LMBBSLaurence-Moon Bardet-Biedl Syndrome
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Now 28, James is facing blindness - he will receive a guide dog called Wally this week - and he has been told that he, like the handful of other people with Laurence Moon Bardet Biedl (LMBB) syndrome in Wales, will not be allowed to attend a new half-day clinic once a year held in either London or Birmingham.
James has not had any ongoing medical care from a clinician with expertise in LMBB syndrome since he was 17, when he was discharged from paediatric health services.
It is a rare inherited disorder which affects about one in 100,000 babies born - it is thought that there are about 25 to 30 people with LMBB syndrome in Wales.
"I took it upon myself to get in touch with different support groups and I was given a helpline to ring and that was the start - everything James had seemed to fit with LMBB.
I went to the LMBB society's conference in Coventry and by the time I saw the geneticist I knew more about it than she did."
"The thing that I and 99% of other families who have children diagnosed with LMBB can't cope with is the fact that they lose their sight, because we can't comprehend it ourselves.
A Welsh Assembly Government spokeswoman said about access to the specialist clinic: "The Welsh Assembly Government provides funding and support for specialised services for rare diseases such as Laurence Moon Bardet Biedl Syndrome (LMBB).