Noonans Syndrome?

[Amy_T]

Hi all,

I just wondered if anyone here had a child with Noonans? We've had issues with my daughter, who was 4 in august, since I was 26 weeks pregnant and I've always thought there must be a reason for it and I've recently discovered Noonans - I am totally and utterly convinced my daughter has this. We have an appointment with multiple agencies tomorrow because of some of her issues so I will be mentioning it, just wondered if there were many other people on here with experience.

Thanks

Amy

 

[Feathers]

Hi

We've been told our geneticist suspects our daughter has Noonans by her Paediatrician and are waiting on an appointment from the genetics team to discuss it. Since it's in her file I'd say they must be pretty sure (this will be a follow up appointment).
She does have lots of the signs of Noonans when we've read about it. I'm by no means an expert but we have had some questions answered if you have anything you wanted to ask

 

[Vampire Mom]

You'll need a geneticist to confirm. ER doctor who caught this with Hannelore was suspecting Turners, apparently they look vaguely similar in young children.

Once cardiac issues were ruled out or corrected (from other issues), other than she's tiny, it's just there for us. A number of her problems are NS potentially, but could be other things. Example being gross motor delays and not walking, but the EDS causes her joints to dislocate or subluxate so her joints aren't stable to allow her to walk. So is it NS or EDS? Likely a combination of both, but can't fix the EDS so can't get her walking.

 

[Amy_T]

Thanks for your replies - I have done A LOT of research on it and apparently it is often just clinically diagnosed as even the genetics tests can be inconclusive and there are some mutations that haven't been classified yet so the genetics tests only account for about 75% of cases.

When were your little ones diagnosed?

We've had a meeting today but this was just with a team of various professionals, the only one who had heard of it was a paediatric nurse but they all agreed, based on the evidence I showed them that they can see many reasons why it could be. Waiting for a referral to a paediatrician though so see what they say but it would explain a lot. x

 

[Vampire Mom]

Erm, around 15 months? Before, Turners was suspected but everything with her all together make nothing fit quite right at times. I know the ER trip was before we adopted, around 6 months or so. But baby brain fog has set in and exact dates are gone.

 

[sara15h1986]

Hi all.
I have a little boy who is 13 months old and we are going through genetic testing currently.
He was tested for the PTPN11 mutation first as that's the most common and that came back negative so they have sent off for a job lot which has now been funded and we are waiting results for them x

 

[Amy_T]

Hi,

That's interesting. When ym daughter was born she underwent a lot of genetic tests because of the problems she was born with but we were told everything came back negative so I'm thinking they just didn't see the 'right' mutation for her. We are waiting for a referral to the paediatrician anyway so will see what they say.

They like to worry us these kids don't they!

 

[sara15h1986]

I spend many days still upset by it now.
Can't get my head round it.

 

[Amy_T]

Yes i know what you mean - we've struggled because I had a lot of problems when I was pregnant with her, we were prepared for her either not to survive or for her to have a life-limiting condition, when everything seemed fine we were obviously relieved. Now we've come full circle and are back to there potentially being a life-long condition... but we see it as an explanation for all her issues (there have been many since she was born) and are trying to concentrate on a diagnosis being put in place and that meaning she will get any help she may need. Obviously it depends on how it is affecting them I think. How is your little boy?

 

[Feathers]

Noonans can be clinically diagnosed meaning not everyone who suffers from it has something show up on the genetic testing. We've had full genetic testing done and are still waiting for those results to come through but we were told it can take a long time as in up to and over a year for them to map out DDs, mine and OHs DNA entirely. It is hard when children have worrying things going on, I know I'd far rather it was me than her but we try and just get on with it as best we can. Still sucks though.

 

[sara15h1986]

My boy is good. He has some delays and really lacks tummy muscles so struggles to sit up x