Any mums out there with experience of Noonan syndrome?

[girlfromwales]

I have previously posted on here about my son - quickly, he is 23 weeks and only 10lbs 6oz. Feeding is a constant struggle - he is on Infatrini and weaning (when he has it) - basically whenever we try and feed him he bawls and then is happy and smiling as soon as we finish.

We have had loads of tests done for thyroid, liver function etc. with them all coming back normal, so he is a mystery to everyone at our local hospital. But I have just been Googling his symptoms and Noonan syndrome keeps coming up. I'm not sure whether he has the distinctive features (although his ears are quite low and sticky-outy and he has very big eyes, but then so do DD and DH) BUT he obviously has FTT and the consultant has noticed a heart murmur on two occasions (but not on others).

Basically, I was wondering if this sounds familiar to any families with Noonan? We are racking our brains to find out what's the matter with DS, as we can't go on 'just waiting and seeing' forever.

Thanks everyone x

[FalafelAtYourFeet]

I'm sure theres another mumsnetter with a DC with this- it sounds familiar. Have you tried posting on Special Needs? Or do a search for Thomcat, not sure if it was her DC?

[saggarmakersbottomknocker]

There is someone yes, who used to post here, I think she still does and will point her over.

I posted on your feeding thread gfw - can I suggest you do persist and get an echo/ecg done for the murmur. My dd was a very poor feeder due to her heart problems - it is a very common symptom and the murmur needs further investigation. Good luck - hope you get to the bottom of it.

[Piffle]

Hi
I am the one who was pointed over
My DD aged 7 has Noonans Syndrome
Are you on Facebook? We have an excellent group there you will get tons of support
If not I am happy to call/talk/email anytime to help you out.

Yes my DD has all the features you mention plus slightly square ended fingers.
Can i reassure you about weight
My dd was 7lbs 8oz born
at 15 mths she was 14lbs

aged 7 she is absolutely fine with very few issues aside from dreadful eyesight
my email is kiwisbird at gmail dot com

[FalafelAtYourFeet]

Yes, Piffle, it was you i was thinking of, not Thomcat.

Glad you've found this

[Piffle]

twas Saggar who come and got me so to speak

[girlfromwales]

Thanks everyone - the consultant has mentioned getting an ECG done but that it could be a few months yet. We are going to press tomorrow for an NG/tummy tube as tonight's 7pm feed ended up being syringed in as he was bawling and therefore not taking anything.
Piffle - I will try and find you on facebook. How did you get a diagnosis? I have mentioned it to consultant but she fairly discounted it due to lack of distinctive features, but having now read about the heart murmur, I am thinking about it again.
Thanks all - will keep you posted xx

[Piffle]

Email me on the address below and I'll give you real name
take care x x

[saggarmakersbottomknocker]

gfw - please push for the heart investigations - they can be done same day at any decent Children's hospital and are not invasive at all. It's all very well for them to give the ng tube but it doesn't solve the problem as to why he's struggling. It does take the pressure off you though as you can worry less about what's going in. Having dd's saved my sanity in some ways.

[girlfromwales]

Sorry Piffle - no address? I haven't paid to be able to contact you via Mumsnet. Will attempt to write my email so that it escapes any filters. Beth Allen 1984 at aol.com
Thanks x

[girlfromwales]

Update - DS now in hospital with NG tube. Really not an ideal situation but he has now definitely developed an aversion - whenever we put a bib on him he starts crying - and don't want to affect DD anymore than we already have.
Having said this, he has put on 250g since Tuesday which is really good - but then why did he only put on 40g Friday-Tuesday last week??!!
We will see what this week brings xx

[saggarmakersbottomknocker]

My dd had a dreadful oral aversion due to a combination of memory of pain and discomfort from feeding, frequent suctioning and ventilation. It took many years to get over really. The ng can aggravate it too in some ways; it's not pleasant to have it passed as you'll have seen but on the whole the positives definitely outweighed the negatives.

Are you going to have to stay in for long?

[Piffle]

kiwisbird at gmail dot com
sorry on hubs ipod so cannot email just now

Try not to stress about weight, the best decision we ever made was to stop weighing DD at 7 mths and go on how she was.
I appreciate this is not possible for lots of babies but DD ate well no feeding issues at all and still never gained weight well.
If it is Noonans it is just one of those things that kind of resolves as they get older
I'm in a bit of a rush at the mo, but will try and get in touch later
take care xx