I finally heard back from the geneticist today. This was after I left her three messages asking for our test results that were due. I guess it pays to be persistent sometimes.
They just tested her blood for mutations in the FGFR2 gene. Here's a little bit about that from Wikipedia (not that I get my medical information from Wiki, but you know it's helpful sometimes):
"Fibroblast growth factor receptor 2 (FGFR2) is a receptor for fibroblast growth factor encoded on a gene residing on chromosome 10. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis."
Like I said previously, they were concerned that her craniosynostosis might be a result of a genetic mutation since we do have another family member who had it. But everyone in the hospital was pretty confident, just based on the way she looked and the lack of any other obvious symptoms, that there was no genetic mutation.
So, the geneticist finally called me back today (on the way to the mall!) and she said that the test results came back and they are normal!!!!! It wasn't a big shock to me, really, but it was comforting to know just the same.
She said that we can schedule an appointment and they can decide then what other tests they want to run, if we want them to. But Wesley and I both agree that there's really no need to run any more genetic tests. We're pretty sure that nothing else is wrong with her and it makes us feel better that doctors said the same thing. I don't want to put her through any unnecessary poking with needles if we don't have any suspicions.
That's great news!
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