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
Roberta C
I am the mother of a child with SCA (type 14). My daughter who is now 12 had her first symptom when she was 5. Read More…
Ken
My Ataxia journey started some years ago. Even before I was diagnosed, my wife commented that I walked like “Tipsy Mc Staggers”, and I had Read More…
Julie Guillot
My name is Julie Guillot, and my son, John, has Ataxia. John’s journey began on January 19, 1998, just a few weeks after he was born. As Read More…
Terry Jr
My name is Terrence A Reed Jr, retired U.S. Army. I also served in four combat zones (1 Afghanistan, 3 Iraq). Now that I think Read More…
Tammie Hill
I have a genetic disorder called Batten Disease-CLN2. Doctors don’t know why I didn’t start showing symptoms until I was in my forties- this usually Read More…
David Brown
I was a high school baseball coach for 25 seasons and had a successful 20 years in as the Public Address announcer for all the Read More…
