

When I was in high school, I had a friend who was often mistakenly accused of being drunk. He stumbled around campus, hanging on to walls for support, and talked with a slow slur that was difficult to understand at times. The other students didn’t understood why he acted this way, and they shunned him for his abnormal behavior.

My friend and I were in a dark room photography class together when he first told me that the doctors thought he had ataxia. He said that he couldn’t go into the dark room with me because when he was in total darkness he felt like he was flying through space and didn’t feel connected to his body anymore.

Ataxia is a neurological degenerative disorder that affects coordination. In fact, the word ataxia literally means “without coordination.” Patients can have trouble balancing, moving any or all parts of their body, and often have irregular eye movements. Their speech is often impaired as well.

Patients usually develop ataxia genetically, though in some rare cases it has been brought on by constant alcoholism or eating gluten. It is diagnosed using family history, brain scans, blood tests, and clinical testing to look at motor and eye movement coordination. Usually, since it’s genetic, it develops in childhood. But one kind, Friedreich’s ataxia, sometimes has onset symptoms during adulthood.

Because it is a degenerative disease, it worsens over time and can eventually lead to death depending on the severity of the ataxia and when symptoms start showing. Death is often due to cardiac failure, respiratory complications or choking since the muscles involved in swallowing are impaired.

Even though we often know what is causing the problem, we still don’t know how to fix it. There is no cure, or even really treatment, for any of the ataxias. The best recommendation we give to patients at the clinic is to participate in physical therapy to extend their lives by a few years. Not much research is being conducted, since it is a rare disease and only affects around 150,000 Americans (a disease that affects 200,000 or less individuals is classified as a rare/orphan disease).

Because it’s so rare, I was so shocked to find a club dedicated to the study of ataxia when I first came to Hopkins. I joined the Ataxia Ambassadors freshman year and now serve as the president, but it seems that no matter how much I advocate for our cause, I cannot get people to understand what it is. I’ve had people ask me if ataxia is a cult, and even my parents and friends ask me repeatedly to explain it to them.

My friend has already been confined to a wheelchair at age 20, which is common for FA patients, and cannot walk anymore. He has to physically lift his legs up to move them and he can’t stand up without support. It is a fast-moving disease and FA patients usually die in their 30s, completely helpless and trapped in their bodies, not unlike patients suffering from Lou Gehrig’s disease.

Unfortunately, there is so little I can do in the meantime. The Ataxia Ambassadors club advisor, Dr. Sarah Ying, often tells us that spreading awareness is one of the best things we can do for patients, so that’s what I try to do. The club hands out ataxia awareness t-shirts, holds fundraisers to raise money for research, and goes to the Hopkins Ataxia Clinic to work with the patients and learn all that we can about the disorder. I also tell everyone I know about it, even if they don’t want to hear it. I just can’t stand to think that my friend is dying and I can’t stop it from happening; I have to do all that I can to save him.

Until we find a cure, I am going to keep doing my best as a student to spread awareness and raise money. Hopefully someday I’ll go to medical school and when I get my license I will really be able to make a difference. In the meantime, I can only hope that I am making a difference in my friend’s life. If he really only has ten years left to live, I’m going to try to make them count.