You’ve read a lot about ME/CFS and a bit about fibromyalgia and Reynaud’s disease on this blog, but today a friend of mine, Beth Koenigsknecht, takes the floor to describe her chronic illness, Friedrich’s ataxia. Here’s what she wants the world to know about her experience with it:
I was diagnosed with Friedrich’s ataxia and it was genetically confirmed when I was 15. Now I am 33 so I have officially had Friedrich’s for 18 years. However I was diagnosed with heart condition at age 12, which unbeknownst to me was an FA symptom, and was having balance difficulties, so technically I have been FA symptomatic for 20 years. FA is pretty rare so I would be surprised if you had heard of it.
Typically Friedrich’s ataxia presents in adolescence which can be anywhere from age 12 to age 18. I know of specific patients showing symptoms as early as age 5 or as old as their 50s but those are not very common. I followed the typical route by being diagnosed with a genetic blood test at age 15 prior to my physically confirmed cardiac condition at age 12. So I started at age 12 having to take a pill every day and go to doctors which actually jumpstarted my interest in science and desire to be a doctor myself.
My activity level was accordingly restricted so that essentially meant that I was not allowed to play sports or run around. Which actually fit perfectly with my bookworm status and focus on academics. I preferred to curl up and read a book rather than play outside and I was content not being able to participate in gym class at school where I was allowed to work on my homework instead. And so the next two years went by swiftly until I turned 14 and really started to notice balance difficulties and what I thought of as muscle weakness. My pediatrician agreed and referred me to a physical therapist so that I could work on strengthening. Suffice it to say that that was the beginning of my neurological stuff that resulted in me being diagnosed with this unpleasant disorder that I had never heard of at the time called FA. But again with only 6,500 of us in the US alone and a very minuscule sliver that is practically unnoticeable of the world population in general, is not uncommon to not have heard of it.
I have bounced between interest in science, writing, and art through the years. My bachelor’s degree is in neuroscience, followed by a master’s degree in English. I worked as a writing tutor for college students for those five years and then I taught just one writing class during the fall and spring semesters at a community college for the next two years. By then I had discovered that the disorder which initially I thought was not so bad, really just kept getting worse ever so slowly yet at an alarmingly steady pace. It is horrible but what makes mine so different from others is that in FA you remain cognitively intact, yet continue to physically deteriorate until you die in a shortened lifespan.
Darla copyedits biomedical research while living with an invisible chronic illness.