My son now 15 has always been poorly, several chest infections as a young child and has always had stomach issues...bloating, very loose movements etc.
At the age of 4 he was diagnosed as a CF carrier.
After another year of cold after cold, an asthma diagnosis last year and increasing bowel issues we were referred back to hospital.
Yesterday we saw paediatrician who is a CF specialist and she wants him to be rechecked for CF.
Whilst we were there he had a lung function test ( poor) chest and wrist X-ray ( for bone age) cough swab and blood tests.
The bloods are being sent for genetic mapping and she is also testing for other things. He has been tested for Coeliac disease twice in the past but they were negative, I think one of the phials of blood was to check that again.
Consultant has also arranged another sweat test ( the one he had done when he was younger was spilt and he shouldn't have had that repeated straight away at that time apparently)
Also he is to have an ultrasound scan to look at inflammation in his bowel and to look at his liver. We were also sent home with several stool pots for samples.
Two questions...
Can you really get to this age with CF and not have major problems.
She also said that there has been loads of research done recently and his mutation which is 5T 7T can have 5T on one chromosome and 7T on the other and that makes a CF diagnosis, if the 5T 7T are together on the one chromosome he will be a carrier.
I am so confused and worried.
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Children's health
Late CF diagnosis
12 replies
NK346f2849X127d8bca260 · 24/03/2017 11:36
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