Having problems with message search?
Welcome and congratulations on the birth of Chloe! I understand your feeling overwhelmed and anxious. I suggest you join the main ListServ of The Noonan Syndrome Support Group - you'll find information at www.noonansyndrome.org. It's the most active of the online NS groups. I think you'll find that group to be very supportive and informative. To answer your questions, to the best of my ability . . . only about 50% of people who are diagnosed with Noonan Syndrome have the PTPN11 mutation. Smaller percentages have KRAS and SOS1 mutations. So, there are plenty of people with clinical diagnoses of NS who do not have one of the known mutations. The cycstic hygroma, cardiac issues, and physical characteristics may lead a doctor to give her a clinical diagnosis, but there are a few other syndromes with similar characteristics. I hope that your geneticist soon has answers for you.
Marla, mom to Sara (2, NS - PTPN11)
In a message dated 4/19/2007 10:34:49 P.M. Eastern Daylight Time, lameremere@... writes:
I have a beautiful 8 month old daughter named Chloe who will probably
be diagnosed with NS. I say "probably" because she is in the process
of being diagnosed, but hasn't received a definitive diagnosis yet.
We live in Dallas, but take her to doctors at Texas Children's
Hospital in Houston. Does anyone out there know of any support groups
for Noonans parents in the Dallas area? We are anxiously waiting on
the results of the first genetic test for the PTPN11, but I know the
test is pretty unreliable. Chloe has many of the physical
characteristics of NS, so can a diagnosis be made strictly on the way
a person looks? Is there anyone out there with NS who also had a
cystic hygroma? Chloe has an AV canal heart defect, a cystic hygroma
as well as many of the other facial characteristics. Any words of
wisdom from parents of children and/or people with NS would be greatly
appreciated. My husband and I are overwhelmed and anxious. Thanks
very much!
See what's free at AOL.com.
Offline 
Send Email
