Noonans syndrome

[Lenny1987]

Hi all

My little one has been diagnosed this week with noonans. I had never heard of it before he was born so I am educating myself rapidly.
I have joined their organisation Facebook group which is very helpful. I want to be as proactive as possible to ensure the best support for my boy. Does anyone with any experience of it have any suggestions at key referrals? He is 11 weeks old, and my pediatrician kept saying not to worry about that as there are years due to many not being diagnosed until they are teens, but I want to help him now. He already is under a cardiologist for his pulmonary valve stenosis and has had a scan on his undescended testes.
Its a weird one in that we will never know what the condition will manifest in him until it happens, the controlling part of me is struggling with this!

[Lenny1987]

Bump

[Ellie56]

Sorry no experience myself, but I understand your need to educate yourself. Have you looked here?

www.nhs.uk/conditions/noonan-syndrome/

www.noonansyndrome.org.uk/

[stopusingmyusernames]

Hi,not Noonans syndrome but my 7 month old son was diagnosed yesterday (we finally got his genetic results back) with a very rare genetic condition that affects around 150 people worldwide.
It also ranges from mild to severe so we have no idea what the future holds,which is hard when your a planner like me!
He's gorgeous and doing amazing though.
Hope you're doing ok,it was so tough at the beginning,think I was googling about 20 hours a day.

[HazeyJaneII]

I used to work as a 1-1 in preschool with a child with Noonan's. This child had input from physio and SALT, heart scans and a dietician. At the time I was working with them, they weren't very delayed, they were very sociable, had good understanding but with a slight delay in expressive speech, good fine motor and gross motor skills, very small for age, and very slight due to lots of difficulties around eating.
As with most genetic conditions, there is a wide range in how the condition can affect a person.
It's really good to know, so young, as hopefully this well help get help in the early years.....although it must have been a shock.
My ds also has a rare genetic condition, not diagnosed until he was 8.
I think there can often be a lot of crossovers in needs and difficulties with rare syndromes, and so many people with children with any SN, have similar difficulties in getting support or in the worries that can occur, so stick around the SN Boards, there are some lovely people here, and I know, I have found huge support here over the years.

[Lenny1987]

@Ellie56 thanks for the suggestions, I've already signed up to join the organisation they look really helpful.

@stopusingmyusernames 150 people! Thats incredibly rare, and I imagine will be tricky getting professionals to even know about it. So pleased to hear your little one is doing well. I have spent an awful lot of time with dr googled too, everybody told me to stay off it, and in many ways I agree as you always see worst case scenario but it was also where I first came across noonans and asked his cardiologist about it - nobody at the hospital had even suggested it.

@HazeyJaneII that must have been tough waiting so long, at least I am glad we didn't have a long wait. Good to hear these boards are helpful, I dont know of anyone in the area that has it so these could be useful, especially as you say with crossover.

[stopusingmyusernames]

@Lenny1987 same! The doctors thought he had a different condition,my constant googling found something that fit him so well and I thought that's what he actually did have. I asked his geneticist to test for that and that's what it was!
Clever Mumma's!

[HazeyJaneII]

My ds's condition is also around 150 world wide. I think there are lots of new diagnoses arising from things like the DDD study and 100,000 genome.
When the geneticist gave us ds's diagnosis, she said 'you will spend a lot of time watching Drs Google it' (which we have!) and she also told us to go on Facebook, 'if there isn't Facebook group...start one'.
Irs one if the upsides of social media - to be able to connect with a parent anywhere in the world, whose child has the same tiny genetic mutation your child has!

[Lenny1987]

@stopusingmyusernames goes to show we know our babies best, even if we haven't got medical degrees!

Are any of your children's conditions inherited? I ask only as I wonder what the process is next - some suggest we may or may not be tested to see if we have it. I am more worried about my other son, in case it has gone undetected.

@HazeyJaneII you're completely right about social media, the fb group has proven helpful already.

[stopusingmyusernames]

@Lenny1987 our sons condition is usually just a random occurrence but a very small chance of it being inherited from us.
We only got confirmation of my sons diagnosis yesterday but I have asked his geneticist if me and my husband can be tested and that will be happening soon.

I also worried about my other son being a carrier but they said that if he shows no signs of it then he's most likely absolutely fine and if me and my husband come back negative then we feel much less worried about future children we might have