In medical school, one of my professors told me I had a gait disorder. I told him, “No I don’t!” Well, he was right of course. 20 years or so later I found myself unable to run, and gradually noticed weakness in my quads and legs, and eventually a very awkward gate. I’ve been so busy as a family physician that I ignored my symptoms for a long time. MRIs of my head, neck and lower back were all negative, so I thought, “maybe it’s all in my head.” Eventually my gait became so awkward that I saw a neurologist at UW, who referred me to a neurogeneticist. After two rounds of genetic testing I found a diagnosis: POLR3A- a very very rare form of ataxia.
When Were You Diagnosed? Which Type (If Known)?
I was diagnosed in 2021 with ataxia, and my neurologist found the genetic type in 2022.
How Has Ataxia Impacted Your Life?
Hearing other stories of ataxia patients, and being a family physician who has seen a lot of scary diagnoses over the years, I am VERY lucky. I am still working 3 days a week, but no longer make the long trek down hospital corridors and have stopped doing a few procedures due to a mild intention tremor. I no longer walk far or hike, but I do swim regularly.
How has NAF helped you or your family?
The annual conference in 2022 was terrific.
What is Your Ataxia Story?
As an organization dedicated to improving the lives of those affected by Ataxia, we believe that each story has the power to inspire, connect, and empower others. We invite you to share your personal Ataxia journey with us.
Are you here to read the personal stories, but haven’t yet joined as a member? We hope you find comfort in reading about the experiences of others on their Ataxia journey. We invite you to join as a member to receive a new member story each month. It’s free, and you’ll be kept up-to-date on the latest developments in the Ataxia community.
Recent Member Stories
Shaun Wesley Best
My Ataxia journey began in 1978, following a three-month coma I experienced the year before, at age 12. Since then, I’ve faced significant balance challenges Read More…
J.C. Myers
Ataxia comes as a dominant gene through my great grandfather, Ernest, my grandmother, Ernestine, and my mother, Leslie. My mother’s brother died young and we Read More…
Susan Harding
I’ve been living with a genetically acquired Ataxia since birth but was only clinically diagnosed in 1992. My mother was diagnosed in 1976. Her brother Read More…
Keith Heiken
I am 62 years young. I was diagnosed with SCA8 when I was 24. Dr. Byrd took a skin sample to help with other types Read More…
Sarah Altis
It started about 12 years ago. My dad was diagnosed with Ataxia. I wasn’t really sure what that meant, but I spent the next several Read More…
Bella
I’m Bella and from China, thanks to this platform so I could share my story here. My diagnosis was very easy, not that complicating. I Read More…
