Moebius syndrome: The boy who will never smile

Choosing a name for our second child was hard but we finally settled on the name Isaac, which we especially liked because it means "he laughs" in Hebrew, and every parent wants their child to be a smiley, happy person. Ironic that choice was to be – for Isaac will never smile, blink or even frown.

When I walked into hospital to have a caesarean (Isaac was in the breech position) little did we know what a journey we were about to begin. Surgery was uncomplicated, and our first few hours with Isaac were relaxed and beautiful. Me, my husband and our perfect baby son were left in peace for hours before being transferred to the ward. Isaac's brother came to meet him a few hours later and, other than worrying about whether I would be able to see the last episode of Life on Mars that night, all seemed fine. That all changed as my favourite programme was about to start.

By 9pm that night, Isaac had still not fed properly and we started to be concerned. As he had still not fed sufficiently, every other hour we were woken to try to feed, and in between that time poor Isaac had a needle in his foot (eight times in total) to check glucose levels. When no amount of prompting could encourage him to feed, he was taken to special care at 3am and I was left alone, with no baby to cuddle, in a ward full of crying babies and feeding mothers. It took five days before we could go home and, even then, no one knew why he was having problems feeding.

The consultant paediatrician decided that Isaac should have some genetic tests to see if any specific problems could be identified. Investigations continued and we had two agonising weeks to wait to see what the tests revealed. We cried with relief when those tests came back negative. This relief was, however, short-lived. Although Isaac was feeding slightly better, I still instinctively felt something was wrong.

Over the next few months, Isaac developed well but his eyes were extremely turned in and did not move outwards. An appointment was made with the eye specialist, and we all thought the reason we were still waiting to see his first smile was because he had poor eyesight. Every day I hoped to see a smile from Isaac but, despite trying the usual peekaboo games, there was still no flicker of a smile. He had chuckled a few times and even laughed, but no smile lit up his face.

When Isaac was eight months, we had our regular check-up appointment with the paediatrician and he said he was happy with Isaac's development. I breathed a sigh of relief, as I still felt something was not quite right, and then just before we left, in the chaos of packing everything up and trying to keep two children quiet, the consultant dropped the bombshell that Isaac has a rare syndrome called Moebius. The eye specialist had recognised the symptoms, impressively, as the condition is so rare, and passed the diagnosis to the paediatrician. We were told that Isaac had a condition (of which there are only around 200 cases in the UK) that meant he would never smile, blink or move his face. When we asked what this meant, we were told that he was as he was and there was no cure and were sent on our way. Clutching a piece of paper with Moebius syndrome written on it, I started my quest for answers.

In this search, one thing was evident and that was there was little likelihood of finding a consultant who specialised in Moebius, as there were too few cases of the syndrome spread throughout the country and there has been no research into the condition because of its rarity.

At Alder Hey children's hospital, in Liverpool, Isaac is under the care of Dr Richard E Appleton, a consultant paediatric neurologist. Outlining the condition, Dr Appleton says: "Moebius syndrome was first described in 1982 by a German neurologist called Paul Julius Moebius. It is a rare condition and although it is always obvious from birth, it is often not diagnosed until the infant is many weeks or even months old. The main problems include paralysis of the muscles that control movements of the face and eyes. The paralysis happens because the nerves that make these muscles move, called the seventh and sixth cranial nerves, are abnormal. The abnormality always involves the nerves before the baby is born and doctors do not always know how it has happened. Sometimes a magnetic resonance imaging [MRI] brain scan will show a defect in the brain stem, but often the MRI scan is normal."

Children with Moebius syndrome may also have other problems, including involvement of other cranial nerves and particularly those involved with hearing, tongue movements and feeding. Children may also have malformations of one or both hands or arms, and, less frequently, of the feet or legs.

"Some children may also have slow development and learning difficulties when they start school," says Dr Appleton. "Currently, there is no treatment that can make the facial muscles move normally or correct any limb malformations, but there are medical and surgical treatments that can improve the movement of the eyes."

As there are so few people with this condition, the best source of practical information has been other parents and people with the syndrome whom I have met through the Moebius Research Trust (MRT). The idea of the research trust was hatched after two families, from different ends of the country, met at a conference held by the Moebius Support Group.

It became apparent that, although there was a lot of positive discussion about the condition, little headway was being made into discovering its cause. After a chance meeting with a geneticist in Edinburgh,it soon became clear that if enough families with the condition would be willing to come forward to help with genetic testing, then finding the cause of the syndrome was possible. We need a minimum of 75 people with the syndrome to take part and we are now just three cases short.

The trust also needs to raise £250,000 to get the research under way. A range of fundraising activities is taking place, the most exciting of which is a bike ride across America by Colin Read and Iain Whyte from the MRT. This ride will cover more than 3,000 miles and take 10 days. It aims to highlight the syndrome and raise funds through corporate sponsorship.

Isaac is now 11 months old and is a beautiful, happy little boy who delights in the company of his brother. We will never see his face light up with a smile but we know when he is happy, and he has a lovely giggle. He may be slightly slower to crawl and walk than other children but we are positive about his future.

As a baby, Isaac is unaware of his condition; however, as he grows, we will face different situations and we will have to negotiate each one carefully. Other families we have met share heartbreaking stories of their life with a growing and inquisitive child with Moebius. What do you say to a child who looks at you with a blank expression and says: "I am smiling at you mummy" and how do you cope with a teenager looking to experience their first kiss but who can't actually move their mouth sufficiently? While Isaac is our second child, many of the experiences we will encounter will be new. Wherever possible , we will try to draw upon the experience of other parents, through the MRT, but with Moebius each person can be affected differently.

We are determined that while he does have a disability, it will not be disabling. It is our hope that Isaac will lead a normal and fulfilled life and will continue to find other ways to communicate his happiness.

To follow Isaac's journey, go to www.isaachughes.blogspot.com

Sponsored bike ride, www.kiltsacrossamerica.co.uk

www.moebiusresearchtrust.org

About Moebius Syndrome

Moebius syndrome is a rare congenital disorder. There are thought to be only 200 cases in the UK.

The main features of Moebius 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 give us the ability to smile.

Other nerves and muscles can also be affected by the condition, causing the following:

- Difficulty in chewing and swallowing which lead to respiratory/dental complications

- Speech impediments/limited movement of the tongue (or deformity of the tongue)

- Cleft palate or high-arched palate

- Drooling

- Hearing difficulties and sensitivity to loud noises

- Eye sensitivity (due to the inability to blink or squint)

- Strabismus (crossed eyes)

- Missing limbs, fingers or toes, or webbed fingers and/or toes

-Club feet or small limbs

To date, there is no cure but families of those with the syndrome are hopeful that, with genetic research, a cause may be identified.