Living with Apert's syndrome

Mum Denise tells us about her son Billy, aged seven, and how surgery at Great Ormond Street Hospital (GOSH) for Apert’s syndrome has improved his quality of life.

Initial diagnosis

“We knew that something wasn’t right straight away when he was born. Billy’s a twin and I had them by caesarean section. Billy was whisked away and my husband was brought out to this little side room where the registrar said to him ‘There is something wrong with your son. His fingers and toes are fused together and obviously the skull doesn’t look right either.’ They were unaware themselves of what it was, they’d never seen a child like Billy before.

“Billy was transferred to Alder Hey Children’s Hospital in Liverpool when he was nine days old where the genetics team came and he had blood tests sent off. It was confirmed that he had Apert’s syndrome. It’s a craniofacial condition that causes premature fusing of the sutures in the skull and facial bones and also fusing of the fingers and toes.

“We were devastated by the diagnosis. It was a very difficult time because he was a twin and his sister was in the special care baby unit as well so we had one little baby on life support in one hospital and one in another and they were 55 miles apart. It was a case of - where do you go, who needs you the most?"

How will other people treat him?

“You’re always told don’t look on the internet, but of course we did. My husband went home and Googled it and he came into hospital to me and I could see he was really upset. I think, apart from knowing that Billy would have to go through a lot of life threatening surgery, the biggest thing for us was how he was going to be accepted by people because he looks different. Wondering if he was going to be bullied at school and ridiculed. That was the hardest thing to come to terms with."

Coming to Great Ormond Street Hospital

“My husband was working in the south east of England a lot which meant he was spending three or four nights a week away from home. We requested a move from Alder Hey – we asked for a referral to the craniofacial team at GOSH. They accepted us so we moved down and we have been with them ever since. It’s been fantastic the care with GOSH. We started a new life down here.

“The first consultant we met was Jonathan Britto and also the craniofacial nurse specialists Andrea and Kathy who are really nice. It was great, it was a bit daunting going to a new team but they are very supportive. And I think the roles of the craniofacial nurse specialists can never be underestimated - how helpful and how important they are for families. They are your first point of contact. If I have any concerns I don’t have to go to my GP, I just email Kathy or Andrea and they’ll either email me back or call me. It’s just really comforting to know that I’ve got them there.

“Coming here has been a really good experience. A bit overwhelming because it’s a lot busier hospital than Alder Hey but it was good, well organised and everyone is really willing to explain everything. You can go and have a consultation with one of the consultants and they will just explain everything to you and they don’t hide anything and keep you in the loop. I feel comfortable that I can go in and ask them questions and they will answer honestly and in terms that we understand as well."

Having surgery for Apert’s syndrome

“Billy has had a lot of surgery - craniofacial surgery, operations on his hands and feet, two shunts that go through into his brain to drain off excessive brain fluid. He’s got a tracheostomy as well so he’s had a lot of surgery to do with that. In total Billy’s had 53 general anaesthetics.

“The biggest treatment he has had to date was at GOSH in January. It was a craniofacial surgery with the RED frame (rigid external distraction frame). That was done to save his eyesight and improve his airway with a view to trying to get rid of his tracheostomy. But it also has changed the way that Billy looks. He has had quite a lot of plastic surgery and part of that involved having plastic surgery around his nose and pulling all the facial bones forward. It’s a big surgery where they cut the head open ear to ear. They take the forehead and mid face apart and put it back together again like a jigsaw.

“I think the biggest high for us really has been having that surgery – it sounds funny – but it has changed Billy’s life for the better. He’s had his face reconstructed. He’s never going to look like a ‘normal’ child but it’s made such a difference to his confidence. He is so happy with the way that he looks. Although it was a really difficult decision to go ahead with the surgery it’s just been worth it for him for the confidence he’s got. Also how other people see him and other children see him. To have other little kids in his school come up to me and say ‘Billy looks so much better’. One little boy said to me ‘He just looks like us now’. It was really good. I can’t emphasise enough how happy Billy is with how he looks."

Billy and twin sister Lois - Real story

He is full of life

“He has got the most amazing personality. He is full of life, full of cheek, really bubbly, and he’s got a fantastic sense of humour. I don’t think it really gets him down. He likes going to hospital because he likes flirting with the nurses. But he obviously doesn’t like the surgery because he’s frightened now, he’s at that age where he gets upset when he goes into the theatre room to have the anaesthetic. But apart from that he’s got such determination that he just gets on with life. He doesn’t really seem to let it bother him.

He is better now that he is walking. He’s not the best at walking because he can’t walk long distances but he didn’t walk until he was three and half. Physios had told us they thought he would never walk but he’s proved people wrong time and time again."

Preparing for surgery

“It’s been a really hard year, the surgery was tough and preparing for surgery was really hard. We did a lot of preparation work at GOSH with Andrea the craniofacial nurse specialist and also with the clinical psychologist Daniella. They were really good and we were offered the opportunity to come and talk to them as often as we wanted. We talked to the consultants and anaesthetists. They were brilliant. Andrea brought one of the frames in for Billy and all of us to look at and he had a good look. It was explained where it was going to go and put on his face. So we did all that preparation work and I am glad that we did because I think if we hadn’t have done that and he’d have just gone into theatre and come out with that on his face it would have been much harder.

We are looking forward to the next stage of hopefully getting rid of his tracheostomy. So we’re back in January. He goes back into theatre and the ENT consultant is going to have a look at all of his trachea into his lungs. He might have to have another surgery because he’s got a bit of a collapse of a cartilage ring. If all is ok we are going to go for a trial decannulation in February half term, which will be brilliant. There are no guarantees but we’ve always known that. It will be another chapter in his life."

Don’t do it alone

“If you have a diagnosis of a craniofacial condition, speak to other people in your situation because there’s plenty of information out there. Even on Facebook and social media groups there are charities that are specifically for children with craniofacial conditions which is really good. They have printed literature which you can get. Just tap into what is available.

“At GOSH there is always the clinical psychologists to talk to who have an infinite amount of knowledge about Apert’s syndrome and also the craniofacial nurse specialists are fantastic. Don’t do it alone, talk to people because it can be really lonely place if you don’t."

Thanks to the team

“I’d like to say a massive thank you to the team that looked after Billy and did his operation in January. It’s changed his life for the better and we can’t thank them enough for what they did for us and for Billy.”

Medical Conditions