We got some good news today! Stephanie our geneticist called with results from Baltimore regarding the Smith-Lemli-Opitz Syndrome, which was our biggest concern. The test came back normal, over 99% accurate that he does not have this disease, so we are thrilled.
They still have more tests to run to rule out any other disorders which may explain why my UE3 hormone level was low (which was the indicator for Smith-Lemi-Opitz). Basically they will go over his chromosomes with a fine tooth comb and look for any mutations to explain the original positive test result. We should have all the remaining test results by the end of next week, but for now so far so good.
Thanks so much to everyone for the positive energy you've been sending our way. Keep your fingers and toes crossed for one more week in hopes that the other results are as good!
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That's great news guys! Fingers and toes are crossed! Love to you both, Joanne
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