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Finally waiting on results of genetic testing for Skin disorder. got ap...
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Finally waiting on results of genetic testing for Skin disorder. got approval for test

Well most of you know my first son TJ has down syndrome and my rare skin disorder EHK. it's a 1:300,000 occurance normally.  We make skin cells 300x faster than normal and babies born with this have torn up skin so they should be born via csection to help minimize risk of infection, however they heal much faster than children with normal skin so 3-4days tops in NICU.

It's a %50 of being passed on to each baby I have but since we have 4 generations in our family with it it's not a big deal.

I had my amnio at 16w5d and we got the preliminary FISH results saying that it's a boy and he has no chromosome issues, no trisomes.. but we have been waiting on approval from my insurance to test for the skin disorder. I found out today that they got approval and are processing the test, so we should know in a week or two if he has the skin disorder. :)
All I can say is FINALLY. I'm tired of waiting for the final results, lol.
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4 Comments Post a Comment
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525485 tn?1314364901
Make sure you update us as soon as you know!!!

So glad everything is going well so far!
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419158 tn?1316575204
Thats great news! I hope the next 2 weeks fly by for you!
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280369 tn?1316705641
Yes, let us know as soon as you know! Hopefully the time will pass quickly!!
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212720 tn?1304379015
That is great news. So happy approval finally came through.
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