By Tracy R. Franklin
The physical exam went much as I thought it would. I'd been this route before, after all, and I knew that no matter how painful it was to walk or how clumsy I was at home, I could manage five steps across a doctor's office just fine. I was perfectly able to tell hot from cold, sharp from dull, and my reflexes always fell within acceptable ranges. I looked completely normal on the outside; aside from a limp I'd developed in the past year, there was no visual evidence of muscle spasticity. I knew, however, that my muscles were constantly continuing to tighten and would not relax. I felt as if an invisible and ever-tightening drawstring was running through all the muscle groups of my body
I knew I was in trouble when the doctor began the appointment by asking, "Do you want to find out what you have, or do you want to feel better?" As far as disingenuous questions went, it could only be surpassed by that old classic, "When did you stop beating your wife?" I wanted both. And I knew I wouldn't get better until I was treated for what I had.
I tried to explain this to the neurologist sitting across from me. For the past seven years, I had allowed doctors to prescribe muscle relaxants or shove antidepressant samples into my hands as methods of treating my increasing muscle tightness and fatigue. Neither kind of medication had made the slightest difference. At the word "antidepressant," however, the doctor's expression became self satisfied.
"You don't need an EMG," the doctor informed me once I was again sitting across the desk from him. "I could order one, but I'd bet money it would be negative. The only test I could order that might be of use to you is a neuropsychiatric exam. Your symptoms are caused by anxiety."
"But I'm not anxious! You didn't even look at the list of my symptoms!" My angry arguments probably didn't help me make my case, but then again, nothing would have.
"This is a page long! It would take me an hour to go through this with you. I'll look at it later."
The internist who'd referred me to this doctor and suggested the muscle activity test known as an electromyography had taken a three-hour history. But after searching for a diagnosis for eight years, I knew that he was the exception. Most doctors had simply heard a few phrases, ordered the standard blood panels, and shrugged when those panels had come back negative.
Eventually, the neurologist and I bartered. I'd take his neuropsychiatric exam and he'd give me the EMG. And in the end, I was justified. The EMG showed several abnormal waveforms, while the mental status exam showed no indication of anxiety.
I began seeing the neurologist who administered the EMG, and eventually, began seeing her mentor. The best diagnosis they could come up with was of cramp fasciculation syndrome, an uncommon disorder that causes cramping and twitching. To be sure, I had the symptoms ― but I had other symptoms as well. Again, I had to insist that my medical providers look further.
Genetic testing showed a mutation of a sodium-channel gene, and I was eventually diagnosed by a university specialist. My disorder is said to be rare, and is called different things by different researchers. My doctor calls it a variant of myotonia congenita, which is a form of myotonia, or delayed muscle relaxation, usually caused by a chloride-channel gene. Other doctors are likely to call it sodium-channel myotonia or acetazolamide-responsive myotonia. It is a kind of potassium-aggravated myotonia.
The National Library of Medicine's Genetics Home Reference site says that "it has been reported in only a few individuals and families worldwide."
Perhaps it has only been reported in a few individuals, but I'm not so certain it's rare. After all, how many others are being dismissed and derided and prescribed medications that don't work? How many others are not simply falling through the cracks in our medical system, but actively being pushed through those cracks by incompetent doctors?
My specialist says he sees patients all the time who have shared my experiences, and that it's heartbreaking. And it is heartbreaking, all the more so because not everyone is as stubborn as I, and not everyone has an insurance plan that covers such extensive testing.
The medication I now take allows me to move with an ease I haven't experienced for 10 years. Its effect was almost immediate, and to say that it's been life changing is to completely undersell it. A week after I began taking it, I lost the limp I'd had for two years. A few days later, my husband and I went dancing. I pulled something in my knee, but it was so very worth it.
But damage caused by muscle enlargement has left me unable to work on the computer more than an hour or two a day, a real hardship for a woman who has always earned her living as an editor and a writer. And I'm angry ― angry because of my experiences and angry because others continue to have theirs. And angry because I don't know how to stop that.