Genetics Clinic

Today Sam had an appointment in the Genetics clinic at the Norfolk and Norwich hospital (N&N). The geneticists from Addenbrookes hospital regularly hold clinics at the N&N.

We have waited 3 years for this appointment, we were told at the last meeting in 2005 that new tests would be available in the next few years and we should wait.

So we have waited and waited.

I went along today hoping that we would finally be able to get a diagnosis for Sam. I don't know why I bothered going though.

As Sam hasn't lost any skills (can't say he's gained many either though !), and he doesn't have any dysmorphic features (both consultants had a good look at his fingers !) they really don't think they can do any more testing at the moment. But they did take a few photos of him and said they would discuss him at a team meeting.

Guess we are going to have to wait some more !!