Today, just when I really needed to be cleaning the kitchen, I found myself inexplicably drawn to trouble. I did a Google search for information on muscular disorders. I know better than to search even with a specific diagnosis. Trying to search for vague information on medical conditions is insanity. If not misleading, it is at least emotionally foolish. Even though I know better, I can't make myself stop. Why not? The delay in meeting the specialists is largely to blame. As brutal as the muscle biopsy and specific diagnosis will be, it will be better than my mind racing all over the place.
I know on one hand that it must be dire. They are presenting clinically with the Gower sign at ages two and six. They have several other symptoms, including ataxia, hypotonia for one, mixed hypotonia/hypertonia for the other, keratosis pilaris, vaulted palates and more. They've both been symptomatic since birth. Some things, like ataxia, have presented in the toddler window of development. The clinical presentation alone rules out the higher functioning, better prognosis diagnostic potential.
One the other hand, they definitely do NOT have muscular dystrophy. We do have normal blood work and and an EMG that rules out the entire catagory of neuromuscular disorders. That leaves one of several dozen diagnoses. With their higher than average intellegence and normal behavior, we can then rule out some other possibilities. Is it any wonder that a mother might succumb to the temptation to walk into the specialists' office prepared? The wait to get two patients in on the same day is too much to bear in the age of ready access to information. I know that I should just wait to hear specific information for my own children. I know that it will be better for us as a family to concentrate on happy family life. I know. Yet, I'm only human, and I fall to temptation as any mother would.
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