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November 10, 2005
Good News
The geneticist Dr. Marion called yesterday afternoon with some good news.
He'd gotten our bloodwork results back, and wanted to tell us now rather than wait until the appointment. Our bloodwork came back normal, so neither PreZ nor I have a balanced translocation that might have caused this, so it's a spontaneous de novo occurance. Apparantly though I do have an inversion or something on my 9th chromosome, but that doesn't affect anything. I'll probably ask more indepth about that when we have our visit.
So that at least is a silver lining. We will however have a higher risk than average of genetic problems with future children, 1% versus almost 0%, and as a result it's probably recommended that I get an amniocentisis with further pregnancies.
I also asked him something about the test results from Dashiell, of which I have copies, because it mentioned two different things and I wanted it clarified. The top/title of the result mentions a deletion p14.3p15.2 and in the results themselves it mentions a deletion between p14.3 and p15.1. This is significant because it's p15.2 that is the piece that is related to (severe) mental retardation. It's the critical part, and he apparantly still has it. So another silver lining and indicator that he probably has a milder version. I'm taking every small victory that I can. A deletion of p15.3 is what would have given him the characteristic cat's cry that named the syndrome, he also still has that band, hence no cat's cry.
Posted on 02:55 PM to: Cri du Chat , Dashiell
Comments
Hi, I posted a very lengthy post on one of your earlier entries. Just wanted to say that I was pleased to hear your fairly positive news so far. I hope that this continues to be the case for you and your family.
All The Best.
Louise
Posted by: Louise Hatfield at November 12, 2005 03:20 PM