Noonan Syndrome (NS)
Support Group Introductions
Couch, Travacca (as at 4/98)
Hello, my name is Travacca.
I have a Daughter named Cheyenne born 9/19/96 with NS. I also have 3 older sons that are not affected. Cheyenne was fairly small at birth, 6lbs 10 oz. and 19 inches long. She was born with severe edema of the feet and excess skin at the back of the neck, and a cleft palate. She was dxed that night with Turner Syndrome due to the edema and excess skin. The next morning they told us she had a large VSD (hole in the heart) and sent us to a ped. cardiologist. He told us she had a 50/50 chance and also dxed her as Turner's.
We took her to her ped. the next week and he also dxed her as Turner's. I went for my 3 week check up at my ob and he took one look at her and told me "This baby isn't Turner's, she looks like a Noonans child", so here we go again,,,, I requested blood test on his advice and guess what, she came up 46xx chromosomes.(normal female). We then took her to a gen. and was again told this was a NS child, but lets do tissue tests to rule out Turner mosaic. Cheyenne had her cleft palate repaired at 11 months and at that time had tissue harvested for tests. They also came back normal. She is finally listed as Noonans and not Turners except on the birth record, and they won't change it. I have had a very hard time accepting that she is different. In fact it took me over a year just to be able to bond with her. Dad on the other hand handled things just fine (which made me so mad).
Cheyenne is doing great now except that she is 19 months old and has yet to say a word. Her hearing is fine except for ear infections every month or so and so far we are getting ready for the second set of tubes. It could have something to do with the cleft palate or maybe we have just babied her to much and she doesn't have to talk. She walked at about 13 months. By the way her vsd has gotten smaller and all looks well with it.
She also has 3 nipples, webbing of the neck, wide paced eyes, ptosis of the eyes, edema of the feet off and no thumbs, but a 5th finger where her thumbs should be, curly blonde hair and blue eyes. She is very tiny but growing and eating fine. She wears about a 12 month in clothes. She is very bright and at age level on everything except talking. They doctors also told me she would have a wide chest because of wide set nipples, but she looks normal to me and everyone else in the family.
It was a horror to me to learn I didn't have a "perfect" baby, but now, hey
was is perfect anyway? She is now my perfect little angel(ha ha ha, she's spoiled ROTTEN).
Things do get better with time. I used to hate it when the doctor's would tell me,
"we will just have to wait and see", but that's the best way. All my fears have
been put to rest over time
and now I have the daughter I always wanted, even if she looks a little different and is
small, she is still beautiful.
I guess I have rambled on enough for now. Please feel free to e-mail me, especially if your a new parent, I haven't forgot the terror of the unknown and all the questions I wanted to ask of another Noonans parent.
Travacca Couch
Pohbare@bellsouth.net
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