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
William Tartaglia
My story started about four years ago. It has been a long road. Finally on the 13th of August 25 I was diagnosed with Ataxia Read More…
Sarah FitzGerald
In June 2024, I had a massive hemorrhagic stroke caused by an AVM. I was 23 at the time and working out at the gym. Read More…
Luís Frija
I’m 50 years old from Portugal and work in the contact center industry from home. My journey with Cerebellar Ataxia really began in 2018 when I received my Read More…
Amir
My name is Amir Hossein Bagerzade. I am 26 years old, and for nearly nine years I have been living with a rare genetic disease. Read More…
Jacqueline Ambur
“So what we think you have is something called autoimmune cerebellar ataxia.” Cool. Cool. Cool- No idea what that is. Countless blood tests, a few MRIs and a Read More…
Judith
As a child I experienced hypnogogic states REM dysfunction and night terrors. As I go older I developed sleep attacks and falling. I went to a sleep specialist and was diagnosed w Read More…
