Nicolaides Baraitser Syndrome (NCBRS)

Harley's story (born 2005)

Harley was born on the 28th April 2005, he was full term and weighted 4lb 10, I knew he looked a little different to our other children but the hospital discharged us without any follow up appointments, we just got on at home the best way we could.

Harley was a very poor feeder and didn't gain much weight, he had hernias and undescended testicles , he was operated on at 15 weeks old ! After lots of complaining and visits to the doctor we were referred to a geneticist ! Harley started with epilepsy at 13 months , he had several days at a time of cluster fits which were a very worrying time but he always bounced back to be his smiley , bouncy , happy self !!

He was diagnosed with NCBRS at 3 years old , we knew nothing of the syndrome only what we faced with Harley, The last 10 years have been a challenge but also a learning curb, Harley may not be able to talk, go to the toilet, feed himself but that never stops us being grateful that he is ours, we admire his courage , happiness and his zest for life