This is a recent story that appeared in the UK, concerning yet another young Moebius heroine, three-year-old Isabella Seddon. No--as her parents say in the article, they may never get to see her smile. But I do hope they come to know--Isabella's smiles will be there on the inside; they will come from the heart; and as is already happening, she will continue to amaze them. Read on:
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It's a magical moment for any parent, when their child looks into their eyes and beams the biggest, brightest smile.
But, for Carla Seddon and husband, Ged, that heart-melting moment will never happen.
Three-year-old daughter Isabella was born with a rare condition which means her facial muscles are paralysed.
“We will never see her smile,” says Carla. “And that is heartbreaking.
“To see that would be fantastic.”
But she says: “We will do everything we can to help her lead a normal, happy life.
“And we take joy in every milestone she achieves.
“She just amazes us.”
Carla and Ged were among those attending the first-ever conference for Moebius Syndrome, held at Alder Hey Hospital recently. Their aim, along with that of the Moebius Research Trust, is to raise awareness of the rare congenital disorder with which only one or two people are born in the UK every year.
“It is extremely rare,” says Dr Adel Fattah, consultant plastic and reconstructive surgeon at the Liverpool children’s hospital.
“And to have such a rare condition can be quite isolating,” adds Dionne Read, trustee of the Moebius Research Trust, which was set up to fund research and try to find a cause.
“The event was to allow those affected, and their families, to hear from experts and share information between themselves.”
There are thought to be only 200 cases of Moebius Syndrome - also known as Frozen Face Syndrome - in the UK and only 2,000 people worldwide.
The main features of the condition are determined by the absence of the sixth and seventh cranial nerves which control facial expression. These nerves allow us to blink and move the eyes laterally and, effectively, give us the ability to smile.
Other nerves and muscles can also be affected by the condition, causing difficulty in chewing and swallowing, speech impediments and limited use and/or deformity of the tongue, cleft or high arched palate and hearing difficulties and sensitivity to loud noises.
Eyes can be sensitive, due to the inability to blink or squint; missing limbs, finger or toes and club feet or small limbs.
Isabella was born on August 23, after IVF treatment for Carla, 40, and Ged, 47. But neither had any clue that anything was wrong until after their beautiful baby was born.
“It soon became clear she wasn’t breathing properly,” says Carla, “so she was taken to the special care baby unit.
“She just didn’t do much, she just lay there and was quite floppy.
“I noticed all the other babies were crying and looking around, but Isabella wasn’t. She just had a fixed stare.
“The doctors at the hospital didn’t know what was wrong with her.”
Because Isabella didn’t have a sucking reflex, she was fed via a tube through the nose, before a peg was fitted and, latterly, a Mic-Key button.
“She was transferred to Alder Hey at about six to eight weeks old,” says Carla, “and she made progress.”
Isabella went home from hospital at three months, but it was clear to Carla that, while she didn’t know what was the matter, something was wrong.
“I realised that she had a small tongue and a high arched palate and, because she wasn’t using the muscles in her face, I worried about her losing them.
“I went on to a search engine on my computer and, when I put in her symptoms, Moebius Syndrome came up.
“I took what I had found to the doctors and they said ‘congratulations, you have diagnosed your own child’s disability’.”
A brain scan at two revealed Isabella had fluid on the brain and a shunt was fitted to release the pressure and drain the fluid, a procedure which seems to have been successful.
Carla and Ged are still trying to find out as much as they can about the condition and making plans for the future.
“We are trying to get funding after finding out about a facial machine at a Cheshire Clinic which stimulates the muscles.
“This will stop them from dropping, which can happen if they are not used, and is better if we go ahead with surgery when Isabella is older.
“There is an operation which transplants thigh muscles into the face so that when someone then clenches their teeth, it creates a smile. They operate on children in America but, here, they wait until the child is old enough to consent, which I understand.”
Isabella can eat solids herself but has liquids fed directly into her stomach because her inability to swallow means they go into her lungs.
“There are times when it gets to you,” says Carla, “and, awful though it sounds, you just want a ‘normal’ child.
“But it’s a miracle Isabella is here at all and I count my blessings every day.
“She is a little behind her targets for development and she can’t talk properly, but we manage to communicate in our own little way. And she just amazes us every day.
“When she does manage to crawl, or walk as she did in April, it is a huge thing to us. And those milestones mean more than ever and we are overjoyed.”
Carla and Ged are trying to raise funds or get funding for talk tools – specific speech therapy for Moebius Syndrome children is specialised and very costly. Meanwhile, Carla is already working on a tried and tested system with Isabella, putting her fingers up to her mouth to create a smile.
“At the moment, it’s just a scary face,” says Carla, “but I’m happy with that.
“Then we will work on a sad face and a happy face.
“I just want our little girl to have as normal a life as possible, and we will do everything to help that happen.”
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