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).
Call Pat at 746-6312 to schedule an appointment, or visit lmbb
.org for more information.