I just joined this group in an effort to learn more about Noonan's
syndrome, which might be a fit for my daughter. I'm sure many of you
here are familiar with trying to figure out what diagnosis is correct
for your child.

My daughter is 2 1/2 now, but was born with heart block; something we
have learned is very unusual unless the mother has Lupus, which I do
not (neither does she, we were both tested). She had a pacer
implanted at 4 mo, which took care of the heart issue. She also had
feeding problems from birth - no dx of reflux was ever made, nor was
any damage found in the esophagus, but the symptoms were similar.
Arching, pain-type reaction to all foods (breastmilk, formula,
Neocate, etc).

At one point, elevated esopinophils were found in her GI tract and she
was dx'd with Eosinophilic Gastroenteritis, but repeated tests showed
no elevated eos, so dietary restrictions were lifted with no harmful
effects.

FTT was a result of not eating, thus a g-tube was placed at 11 mo.
She is slowly learning to eat now; still somewhat dependent on the g-
tube. Kyra is cognitively typical and has no gross or fine motor
delays.

She does have clearly defined epicanthic folds and midline facial
hyperplasia. Additionally, her legs are appearing more "knock-kneed"
as she grows (this is on my list of things to ask about next ped
visit). We did the basic genetic tests and ruled out Turner's and a
bunch of other things. The ball is in our court, so to speak, so I'm
inclined to ask to test for Noonan's, but hesitate since her symptoms
are not severe and apparently the tests only identify something like
50% of the kids with it?

I'm open to any thoughts anyone would like to share.
Thanks,
Jennifer