Ataxia

What is ataxia, and how does having it affect my day-to-day life? 

I have one of many forms of spinocerebellar ataxia (SCA), which is a progressive, degenerative, genetic (inherited) neuromuscular condition. There is not yet a cure or a treatment for any of the SCAs. The word "ataxia" is Greek, meaning "lack of order" or uncoordinated. What "spinocerebellar" means is self-evident: something is happening to my spinal cord and cerebellum. MRIs taken in 2012 show that my spinal cord is atrophying and also shedding myelin protecting the nerves inside my spine and also that my cerebellum is slightly misshapen, a condition called an "Arnold-chiari malformation." These MRIs led my neurologist to suggest that I have one particular type of ataxia: Friedreich's ataxia. Only a genetic test (expensive to conduct even with the help of insurance) or an autopsy (something I want to put off until very very very far in the future!) will identify with certainty which type of ataxia I have. 

In my day-to-day life, my lack of coordination is evident to outsiders in how I walk and stand. Every moment, I experience life feeling as if I am on the edge of a fall, not a dizziness like a child spinning him or herself around (a continuous sense of vertigo like that would drive me into a fear-filled madness), but the same sensation that anyone has when they are about to fall off something, like a cliff or a building. A "normal" person can lean forward or backward or even to the side, even on one leg, quite far without falling--for exaggeration's sake, picture Buster Keaton in a silent movie held in place by his boots with his face almost kissing the ground--I can't. If I tip over as little as 10 degrees off center, I fall. If I lean over in a chair to tie my shoes, I may fall off the chair--and not head-first. It would look like a ghost had kicked the chair from under me. Anyway, it certainly feels like I may fall, most of the time, even in my sleep, so I adjust my life away from that danger. I walk with a cane, and when standing I will usually stand very near to a wall or the back of a chair or another human being. (I regularly thank my many friends who let me allow them to hold me upright, but I have grabbed strangers' shoulders.)

I am still able-bodied, but because of my slow walking pace, I find that I need to remind people of this. A group of friends and I were recently moving some chairs and tables from one room to another and I picked up a lightweight wooden coffee table (really, there are coffee table books heavier than this piece of furniture), braced myself, and started walking with it to its new room. I did what I always do to walk, whether or not I am carrying furniture: steady myself, push off with my right leg and start counting. Steady pace, little effort, I've got this. Of course, the counting, the slow pace, and, okay, the almost-immediate tilt into a wall, looked to one friend like something else entirely, and he "came to my rescue" and grabbed one end of the table to assist. That caused trouble, as I could not adjust to his different pace, and I let the table go.

The other aspect to ataxia, which makes any quick adjustments to the continuous balance challenge quite difficult, is the slow, progressive loss of motor control of my extremities, starting with my legs. I can not predictably or reliably move either leg to a particular spot on the ground. Every step I take is either a gamble or a guess. I can no longer run or jog (not that I did either of those much, anyway) or walk fast, as I do not have that level of control of my legs. Sometimes, I fall because my left leg will move when my right leg was supposed to. I do not fall very often, not yet, as I have done pretty well adjusting to the condition.

My upper body has not yet been affected, meaning my arms, not anywhere near to the degree that my legs have been. In the future, this may change. I can move items from one spot to another pretty reliably. One other area affected by ataxia is my heart. An enlarged heart muscle (cardiomyopathy) is also one of the most common symptoms seen with ataxia, and I have an enlarged and weakened heart, congestive heart failure, and a potential for arrhythmia.

There are a total of several dozen identified SCAs and medical understanding of the condition has only truly developed in the last 20 years or so. It is estimated that one in every 100,000 people are diagnosed with a form of ataxia; many more live out their lives without a diagnosis. Each day, I am aware that I have a condition; the challenge is to make certain that the condition does not have me.