Hi everyone,
I'm really hoping to get some advice for our 3 year old DS.
We strongly suspect he has noonan syndrome.
From the moment he was born we noticed he had very "unusual" looks - curled up ears, an extremely flat nose (no bridge), large droopy eyes and a very defined top lip. We have wondered non stop over the last 3 years where he got his looks from as he looks nothing like us or his 4 siblings.
I recently stumbled upon an article about genetic mutations and when I read about the facial features of noonan syndrome everything just clicked into place! I couldn't believe it.
So I've seen the gp who had to Google it and immediately said she thought he was fine. But I insisted so she is referring us to a paediatritian.
My question is, what's the best way to get a diagnosis? I'd like genetic testing but don't know how to go about doing that?
I would really appreciate any advice from anyone who has experience with this - feeling so overwhelmed at the moment.
Thank you!