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.
Copyright 1994-2016 MedHelp International. All rights reserved.
MedHelp is a division of Aptus Health.
This site complies with the HONcode standard for trustworthy health information.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. Med Help International, Inc. is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.