My least favorite cases are staircases. My least favorite ways are stairways. My least favorite air is a stair.
The photo above (not at all) accurately depicts (for reasons of comic exaggeration) what every staircase resembles in my mind’s eye. Including the one in my home. It is life with mobility impairment. Once upon a pair of teenage legs ago, I took stairs two at a time.
In 2012 my first neurologist, Dr. M, diagnosed me with late-onset Friedreich’s ataxia, or at least he reported that he felt I have a form of spinocerebellar ataxia (SCA), a disease that has dozens of forms and is genetic in origin.
He was replaced. My second neurolgist, Dr. K, reviewed the first doctor’s extensive notes and looked at me. “You don’t have Friedreich’s ataxia.” (Dr. M was not much for granting eye contact, so this moment of direct conversation surprised me.)
Dr. K asked me about my symptoms and when they seemed to begin to appear, some of which I have written about elsewhere. Since 2005 I have been aware, at first dimly, of a mobility disorder developing in me; today, in 2016, I walk with a cane, stiffly, like I am wearing very tight jeans, I have little sensation in my lower legs, and I even have moments of “body confusion” in which I think I am moving my right leg but my left leg moves. I sway when I stand and fall/walk into walls and my sense of where I am in the world contributes moments of comedy to my day. It is as if from the knees down I am standing on stilts.
My MRIs show: a spinal cord that is shedding its myelin sheath protecting the nerves inside; a couple vertebrae that have spontaneously fused—”When did you have this happen?” Dr. K asked me. “I don’t know,” I replied. “I’ve never had anything done on my back.” “Car accident?” “No.” “Okay, you have a spontaneous fusion”; and places where the nerves themselves are atrophying, withering. But my brain, my cerebellum specifically, it is a healthy brain. I possess a fine-looking thinker. Thus, Dr. K posited, I do not have a spinocereballar ataxia, as my cerebellum is healthy. (As for my cerebrum, well, crazy does not often show up on MRIs.)
I spoke in defense of Dr. M, the first neurologist. “I think he was surmising from the tests … .” Do not use the words “think” or “surmise” with neurologists.
“Ataxia,” Dr. K interjected into my drifting-away voice, “has been treated like an umbrella term for patients with movement disorders like yours. But it really is a specific disease and you do not have a spinocerebellar ataxia.”
He turned to his computer and started typing what I thought would be yet more patient notes and requests for another battery of tests (Dr. M had generated several pages on my case), but then I noticed what looked like a Wikipedia page on his monitor.
“Based on your labs and the extensive deterioration in your spine and weakness in your legs, you have spinal muscular atrophy, I believe Type IV.” (I swear I heard him say “Type IV” with Roman numerals and in italics.) “Has anyone suggested this to you? No? It may be Type III, but I would say that you have a type called Kugelberg Welander, but very late-onset.”
He looked back at me. “You have a genetic disease. What a terrible thing to learn you have in the middle of your life. Your symptoms are severe and I have not seen many adult cases, but you will live, I think, a long life. Your legs will continue to get weaker, but you will adjust.”
(How beautiful is it to have a doctor look in your eye and simply say, “What a terrible thing?” To my first neurologist, a terrific clinician and lab expert, I sometimes felt like I was an interesting case but basically a piece of meat that had the unfortunate habit of making language-y sounds with my mouth.)
Spinal muscular atrophy is a genetic disease, a muscular dystrophy that in most cases affects children, but not in my case. The vast majority of spinal muscular atrophy stories are incredibly sad: Type I strikes infants who do not ever control their own movements and eventually suffer respiratory failure and die before age 2. The second type strikes children before age 2 and denies them the chance to learn to walk, but most SMA Type II patients live into adulthood. Many children and young adults seen on the annual Muscular Dystrophy Association telethons (when the telethon was broadcast) through the years have had SMA Type II. Type III and Type IV—and there seems to be some debate as to whether there is even a Type IV at all—are considered “late onset” and offer patients the lifelong challenge of impaired and deteriorating mobility and, eventually, respiratory difficulty. Since my symptoms struck in my mid-30s and grew aggressive after 40, I seem to be the very picture of an argument for naming a separate Type IV, if what I have is a spinal muscular atrophy.
There are problems inside the spinal cord of a person with either Friedreich’s or spinal muscular atrophy. The problems inside my spinal cord are so severe and my walking so impaired that my first neurologist’s first diagnosis of the more severe disease made sense.
My girlfriend and I went to bed the night I was diagnosed and she started to touch and kiss my back, along my spine. She didn’t let me pull away. It was wordless and it was every word. Every staircase suddenly acquired a banister.
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This first appeared on April 30, 2016.
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