Noonan syndrome Member Introductions


#24

Hi- I have a son that was diagnosed @ birth with Noonans


#25

This is difficult. I am considering adopting a child with Noonan’s syndrome and I need some advice and support.


#26

My son was born January 2007 and was diagnosed with NS after about a month. The first clue they had was that he has pulmonary stenosis and hypertrophy of his left ventrical. He is currently doing well. My husband and I are looking forward to getting to know others who are living with or caring for someone with NS>


#27

I am a father of a 16 yr old with NS.


#28

I just found out my daughter has noonan syndrome. and would like to find out as much as possible.


#29

I have a 23 year old son who has been said to possibly have Noonan’s. I would like specifics on this syndrome.


#30

Our 10 month old dauhter was diagnosed with Noonan’s Syndrome about a month ago.


#31

Mom of 4 kids, 5 yo son recently diagnosed with Noonans.


#32

hi, my name is marsha. my son johnny is 14 years old, he has noonans. he is doing well. we would like to meet others with N.S.
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#33

My name is Sue and I am the Mama of 7 year old Indy. He has had difficulties of various sorts since he was in the womb. We believe most likely he has Noonan’s in a very mild form which makes sense given his small palette, somewhat droopy eyes, facial structure, one not fully formed ear, tooth decay susceptability, developmental delays, speech issues, genetic high end hearing loss, low muscle tones etc., etc.

I am very frustrated currently because we went in for what I believed was to be an assessment for sensory issues with a developmental pediatrician and it didn’t actually adress sensory at all. She said it isn’t covered by our insurance (which we already knew) and that it wasn’t “proven science.” She also had NO idea what Noonans is or how it manifests. I actually am beginning to feel that was downright disrespectful that she didn’t even look up what Noonan’s is before she met with us given we’d indicated it as part of our son’s picture.

Anyway, I want to stay connected with you all as we continue our search for how best to help our kiddo. I feel he does have Noonan’s albeit low level symptoms and probably sensory and I need people who work with him to understand how that impacts him and how they can help him too.

Thanks for listening and being here!

Sue


#34

Hello, my name is Madeline and our son is Henry. Henry has been given a ‘clinical diagnosis’ of Noonan’s Syndrome based on the same characteristics you mentioned (facial structures, global delay for Henry, heart issues - does Indy have any?). Henry is only just turned three and yet I have spent his entire life working with (fighting with?) the state, Social Security, hospitals, etc. trying to get as many services as possible for Henry. We were able to receive a clinical diagnosis that did get him the services I sought…after nearly 6 months of CONSTANT phone calls…and now he receives Physical Therapy, Occupational Therapy, financial assistance (via SSI), and access to many services provided by our county for toddler groups, etc. We live in the Portland (OR) metro area and I know services are pretty great here…which is honestly why we moved back. Although Noonan’s is still fairly unheard of even here, there is definitely a desire by his health care practitioners to
find out as much as they can (I feel). I think the greatest advice I received even when Henry was in uteuro (and we knew there was something different…) was to become ready to be his strongest advocates and continue to push on through regardless of what everyone around him said. The Noonan test is only 50% on even when it is a positive…you have to find a geneticist who is willing to put their personal opinion on the form for Indy’s benefit. My best to you. Sorry if my spelling is off…I’ve just started back at the University (now I’m studying Speech Pathology to help Henry!) and I am dead tired. Well, if I can be of any help at all…please contact me! Sincerely, Madeline


#35

Hi Madeline,

Indy had heart issues in utero but none since, trouble feeding when young and picky eater now, worries a lot, small stature, low muscle tone, developmental delays and characteristic facial features.

We were lucky enough to get into “the system” early since Indy required physical therapy for a neck issue and possible Dandy Walker. They noted his delays early on and that gave him eligibility to early intervention services, PEIP and now an IEP through his public school system.

What did they say they required in order to give Henry an actual clinical diagnosis?

Amazingly, we also live in the Portland (OR) metro area. I have found most of our Doctors/specialists to be willing to find out more which is why I was so frustrated that the developmental pediatrician we saw not only didn’t know about it but made no effort to find out either!

Sorry to hear you are so tired. Thanks for writing to me. We should stay in touch given our close proximity.

What would you say are Henry’s most obvious Noonan’s issues? Do you know anything about a link with restless leg syndrome and Noonan’s or sensory issues. We will have Indy tested for sensory issues whether the school district will do it or whether we have to do it ourselves. I hadn’t thought about trying to push the diagnosis though. Maybe something we should look into although I don’t know if they’d pay even then. We may have to change insurance given that pretty much Kaiser said they only cover sensory issues for very extreme cases of autism.

Sue


#36

Hi Sue,
How frustrating to go to a doc and have them not even know what Noonans syndrome is? Isn’t it the second most common genetic disorder aside from downs? Aarons cardiologist said that he thought that he may have noonans syndrome and diagnosed him clinically at 11 months after several heart surgeries. Aside from the type of defect he had Aaron doe not present with alot of the other characteristics of Noonans. When i went to follow up with his His pediatrician, she took the medical dictionary out and rattled off some symptoms (that i already knew about from just a google search on the internet). She really did not really know much about it either. Needless to say i have found another pediatrican! I research all the time. Sometimes i get frustrated because there is so little out there. Its like i keep running into the same articles on the web and nothing new. We finally had Aaron tested last year and his tests came back positive for Noonans. We have a great resource here at Childrens in Denver. Good genetics department and cardiology. I feel grateful for that. Keep plugging away. It can get frustrating but you are your childs advocate!


#37

Hello, my name is Stacie. I have a niece with NS and I’m entering the field of Occupational Therapy, so I’d like to connect with others for personal and academic reasons.
I’m currently involved in creating a CD for parents/caregivers of children with NS that will also be used in a class presentation.
I am blessed with 4 wonderful children. I’m about to be married in July of 08.
Even though all my children are healthy, I had my youngest daughter born with TCS. (Tethered Cord Syndrome) She id developing normal after surgery at 8 wks. (She’s 7 now!!) There doesn’t seem to be any problems and will continue to have a 30% chance her spinal cord will re-tether.
My family has/is going through some very challenging trials over the past two years, but we are functioning pretty well.
I hope to graduate with honors in May 08’!


#38

Hello everyone! I am joining this group because my son is suspected of having Noonans syndrome. We have had alot going on since he was born 6 months ago. He has alot of the signs of this syndrome. We are now waiting on the sequential tier testing results to come back. The chromosome testing came back normal.
One question i have pertains to vision and focusing. He has been to 2 eye doctors and both said his vision is normal. But he will not focus on faces. He will follow toys and such but its almost like he goes out of his way to avoid looking at anyones face. His eyes do tend to “jump” around a little. I was wondering if anyone else has heard this being associated with Noonans. I know it is a sign of autism but i am wondering if it is associated with Noonans also. I have not really been able to find anything that relates it.
Its very nice to meet everyone on here and i am so glad i found a group that can relate to what we have been going through and can maybe answer some questions.


#39

Hallo to all ,hoping iam in correct sight.,i am the grandmother of abeautiful 7 year old boy .we are hoping to make contact with other familys.Love and from Australia


#40

Hi my names Dave and im 30 years of age. I have never met or spoken to anyone else who suffers from this condition. I have noticed that there is alot of help groups to talk to about new borns and young children with the condition, but what i would like is to talk to people of my age group and see what their experiances are of living with it.

I don’t seam to suffer from the more extreme phyiscal or mental symptoms of the disease. But it would be helpful to talk to others


#41

I’m Robyn

My second child, our daughter Lauren, now 5 months old, was diagnosed at birth with possible Noonan’s or Turner’s. It has since been confirmed by DNA as Noonan’s.

She bright, eats well (as her wrinkle puppy body will attest) and is sitting up already. We’ve been lucky that our health care providers have been EXCELLENT - on the ball, and know what to look for - primarily the pediatrician on call the day she was born.

We’re waiting for DNA confirmation whether the RAF1 mutation was hereditary or random.

Lauren’s heart issues though, don’t match with typical NS characteristics so it will be interesting to see how that plays out. We see our cardiologist in Sept. for follow up.

I’d love to be in touch with other moms with multiple children and/or infants with NS. It’s going to be quite a journey and I’d love the company…


#42

Hi
Im Marie Clare
My son has possibly got Noonan Syndrome, we had a truamatic pregnancy with a large cystic Hygroma, with normal chromosomes. He has some of the features of Noonans, low tone at birth, mild pulmonary stenosis, feeding difficulties but not many of the major facial features, although quite a few minor ones. Hes a little delayed at 4 months so we will be seeing a genetisist soon but the initial tests the hospital carried out were negative for Noonans. (although they explained it can be diagnosed clinically)
Anyway, we’re in abit of a whirlwind at the moment as this journey is so new to us, but would love to hear from other mums with infants with Noonans.


#43

Hi everyone. This is my first go at anything like this. I was born with Noonan Syndrome 32 years ago, and have been afraid of it ever since. I'd love to meet some other people with the condition so that I may feel that I know someone who understands. Cheers!

http://www.careplace.com/stories/view/27104