Hi Emma, I am so sorry to hear of the problems your poor son is suffering from and realise how upset and frustrated you must feel. Your GP was right to refer you to the local paediatrician but now that he has been diagnosed, the paediatrician should have referred you to an endocrinologist (an expert in CAH). It is a rare condition and should not be managed by a general paediatrician alone. Dr Nurus-Sabah Alvi is the paediatric endocrinologist at Leeds (she is fairly new and not someone I know but I am sure she has the relevant experience). I think you should request a referal to her, either through your GP or the paediatrician. You can tell them that you have been informed by the CAH Support Group that all children with CAH must be seen by an endocrinologist, which they won't be able to argue with! It is your right under the patients charter to request this and will ensure your son gets the medical attention he deserves.
The symptoms your son has suffered are typical of someone diagnosed late in childhood (rather than at birth). He may be tall now but he will no doubt have an advanced bone-age and therefore could end up as a short adult, if not monitored properly. His hormones are all over the place, obviously causing him distress and no doubt could be responsible for his behavioural problems. As well as ensuring he does not go into full puberty, which is what an endocrinologist will do, your son will also have access to a paediatric psychologist at Leeds, who is part of the team there and who understands the condition and can help him.
Don't be afraid to request the referral, you really are entitled to it! In fact we held a conference last month and concern was raised that there are still general paediatricians trying to look after children with CAH, when they do not have the relevant experience. These children do not do as well as they should as however 'nice' the paediatrician is, he just does not have the knowledge this condition requires to treat it properly.
On a positive note, I have a 19 year old son, also on Corlan - he is extremely well and happy, being of average weight and height but he has received good care. If your son has CAH, he does need Corlan (or hydrocortisone equivalent) but if the dose is not titrated properly, side effects can occur, which is why it is important to see an endocrinologist, so your son can do well too.
I am reluctant to put my e-mail address on this site, as I have a lot of problems with spoof/spam mail, due to posting it before. If you look on the UK website www.cah.org.uk my details are posted there (Sue Elford). I will be happy to e-mail you direct or speak to you on the phone, if you prefer.
