Our 16 year old son has just been diagnosed with Pitt Hopkins Syndrome and we are trying to find other families with a child with this diagnosis. A blood test has only recently been developed so we are imagining that when this is offered to more children there will be a few new families looking for contact soon.
Christopher has severe learning disabilities and hypoplasia of the Corpus Callosum. He is hypotonic , non verbal and in nappies. All his motor skills are very delayed. He sat about 2 1/2, crawled at 4 and walked at 9. He is just learning to stand up from the floor at 16.He's a very happy child and both male Rett's and Angelman's have been considered in the past by doctors in the UK and the Netherlands (where we now live) but were ruled out.
The first year of his life no one would believe us there was something wrong and he was described (in Germany where we lived at the time)as a heavy ,lazy baby and me an over anxious mother who shouldn't compare children! When he was 1 we were told he may never walk or talk, we would just have to wait and see. Since then we have been hoping for a diagnosis so we could make contact with other families but realised that in many cases with severe learning difficulties this is never found. To find a diagnosis just days before his 16th birthday was a big shock. It's terribly frustrating now that we have not been able to find any other parents to share with. I'm posting now in the hope some other parents will be searching too having just got the diagnosis and might find this e mail in the archives!
We have just been tested and have to wait till they get enough people to test (as the tests are expensive) to find out if we are carriers or whether Christopher has a de Nouvo mutation.The fault is on chromosome 18. We have 2 other boys who have normal development.