“Fred’s tax, what?” The nurse stood over me as I sat in the exam room.
I giggled and rolled my eyes. Time to educate another medical professional. I drew up my breath to be sure my voice was clear. “Friedreich’s Ataxia.”
The mouse-like woman’s face was blank like she still didn’t understand.
“It’s rare.” I wanted, (but not really), to make her feel better for not knowing about the disease I had intimate knowledge of for thirty-one years.
Friedreich’s Ataxia or FA is a genetic neuro-muscular disease. Most people are diagnosed between 5-18 and have scoliosis. Ataxia is basically a loss of coordination and balance. As a result, walking becomes difficult, and often the use of a wheelchair is necessary. Speech slurs and fine motor skills deteriorate. Some have heart problems, vision loss, and diabetes. Fatigue can be a factor as well.
The rate and severity of progression differ in every person. Some start using a chair within 3-5 years, others take 10+ or may never get there.
My experience has been pretty textbook minus the cardiac issues, diabetes, and eyesight. I used a walker three years after my diagnosis and a wheelchair six years after that.
Some people living with the disease have a greater understanding of the technicalities. I do not. It’s never interested me.
What I know are these generalities:
- Both parents must be carriers of the gene
- People with FA do not produce frataxin—a protein that helps with mitochondria function
- Adult or late-onset FA is possible
- For more info visit Friedreich’s Ataxia Research Alliance, FARA, at curefa.org.
Those are the generalities of the disease that forms the majority of the context of my life and writing.
Until the next
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