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| Dinner?! No, thanks! |
Okay, so the DNA results came back, and I don't have myotonic dystrophy.
Hallelujah!
Whatever is plaguing me is not due to that particular hereditary disorder. This is good news for me and my family--I'd been mostly worried about my kids and nieces and others in the family if I was, in fact, found to have myotonic dystrophy.
So does this make me a bad medical detective? I certainly don't think so. A good detective with a sound theory must follow it to its conclusion, even if that conclusion disproves his or her hypotheses. That's part of the detecting process.
If you've followed any of this "medical detective" hunt of mine, you'll know I've been convinced for some time that I--and, hence, my family--MIGHT have myotonic dystrophy, a hereditary, variably mild to severe disease, similar to multiple sclerosis in many ways (though not all).
I never would have insisted on a DNA test had I not first been told my my local, very competent neurologist, the eminent Dr. A., that I have a demyelinating disease similar to MS and that he would, indeed, diagnose me with MS except for two things: the white matter lesions running rampant through my brain do not also occur on my spinal cord as in MS, and I'm a bit older than is usual in diagnosing MS. I have heard of older persons getting this diagnosis, however, including my wheelchair-bound aunt, though that doctor had settled on MS while saying my aunt didn't quite fit the profile.
Considering the fact I have had near every sign and symptom of myotonic dystrophy, including myotonia confirmed by EMG (a muscle test), AND my family's resemblance to a typical appearance of the disease (early male baldness, long, thin faces, maloccluded teeth, etc.), as well as my aunt's mystery disease and my son's mysteriously developing a neurological problem as a baby recently connected to myotonic dystrophy through research, it seemed only reasonable that a DNA test determine whether or not this is a concern for me and my family.
And I ended up paying for the test myself. That's how much I wanted to know. And in the months since my blood was taken, I sort of sensed it would be negative--and was darned glad of it. Being right wasn't the point. Being able to sigh in relief and move on is the best possible outcome. But part of figuring out something is ruling out all logical possibilities until the correct answer is found.
I still find it so hard to believe that Son No. 1's craniosynostosis--a skull malformation that has so deeply affected his life--was just a random event, a "spontaneous mutation." I want to know why it happened, and this did seem a very reasonable explanation. But, as I said, "Hallelujah!" Now I don't have to worry about this particular hereditary disease in my family.
You may remember my Mary Dell Show episode about the witch of a neurologist I saw at Johns Hopkins to determine whether I might have myotonic dystrophy. She was certain I did not, and that is fine--however, she treated me with a level of disdain bordering on derision that the memory still rankles. That consult with that woman will ever remain the worst experience I've ever had in health care. And I've had a lot of experiences in health care, some good, some bad.
Okay, so my theory is wrong, but why then DO I have a demyelinating, degenerative neuromuscular condition?
When Dr. A gave me this news, he leaned over and said quietly and seriously, "I'm so very sorry to have to tell you this."
I hadn't been at all surprised. I'd surmised long before that whatever was happening to me was neurological--based on my medical detective skills.
So it's not myotonic dystrophy. Well, then, what the hell is it?
I hate being told by the medical establishment that my debilitating signs and symptoms don't have a specific label. But the fact is, the cost of testing for everything it could be is prohibitive.
So don't worry, sports fans--I'm not going to throw my hat in for any other diagnosis at this point. I've read just about everything I can read about these things. In the end, whatever I have is causing me to go downhill faster than friends my age. That's a fact, and the "why" of it doesn't have to have a label. An MRI proved it.
I'm hugely relieved that whatever is happening to me is not something I have to worry about in others in my family--that was one of the main considerations in getting the DNA test and paying for it myself.
And it was worth every penny to have that peace of mind and to cross off that cause for whatever is making my life so difficult, health-wise, these days. We've discussed a few of the gems thus far--hypersomnolence, REM sleep behavior disorder, difficulty breathing/expending energy, heat intolerance, fecal incontinence, substitute aphasia (a brain-speaking disconnect), not to mention the day-to-day utter fatigue that must be fought every minute if one is to accomplish anything at all.
Guess I'll just wait around and see what surprises my degenerating brain has in store for me.
Can't wait to see what's next.
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P.S. I found a great site on diagnosing neuromuscular disease: http://quest.mda.org/article/getting-correct-diagnosis-neuromuscular-disease. I lament to say that many of the suggestions have not been undertaken in my case to date, while others that should be fundamental to a neurological exam, such as those listed in the "taking history" section, were not done in my case. Thus, my diagnosis remains unknown despite a) being told my a neurologist that I do, indeed, have such a disease and b) regularly experiencing the signs and symptoms of neuromuscular/neurodegenerative disease. The lack of a specific diagnosis is beyond frustrating!
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