Aa
A
A
Close
363110 tn?1340924019
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.
Cancel
4 Answers
Page 1 of 1
525485 tn?1314364901
Make sure you update us as soon as you know!!!

So glad everything is going well so far!
Comment
Cancel
Comment
Avatar universal
Comment
Comment
Comment
Post Comment
419158 tn?1316575204
Thats great news! I hope the next 2 weeks fly by for you!
Comment
Cancel
Comment
Avatar universal
Comment
Comment
Comment
Post Comment
280369 tn?1316705641
Yes, let us know as soon as you know! Hopefully the time will pass quickly!!
Comment
Cancel
Comment
Avatar universal
Comment
Comment
Comment
Post Comment
212720 tn?1304379015
That is great news. So happy approval finally came through.
Comment
Cancel
Comment
Avatar universal
Comment
Comment
Comment
Post Comment
Your Answer
Avatar universal
Answer
Do you know how to answer? Tap here to leave your answer...
Answer
Answer
Post Answer
A
A
Recent Activity
18981035 tn?1474954407
Blank
sweetbee3 added the Weight Tracker
2 hrs ago
4769306 tn?1451008167
Blank
KeeLolo Well O day was Sept 21st. I... Comment
8 hrs ago
2020005 tn?1472427714
Blank
KTowne commented on KTowne's status
8 hrs ago
Blank
Weight Tracker
Track your weight throughout your pregnancy
Start Tracking Now
Blank
Pregnancy Tracker
Track your pregnancy
Start Tracking Now
Top Pregnancy Answerers
9442948 tn?1406820051
Blank
1816154 tn?1463433618
Blank
Collage Place, WA
Avatar universal
Blank
Avatar universal
Blank
6470732 tn?1439559892
Blank
Corning, NY
2080231 tn?1444937185
Blank
Royal Oak, MI
Pregnancy: Ages 18-24 Community Resources
RSS Expert Activity
233488 tn?1310696703
Blank
Marathon Running Done Over Many Yea...
05/15 by John C Hagan III, MD, FACS, FAAOBlank
233488 tn?1310696703
Blank
New Article on Multifocal IOL vs &q...
05/15 by John C Hagan III, MD, FACS, FAAOBlank
748543 tn?1463449675
Blank
TMJ/TMJ The Connection Between Teet...
01/15 by Hamidreza Nassery , DMD, FICOI, FAGD, FICCMOBlank
Top Pregnancy Answerers
9442948 tn?1406820051
Blank
1816154 tn?1463433618
Blank
Collage Place, WA
Avatar universal
Blank
Avatar universal
Blank
6470732 tn?1439559892
Blank
Corning, NY
2080231 tn?1444937185
Blank
Royal Oak, MI