Genetic counseling – have you had it or would you consider it?
A few weeks ago on one of our Facebook groups a reader asked a question about Noonan syndrome. I’m ashamed to say I had never heard of Noonan syndrome so I thought it would be very useful to run an informational blog on the subject for our readers. The aim is to just to give a little assistance to raise awareness of this condition so I’d be grateful if you could share the link to this blog post with family and friends,.
First up it is genetic in origin. Like any syndrome it has a “constellation” of symptoms so no one person will display exactly the same features of the condition. It is worth noting that most but not all cases of Noonan syndrome will be picked up at birth. The prevalence is unclear but sources I’ve read suggest between 1 in 1000 and 1 in 2500 births are of children with Noonan. This would put it at a similar level to Down’s syndrome.
But typically most people with Noonan syndrome will have:-
- Heart defects – these will be present at birth
- Drooping eyelids and other facial features
- Generally shorter in height
Other symptoms may include:-
- Learning disabilities
- Decreased muscle tone
- Increased bruising and bleeding
- Eye conditions such as lazy eye and astigmatism
The key issue, as far as prognosis goes, with Noonan syndrome is that of the congenital (i.e. at birth) heart defects. The good news is that most children born with the condition will live to full adulthood and go on to lead independent lives.
Typically treatments are not aimed at the condition itself but at the specific symptoms they present.
Obviously this is a rare condition and we would love some feedback from people with Noonan or their caregivers.
Please can you think about the following areas:-
a) What are your main symptoms?
b) What sort of treatments have you received?
c) How old were you when you got your diagnosis?
d) Have you faced discrimination because of Noonan syndrome?
Feel free to add any links you many find of interest. Thanks very much in advance.
For further information on the condition why not go to http://www.noonansyndrome.org.uk/what-is-noonan-syndrome/ if you are based in the UK. Alternatively this US site may be of value http://www.noonansyndrome.org/.