Health: Brave face

Published on Thursday 31 July 2008 16:55

Moebius syndrome may have paralysed George Read's face and left him unable to smile, but the energetic five-year-old has plenty to be happy about

DIONNE and Colin Read have never seen their son George smile. Birthdays and Christmases come and go without the little boy bursting into an excited grin, but that doesn't mean he's not happy. In fact, the five-year-old is more than content with his lot at the family home in Port Seton, East Lothian, where he lives with his parents and sisters Erin (two), Alex (14) and Kathryn (17).

George doesn't smile because he can't. He was born with Moebius syndrome, which means the muscles in his face are paralysed and he can't raise the corners of his mouth. He also can't blink or move his eyes from side to side. The condition means that is eyes are very sensitive to light, so he must wear dark glasses.

Moebius syndrome is a rare disorder – with only 200 cases in the whole of the UK and 13 in Scotland – and there is currently no cure. It affects the sixth and seventh cranial nerves, which control facial expression.

The condition often brings with it hand and foot anomalies such as club feet, respiratory problems, speech and swallowing disorders, visual impairments, sensory dysfunction, sleep disorders and weak upper-body strength. Most cases are sporadic, but there are reported cases of familial inheritance, suggesting a possible genetic basis. Despite all this, 38-year-old Dionne, a secretary, and her 44-year-old husband Colin, a photographer, are determined that George should lead as normal a life as possible.

When she held her newborn son in her arms in October 2002, Dionne thought he was lovely. "All I could see were his big blue eyes," she says. "It had been an uncomfortable pregnancy. I put on five stone and was sick throughout. He was an extended breech, with his head under my ribcage and legs spread out, so I had a Caesarean.

"When they lifted him out, there was a deathly silence and they took him away to a room where specialists examined him for 20 minutes. They indicated that further tests would be needed, as which point Colin suggested they 'wrap him up and give him back to his mother'.

"I never noticed anything different. I knew he wasn't blind because he was watching me, and I knew he wasn't deaf because he nearly jumped out of his skin when a nurse dropped something. He was a lovely baby. Very content and happy. He still is," she says.

But the tests continued, and five days later Moebius syndrome was identified. "We had no idea what was wrong with him, and there was nobody to tell us anything about Moebius," says Dionne. "We didn't know whether it was physical, mental, how to help him… It was bewildering.

"To be told that your child will probably be blind and deaf and all the other things could be really damaging to some people; they might take it as gospel. But we are a bit different. We are both quite positive people and believe that you can change things," she says.

Rather than take the diagnosis lying down, the Reads channelled their efforts into setting up the Moebius Research Trust with the aim of raising 250,000 for groundbreaking research into the cause of the syndrome.

Colin recently completed a 4,000-mile fundraising motorcycle journey across America with a friend to raise money for the trust, while award-winning author Nick Butterworth, of Percy the Park Keeper fame, is a patron. The plan is to find 100 people with Moebius syndrome who will agree to undergo DNA testing to help identify the causes.

"We set up the Trust in 2006 to avoid anyone having the same experience we did," says Dionne.

"We've got 81 people now who are willing to be tested, so we're nearly there. It might identify what's missing from the DNA. Something goes wrong in the fifth or sixth week of pregnancy, but they haven't located the gene yet. By testing the blood, and taking family histories and environmental factors into account, they might come up with an answer. If it's something simple, we can stop it happening."

George may not be able to smile or blink, but at five he can ride a bike, do the front crawl, is learning to read and write and is in mainstream education. He also does karate, drama classes and has lots of friends at school. "There were so many things we were told not to expect him to do," says Dionne.

"But he's been an inspiration. He was never supposed to touch sand or grass, but he did. He was supposed to hate loud noises, but in this family he's had to just get used to it."

Children with Moebius syndrome benefit from physical and speech therapy to improve their motor skills, co-ordination and control of speech and eating. Limb and jaw deformities can be improved through surgery, while transfers of nerves and muscles to the corners of the mouth have been performed to provide the ability to smile.

For more information, see www.moebiusresearchtrust.org

Living with Moebius syndrome

A FEW months after Angela Ward was born in 1966, her parents and doctors noticed that her facial muscles weren't performing correctly. She was diagnosed with Moebius syndrome shortly afterwards.

A squint was corrected when she was two years old and she has worn spectacles ever since. One side of her face remains paralysed, and she can only smile partially. "Because I have lived with it all my life, I'm quite used to it," says the 41-year-old care-home worker from Edinburgh's Colinton district. "My right arm doesn't go straight, I walk with a slight limp and I have glasses, so I was picked on throughout school. I hated it. Children can be cruel.

"I might feel happy, but I can't do a really happy smile. That has made me a little self-conscious and shy. I'm quite content, but I still live at home with my parents as I haven't met Mr Right yet. I don't think it's anything to do with the Moebius."

Angela has had some cosmetic surgery, and has an implant in her chin. "It was absolutely the best thing I've done," she says. "It wasn't a big procedure, but was delicate and done to enhance my features. It took away a little bit of a double chin and corrected the Moebius."

What advice would she give to George and anyone else with the condition? "I'd tell them not to let it bother them," she says.

"Believe it or not, there are good things about Moebius syndrome too, which you only come to appreciate as you get older. I might not be able to smile, but I can't frown either so I have no lines. Someone at work thought I was 28!"