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i suspect noonan syndrome

(4 Posts)
HotSince82 Sun 02-Apr-17 01:20:03

My DS is seventeen weeks and has an undescended testicle.
He also has a prominent xiphoid process and epicanthal folds (although these at least seem quite common in my family. I had them until 25 months)

No heart abnormalities/murmur picked up either pre or post natally.

He's 75 centile weight and height but 90 for head circ.

He's meeting all current milestones but the testicle and xiphoid makes me suspect noonans.

Will my GP think me mad and / or neurotic if I ask for a thotoughe evaluation of DS on these findings alone?

Any mums with experience of noonans with such slight signifiers or just in general?

Thanks in advance as I'm driving myself a bit crazy with uncertainty.

HotSince82 Sun 02-Apr-17 01:51:47

thorough evaluation

d1150971291443b001472 Tue 04-Apr-17 09:21:43

Hi My DD is 11 and was diagnosed with Noonans in 2014.She doesnt have any heart problems but it took 8 years from it first being suspected to getting a genetic diagnosis. (there were times we were told it definitely wasn't Noonans )However we still find many Doctors have never heard of Noonans and I have to explain all her medical history AGAIN! I don't know all the characteristics linked to Noonans ( at least 50 I think)but I have found most Doctors don't listen to parents and have made there mind up about your child's diagnosis before you've even met them. You care for your child everyday and and you are the only person who knows their needs intimately. You need to have a discussion with your GP about your concerns and be open to other possible diagnosis .And if your not happy you go back again and again and again...

ATisketATasket Fri 07-Apr-17 19:47:24

Just wanted to say hello as my dd has just been diagnosed with Noonan syndrome. She is 16 weeks, but it was picked up at birth (and as a result of a complicated pregnancy!). Therefore I have no experience of fighting for a diagnosis (we were referred to paeds, genetics, cardiology from the start).
I can't comment on the significance of your ds's symptoms, but I would definitely chat to your gp though. It would be a very poor gp who as a minimum didn't listen to your concerns and either allay your fears or discuss options for follow up.
I hope you get the information/reassurance you need flowers

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