waiting for diagnosis

[tanyaglenn]

I have a nearly 16 yr old son with Down Syndrome and Cystic Fibrosis, who has had

giant mouth ulcers, recurring for 12 months that swell his jaw to the point he can't eat, really worrying as he needs calories having CF lucky we have a feeding button, he had 6 weeks of nausea and vomiting, we thought it might be liver related as he has liver disease with the CF, also lung low grade infections which go hand in hand with CF , small red spots that often have tiny pimple like things that come and go on his body mainly legs, and yesterday woke with a red patch in his eye and swelling on lids, doctors have run every test and the endoscopy looked visually like coeliac but came back negative but had inflammation in his small intestine, villi damaged and creased, the doctors are baffled and now with the eye after sending photos to his specialist they now think maybe behcets syndrome, it could answer a lot of questions his bloods came back borderline for ANA which is inflammation after reading lots of articles everywhere I'm suspecting our questions could be answered. concerned about the eye the redness is dark and on his scolera the whites moving towards his pupil....any ideas here ? Its been so hard for doctors to diagnose as he has so many things going on and his speech is limited so i rely on trying to get some kind of clear communication from my son and he seems to have a high tolerance to being uncomfortable. I so feel for him he already has so much on his plate.

[Ant1974]

Depending where in the country you are, presuming it's the UK, there are 3 behcets's Centre for Excellence. London, Birmingham & Liverpool.

These are professor lead centres, ask for an urgent referral. They know more than our ordinary specialists, have access to treatments unavailable on the NHS.

If you are in the UK do not be fobbed off. It is centrally funded in conjunction with the behcets syndrome society, so costs the GP/CCG/ Nothing.

Alternatively email one of the centres and they will respond with an email you can present to your GP to refer you.

What the professors don't know about Behçet's disease, isn't worth knowing.

My GP referred in a heartbeat, not because it didn't cost them but because it answered the questions they were scratching their heads on.

[ColdNoodleSoup]

My thoughts are with you and your little boy. I can't fathom your pain and frustration. Hopefully treatment comes your way soon.

[tanyaglenn]

well so far they don't think he has behcet's, as he doesn't fit the ethnic group, as he is caucasian, and the eye they said was just a sub hemmorhage , but we have an apt with rheumatology and will investigate further, he has now continual giant mouth ulcers, they are doing a bowel test for inflammation. Very frustrating as he has a lot of pain.