After thirteen years of symptoms problematic enough to interfere with daily living, I have finally been diagnosed with a genetic disease called, depending on the specialist or the paper, sodium-channel myotonia congenita, sodium-channel myotonia, atypical myotonia congenita, or acetazolamide-responsive myotonia. It falls under the heading of potassium-aggravated myotonia, which itself is part of the larger family of ion channelopathies known as periodic paralysis disorders. My disorder is, according to the little bit of medical literature I’ve been able to find, one of the rarest of the rare.
I have to wonder.
I had what I now recognize as symptoms even as a child – large muscles, tightness in my back, an unnatural tolerance for the hardest of backrubs – but it wasn’t until I was an adult that I began to feel as though I was constantly pulling one muscle after another. At the time, I was a struggling single mother who worked full time but could not afford health insurance. I “toughed it out” and “pushed through the pain” for five years – only to later hear that I was “too young to feel so old.” (Precisely.)
Later still, as symptom after symptom appeared and antinuclear antibody (ANA) panel (the standard blood tests for detecting the more common autoimmune diseases) after antinuclear antibody panel came back negative, I would get shrug after shrug. The doctor who’d once told me I was too young to be in such pain now told me that maybe I was simply dealing with the effects of aging. As my world and the number of activities in which I took pleasure began to shrink, I began to see skeptical looks on the faces of the medical professionals who examined me.
I was prescribed muscle relaxers, but they did little to nothing for the muscles that were tight and left me more fatigued than ever. I quickly ruled them out as a treatment option.
A new general practitioner ordered magnetic resonance imaging (MRI) of the brain, neck, and spine. These MRIs showed osteoarthritis of my neck and spine, but not of a serious nature and nothing unusual for my age. A neurologist told me I needed a rheumatologist; rheumatologists speculated about fibromyalgia (I had none of the trademark “tender spots”) and chronic fatigue syndrome.
Another general practitioner, a gem of an internist who refused to give up and whom I still see, referred me to another neurologist and requested he perform electromyography (EMG). The neurologist told me point blank that my problem was anxiety, I needed a neurospychiatric exam, and that he could order the EMG but that he “would bet money it would be negative.” I bartered. I’d take the neuropsychiatric exam (and shut down that line of thought) if he’d order the EMG.
The neuropsych was normal. The EMG was not. I suppose I’m lucky that my mental health exam was normal; after all, one might think that depression and anxiety could be natural side effects of physical disability, especially physical disability that has gone without acknowledgment or treatment for years on end.
My first diagnosis was of cramp fasciculation syndrome, a fairly rare syndrome that encompasses twitching, cramps, and possible muscle stiffness, pain, and paresthesias (sensations of numbness, tingling, cold, etc.). It didn’t not fit, but it also didn’t explain the cumulative nature of my muscle stiffness and pain. It didn’t explain why each day I was forced to do a little less than the day before, why a trip to the mall would make movement difficult for two or three days afterward. The medications I tried reduced the amount of twitching I experienced, but I didn’t much care about the twitching to begin with – the excruciating pain that resulted from the muscle tightness was the real problem.
My new neurologist (oh, yes, there was a new neurologist) ordered genetic testing from a private laboratory. When the results showed a mutation of my SCN4A gene, he said I needed a specialist. The doctor he recommended was no longer taking patients, so my wonderful general practitioner was able to get me in to see a research university specialist.
The university specialist, after taking a full history, looking at my records, and performing a new EMG, gave me my diagnosis. He had a resident sit in on the EMG. As he was instructing the new doctor in EMG technology, he was also instructing him to listen carefully to patient histories and cautioning him to avoid jumping to conclusions. Neurologists, he said, dismiss patient complaints like mine as psychiatric far too often. He’d seen it many times before, and it was heartbreaking.
I am grateful to the university specialist for the validation. I’m even more grateful to him for making sure that the residents he’s responsible for training will be responsible and good doctors themselves. And I’m heartbroken that there are not more doctors as open minded and thorough as he.
I have my diagnosis now, which means I don’t have to deal with skepticism and I do have treatment options that will work. But my experiences up to this point have not been unique, have not been uncommon, have not even been abnormal. Patient after patient just like me will tell you that my story is our story, is a story that can arguably be said to be the standard. So many who are struggling are still getting negative blood test results, still getting shrugs, still getting “maybes,” still getting skeptical looks or insulting accusations. They’re being told there are no options, and they’re being lied to. What are the treatments for ignorance and indifference, and how do we ensure that they become the rarest of the rare?