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Wednesday, June 12, 2013

Of Defects and Genes

I finally got the call I've been waiting for. I haven't mentioned that I was anxiously awaiting a call because I was anxious about it and a little bit worried that I may jinx the outcome by writing about it in advance. I know, but I am superstitious. I can't help it.
See, a few months back the eye specialist that I saw at the Cleveland Clinic asked me to meet with a Genetic Counselor, so that they could study my genes and try to determine if the eye disease that I have, Retinitis Pigmentosa, is occurring as part of a systemic disease process, or if it is occurring only as an eye disease. Apparently, they were concerned that I had symptoms of the systemic type issue, and that I was in danger of things like kidney failure, lung and heart issues, and a few other not so pleasant complications.  It turns out that I do not have the systemic disease. That is a good thing. That is a very, very good thing. But the counselor did tell me that they found a particular mutation of my BBS5 gene that has never before been found or documented. She was pretty excited about that, but she said that this mutation was not so severe as to cause the systemic disease. So it turns out, after all these years I finally have proof that I am, in fact, quite unique!
Actually, we all have mutated genes. Some of the mutations cause problems, ranging from severe to minimal, others are completely irrelevant. The problems arise when we have two sets of really, really defective genes. Then we get whammied with things like going blind when you're in the prime of your life...But hey, I'll take that. It's not as bad as what other mutated genes would have caused. I feel lucky, actually, that I didn't get super whammied with any number of those other issues.
Anyways, now they need more blood from me to be able to get in there and pinpoint which of the thousands and thousands of forms of Retinitis Pigmentosa I do have. So far, all they can tell me is that it is one of the recessive forms. Sigh. So the wait continues.

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