Billy's story - Jeans for Genes

Billy's story

Six-year-old Billy was born with a rare genetic condition called Apert syndrome, a craniofacial disorder caused by a defect to chromosome 10. Apert syndrome causes the sutures in his skull to fuse prematurely, making his head large and abnormally shaped. He has undergone close to 50 operations, both to help his brain grow and to cope with related physical issues, such as problems breathing.

When Billy was born, the doctors didn’t expect him to survive the night. He was transferred to Alder Hey Children’s Hospital in Liverpool for life-saving surgery, and now he is a determined little boy, living life to the full, at a mainstream school. He’s even been sledging on a family holiday.

When mum Denise was pregnant with Billy and his twin sister Lois, she was sure something was wrong. Towards the end of the pregnancy the weight of the babies’ heads caused considerable pain. But it wasn’t until their delivery at 36 weeks that doctors picked up on a serious problem. Billy was born first and wasn’t breathing.

‘Billy was taken straight to special care and I remember looking at him thinking he looked really very ill. He almost looked plastic and his hands and feet were not normal. The doctors suspected the genetic condition Apert syndrome and we were told they didn’t think Billy would make it … the next thing I knew Billy was transferred 55 miles away to Alder Hey Children’s Hospital for surgery.’

The next day, doctors and geneticists at Alder Hey confirmed Billy had the facial features of Apert syndrome. As well as the fusing in his skull, the bones in his hands and feet were also fused. Billy needed stents in his nose as he couldn’t breathe or feed and he was still on a ventilator.

Until the age of three, Billy was in hospital constantly with infections and for operations. Since then he has started to make progress but still faces health challenges and further major surgery. He had emergency surgery again in July 2012 to replace the shunt and extract his skull on the left side to make room for his brain to grow.

Denise and the family now live in Hertford. ‘He is a charming little boy. Everyone loves him. We were quite adamant that he go to a mainstream school as a lot of children in special needs schools are non-verbal and we wanted Billy to be around children talking and to be with his twin sister.

‘Billy likes books and stories and is obsessed with cars. He is very much a little boy. I am really proud of him and his strength of character. He has had 49 general anaesthetics. It is phenomenal what a person can put up with and still smile.’