I spent a considerable amount of time at the Johnson City Medical Center with bunches of evaluation from the Quillen School of Medicine (ETSU). Many trips down to Johnson City from Marion. Geneticist, Endocrinologist, Neurologist, Poke and Prodologist and it seemed like everyone else in the area.
I had previously posted that I'd been diagnosed with Adult Onset Cerebellar ataxia...little did I know that there are dozens of types of ataxia. This summer my symptoms were getting worse...trouble swallowing, tremors getting worse and falling more. My neurosurgeon wanted to get to the bottom of the problem. Was it genetic? Was it acquired thru injury to the cerebellum? Was there something physical causing it? If it was something that could be corrected then lets see if it can be corrected.
I agreed and we started...the only gap in the time was a 5 day camping trip to WV that was a family event.
The result was I have what is called Spinocerebellar ataxia 5...inherited from my Dad's side of the family...hell they could even trace the gene. I had a procedure on my esophagus to help with my swallowing, I'd already had the Laminectomy on my lumbar area (L3 thru L5) that was successful and I've had my medications tweaked to help with the tremors and shakes.
That's the upshot. Nothing that can really be done but treat the symptoms when they crop up. I'll just have to live with it. The good thing is it isn't a wasting disease like ALS. It's not curable. I'm now relegated to a rollator...anything over 50' walking distance is very difficult for me. If the ground isn't flat forget about it, stairs are verboten and even inclines (like a ramp) can be difficult. Pain isn't an issue and my mind is still sharp-ish.
The doctors say that it shouldn't affect my lifespan but will have some affect on my quality of life in later years.
So that's it for me...how's it hangin' folks?
https://rarediseases.info.nih.gov/diseases/4953/spinocerebellar-ataxia-5
