My journey to diagnosis of Spinocerebellar Ataxia has not been an easy one. There had been plenty of sleepless nights as I allowed my mind to wonder and play the “what if” game. I tried hard not to get caught up in all of the chaos , but there was a lot of uncertainty in what was wrong with me. I was starting to get scared. I have heard so many times in the last couple of years that the “not knowing” is the hardest part. However, it wasn’t always that way.

When I was in my early to mid thirties I had decided that I was not at an ideal weight
and wanted to do something about it. My wife and I started walking everyday. We did this for at least a year before I recognized that I was starting to get into pretty good shape. I started training to run and eventually ran in a half-marathon. Over that course of time I had lost almost 90 pounds and was by far, in the best shape of my life. Eventually, I stopped running everyday but tried to get to the gym at least every weekday. I felt invincible.

When the symptoms first started, in April or May of 2019 I had a hard time explaining what I was feeling. My wife was in the medical field at this time and I remember trying to tell her what I was going through and experiencing. The best I could describe it, at that time, was that I had an unusual feeling in my legs. I described it as weakness. I also noticed some difficulty speaking sometimes, with my speech getting very slurred at times. I had recently accepted a management position in my field of automotive service and repairs. I was enjoying much success, reaching a sales goal that had never been reached for that particular dealership in my second month there. My team and I had a lot of success in the first year setting several sales records. Life was going great!! I was enjoying much success professionally and I was thriving not only financially but physically.

We decided to have things checked out, so we scheduled with my doctor. He
scheduled me to have several tests including MRI and Cat scan. The testing didn’t
reveal anything remarkable other than some white matter that was determined to be
normal. Then, the symptoms disappeared and didn’t reoccur until April or May of 2022. When familiar symptoms started to reoccur, it made my job difficult. My job at the time was not extremely difficult from a physical standpoint, it was definitely more mental than physical, however, my day usually involved 10,000 to 12,000 steps. It became increasingly harder and harder to just get around without worrying about falling and communicating with customers and co-workers. My wife was getting concerned as well because it was not getting better. At the urging my family and co-workers, I went to the Emergency Room in November of 2022. I had several tests over the course of four days before I was released and informed to reach out to the Neurologist that was involved. I had scheduled for further tests and was referred to another Neurologist.

Luckily, I ended up at the Cleveland Clinic. It took several tests over the course of 14
months before it was suggested that Genetic testing be done. My DNA was sent to the
University of Chicago where it was determined that my issues were a direct result of
Spinocerebellar Ataxia Type 27B. I did not know what the diagnosis meant and how it would effect me. I am learning as much as I can to deal with this condition as it pertains to everyday life. I have not been able to go back to work because of my issues with walking, balance, slurred speech and fatigue. I have fallen more times than I can
remember and have had injuries to my ribs, tail bone, and back. I have recovered from those injuries and have tried to learn how to be more aware of my surroundings to avoid the falls. However, as much as I try, it doesn’t always stop the fall. I haven’t worked since November of 2022.

I am so thankful to my wife and family. The amount of support that I get is abundant. My wife has made it her personal mission to make our house as safe as possible including a stair lift (thanks to my sister and brother in law) and so many grab bars that I lost count. In the grand scheme of things, the diagnosis could have been so much worse. Although I am unable to work, I consider myself lucky. My wife, children and their spouses or significant others, siblings, parents, aunts and uncles, former coworkers and friends have shown a tremendous amount of support.

I also want to thank NAF for putting this information out there. I didn’t know much about SCA27B but thanks to the National Ataxia Foundation I am able to research and read about this progressive disease.