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
Lillian O’Connor
I was diagnosed with Gluten Ataxia Disease 2 years ago. I went to every specialist and checked myself into the hospital for tests. I had Read More…
Marybeth Barker
Shortly after returning from a once in a lifetime vacation to Turkey in 2010, at age 58, I began to experience odd neurological symptoms and Read More…
Neyveth Duarte
My name is Neyveth Duarte and my dad was officially diagnosed with Ataxia earlier this year. My dad is my hero and he is going Read More…
Adam Nelson
I grew up in a small & rural town of about 3,500 people in central Minnesota. I was raised in a blue-collar middle class home, Read More…
Ataxia Connection Travel Grants Bring Over 50 Attendees to the 2025 Annual Ataxia Conference
Submitted by Theresa Nelson, Executive Director at Ataxia Connection It is an exciting opportunity for our organization, Ataxia Connection, to travel and attend the Annual Read More…
Finding Connection at the 2025 Annual Ataxia Conference
Submitted by Mark Holdenried Attending the 2025 Annual Ataxia Conference (AAC) in Las Vegas was a meaningful and energizing experience. From the travel experience to Read More…
