Living with Crouzon syndrome

Ellie was born with Crouzon syndrome, a rare genetic condition that causes the flat plates of bone that form the skull to fuse together early in life, interfering with the growth of the skull and distorting the shape of the head. Here, her mum Louise talks about their experiences of visiting Great Ormond Street Hospital (GOSH) for numerous operations over Ellie’s lifetime.

“As a baby, Ellie would scream in agony because of the pressure in her head,” says Louise. “She doesn't remember the pain though - she had her first operation when she was just 18 months old.”

For children with Crouzon syndrome, increased pressure in the skull can also lead to problems with the optic nerves. The nasal tubes, teeth, throat and ears are also often affected in Crouzon syndrome which can cause further problems. Their eyes may appear to bulge if the fusion of the skull bones results in eye sockets that are too shallow.

“It never seems to be documented, but from a parent’s perspective, although you’re happy for your child to have surgery, in a way you grieve when you see photos from before. I still prefer some of the photos of Ellie with her big eyes. Anywhere in the world you see a child with Crouzon syndrome, as a mother you think ‘there’s my baby’.”

Frequent visits to GOSH

Now 17, Ellie’s had about 20 operations at GOSH, including head surgery when she was 10.  “We were hoping not to have the operation until she was a lot older but her cheekbones weren't supporting her eyes properly. We were at home and her eye popped out onto her cheek. It happened a few times, her right eye particularly, so she had the operation sooner.”

“I've always been quite strict about trying to time things in holidays, so Ellie didn't miss much school. We did have to move from one school to another because of bullying. Ellie didn't see a lot of it - it was parents talking. It made me angry; it still does I’m afraid.”

Major surgery

Ellie’s biggest operation was the RED frame, led by craniofacial surgeon David Dunaway in 2006.

The operation took eight hours and involved fitting a halo made of light titanium to the outside of Ellie’s head and attaching the halo to her skull with screws. Turning the screws regularly helps pull the bones in the face forward.

“There was a huge risk with the operation, but we never felt it. I’m sure some parents do, and go off and fret about it. I fretted more about the pain Ellie would feel afterwards. We turned the screws every day to bring the bones forward and make sure they grew in between. We were in hospital for two weeks after the operation, and the whole process took three months.”

Looking ahead

Ellie is currently studying Graphic Design, Textiles and Media Studies, and visits GOSH four or five times a year. She is soon to have orthodontic treatment to widen her mouth and move her teeth.

“There’s still pressure in her head and behind her eyes. She has quite a deviated septum on the inside and no air flow through one nostril. Because she breathes through her mouth, she can’t eat with her mouth closed. We’re hoping her next surgery will help with the air passages as well.”

Ellie has also been actively involved with Great Ormond Street Hospital Children’s Charity, in particular the operating theatres appeal, which aims to raise £250,000 to help with the development of two new state-of-the-art operating theatres.

“We've done some fundraising in the past and we’ll do more in the future. As she gets older, she’s at a time where she should be going to another hospital, but she wants to stay under the team at GOSH. Her surgeon is really lovely, and the hospital is her second home and she knows everyone. We can’t rate it highly enough.”

Medical Conditions