The appointment today was wonderful. Dr. January at the University of Pennsylvania took me very seriously and believes he knows what the problem is. The physical exam he gave was the most thorough I've ever had, as was the medical history he took.
He's ordered a few blood tests, which he expects to be negative (and, in fact, I've had them more than once before and they have always been negative). He also ordered an EMG that he will perform (remember, this is at a premier EMG lab), and I'll have that in a couple of weeks.
The suspected culprit is myotonia congenita. [Edit: I had this wrong when I first wrote up this entry; I thought the doctor was talking about paramyotonia congenita, mostly because the gene almost always associated with myotonia congenita is CLCN1; SCN4A is associated with paramyotonia congenita. However, I just got a copy of the report today; right there in black and white, Dr. January says he suspects "myotonia congenita." I did a little digging and found a couple of studies saying atypical cases of myotonia congenita can be caused by mutations in SCN4A.]
I was very active as a child, teen, and young adult, but Dr. January didn't seem to be surprised or bothered by this. (I do recall the sensation of muscle tightness even as a child, but it didn't slow me down, and I didn't know it might be abnormal.)
The doctor also said that the symptoms of myotonia congenita can be managed, and that there are better drugs available to treat the muscle tightness than any I have tried.
The news that this disease can be managed is the best news of all. It was a tremendous relief to hear that even if my son is at risk for this disease, his quality of life will not necessarily be compromised even if he develops it.
I'll let you know the results of the EMG in a couple of weeks; I'm expecting to see something (after all, I've already had one abnormal EMG), but I'm not sure what. I also don't know if the kind of activity seen will make a difference diagnostically.
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