» Charles Blockley

My name is Charles, (or Charlie) and I live in Derbyshire with my wife, Natalie, and two boys Arthur and Seth. Our eldest son, Arthur, was diagnosed with CdLS in 2015 when he was aged 9 months. His head circumference at birth was the first indication we had that something wasn’t quite right and after a referral to a geneticist he was first clinically diagnosed, then a mutation on the NIPBL gene was found through saliva testing. Upon receiving Arthur’s diagnosis, we were told, “Don’t Google it, that will only worry you.” That was the extent of our support and counselling from our local health trust, so of course we did Google it and luckily came across the Foundation Charles and familywebsite which then provided us with information, books and the DVD, all of which helped us and our wider families to understand the situation and be better prepared for the journey ahead.

We have been attending the CdLS Foundation UK & Ireland conferences since we received that initial diagnosis and have found the support and information gained there to be invaluable. Walking into the reception at a hotel in Guildford for our first conference was one of the hardest and scariest things we have had to do, and being met at the door by one of the trustees who saw Arthur and could tell we were there for the conference was the first time that it really hit home that Arthur was different to typical children. Since that day we have been firmly tied to the Foundation and find that giving help and advice is just as useful to us as receiving it. Natalie is also involved in the Foundation in her role as the regional volunteer for the Midlands.