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
Brenda C
As a 28-year veteran special education teacher at Vandercook Lake Public Schools, I was looking forward to retiring in 2018. I had plans on working Read More…
Eric Petit
I was diagnosed ataxia in October 2021 at 60 years old The ataxia I am impacted is SCA2 This ataxia is well known in my Read More…
Brian G
Back in October of 2024 I was managing a hotel restaurant and came down 2 steps and just kept going without the ability to stop. Read More…
Cynthia Thibodeaux
I spent 10 yrs with a Dr who thought I had MS. After a visit to Mayo clinic in MN, I was told no MS, Read More…
Marina Parker
Oh boy, where do I start? At the beginning I guess…following neck surgery I developed a 4cm abscess on my left prefrontal cortex. I had Read More…
Freyglee Borges
I am from Venezuela, South America, I am 24 years old and living a “normal life” studying at university. My Ataxia is quite rare. I Read More…
