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New Noonan Diagnosis   Message List  
Reply | Forward Message #333 of 908 |
Re: [noonan_support] New Noonan Diagnosis

Hello, sounds like your baby is at a healthy weight and length...that is great!  If I could give any advice, I'd say not to worry about the current shape or size of his head...all that changes so much over the next few months, you might look back and say, 'wow, remember how we worried about that?!'.  Of course the recent diagnosis is most likely overwhelming...I'm sure you've spent lot's of time on the computer lately, sounds like your son has a really great starting point!  I'm sure your doctor has told you that there is a large variance of symptoms and their degree of seriousness...sounds like your son might be mildly affected?  Our son is still undiagnosed...but from what I've learned, I believe he has Noonan's.  We started with Early Intervention Services at 5-6mo. old.  He has an O.T. who comes to our home 1x per week.  She is wonderful and helps us with certain low-muscle tone issues.  When our baby was little (he is now 1), I was soooo worried all the time...we also have a healthy 5 1/2 year old girl...but now I seem to have fallen into a rhythm with him and treat him as I did our daughter...not fretting over every little thing.  Sorry to go on so long, I just remember how overwhelmed and suddenly alone I felt when things were so different than anyone I knew.  Hope this helps? Best wishes, Madeline 

jskione <jskione@...> wrote:
My son was diagnosed with Noonan's yesterday.  He is three months
old (11 pounds, 22.5 inches, head circumerference of 39.3 cent) He
passed hearing, eye, and skeletal tests with no anamolies noted. 
Still, our geneticist says our son is an open book.  So far, he
seems to be meeting milestones.

My concern is the appearance of his head.  It seems very small to
me, although the doctors assure me he is not microcephalic and that
its appearance is likely a result of the cystic hygroma that
resolved in utero.  Can anyone give me insight into how the
appearance of noonan babies changes over time?  Will his head get
bigger?  His face seems to be in the lower half of his head.  Will
it grow?  His ears are low set, but the doctor says they are within
normal range.  They are small and flat to his skull right now.

Also, any insight anyone can offer regarding how my husband and I
should proceed with our son would be helpful.  He is going to go
through a battery of tests (endocrine, hematology, and cardiac) to
make sure he is okay.  What else should we look for?  How soon
should we start with a developmental pediatrician?

Any insights would be greatly appreciated.

By the way, we know our son has a missence on protein 308 of the
ptpn11 gene.





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Wed Sep 14, 2005 2:27 am

mckeefamily1
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Message #333 of 908 |
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My son was diagnosed with Noonan's yesterday. He is three months old (11 pounds, 22.5 inches, head circumerference of 39.3 cent) He passed hearing, eye, and...
jskione
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Sep 13, 2005
5:16 pm

Hello, sounds like your baby is at a healthy weight and length...that is great! If I could give any advice, I'd say not to worry about the current shape or...
Madeline mckee
mckeefamily1
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Sep 14, 2005
2:27 am

Madeline: Thank you for the positive feedback, as it has been overwhelming, even though I knew my son might have a genetic syndrome prior to birth. He is my...
jskione
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Sep 14, 2005
11:43 pm
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