My Story of Spinocerebellar Ataxia

Tears were streaming down my mother’s face when I first heard the words Spinocerebellar Ataxia. She was 38 and had just been diagnosed with the disease. I was a girl at the time and although I’ve never forgotten the experience, I didn’t fully comprehend that two words could be so fateful for both of us.

My mom and I right before her diagnosis.

Over the course of the next several years I witnessed the progression of the disease as it took hold on my mother. An unsteady gait, poor coordination of her hands, slurred speech, and tremors were visible signs as was her reliance on a cane, then a walker, and eventually a wheelchair.

Spinocerebellar Ataxia is a hereditary disease and there was a 50/50 chance that I had it. As I grew into my independence I decided that testing was a necessity. While not the most popular thing to do among my family members …”you’re too young, don’t worry about this now, you’ll stop living your life if you find out …” I chose to find out if the odds were on my side. At this time I had just graduated from college and was engaged to be married.

Mom and I celebrating my college graduation. A few weeks later I would learn of my diagnosis.

I remember sitting with my mother and the Neurologist to discuss testing. Filled with both fear and hope, I watched as the doctor read from a reference book to learn more information about the disease, previously unfamiliar to him.

And so it wasn’t by chance but by choice that at age 23 I was diagnosed with Spinocerebellar Ataxia Type 2.

How did I react?  All the dreams for my future, while still available, had a cloud of uncertainty surrounding them. With tears, frustration and a resolve to keep living life to its fullest, I did my best to focus on the possibility that when I did start to see symptoms, there would be a cure.

For the following fifteen years, I chose not to tell anyone, other than my fiancé and immediate family, of the diagnosis. Even as I write these words there are only a handful of people who know about my ataxia. Why? I’m not sure why. Would acknowledging the disease give it more power over me? Was I ashamed? For whatever reason, my reservations held me hostage.

After turning 38, I started noticing changes. A stumble here or there, poor coordination at times, and slurred speech. Things probably not visible to the human eye, but things I could definitely discern as being different.

Knowing it was time to take action, I consulted with a Neurologist here in Bend, Oregon. Of course I had a million questions. Sadly, he didn’t have any answers. In fact, the doctor summarized my situation by saying, “it’s just darn bad luck”.

Me, now at 38, hopeful about the future.

Good thing I don’t give up that easily. Researching Ataxia became my hobby and my obsession. What I found out is that while treatment programs aren’t available here in the United States, there are programs overseas applying Stem Cell Therapy on Ataxia patients with some success. While not a cure, it’s hope.

There isn’t a day that goes by that I don’t think of this disease and its potential effect on me … I now have the opportunity to do something about it. Bangkok here I come!


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