How extremely rare genetic condition leaves 11-year-old Amelia needing a wheelchair at any moment

Eleven-year-old Amelia Beaton suffers from a rare genetic condition which affects just 40 people in the UK.

“Eating and drinking is a real difficulty for Amelia,” says mum Lisa. “Amelia is in a lot of pain and has lots of gastrointestinal problems.

“It’s known as Little Britain syndrome, as in the TV show. It’s like the Andy character. One minute she can be running around, at her own pace, then she is exhausted and in pain.

“It doesn’t affect Amelia’s learning ability and it’s hard as she knows exactly what is going on. More often than not however, Amelia is feisty, cheeky and desperate to get on with things. She is very creative and likes to draw on her iPad. She bounces on her trampoline and loves to sing. She wants to be a singer or an actress. She is popular at school and we keep everything positive. But she has had so much time in hospital.”

Amelia, who lives in Knaresborough is the youngest child of Lisa, 45, and husband Martin, 52, an airline pilot. Their older children are Harry, 20, Jack, 17, and George, 13.

During her pregnancy with Amelia, Lisa had excessive amniotic fluid – which can be an indicator of a health problem – and reduced foetal movements. Nonetheless,

Amelia passed all her newborn health checks. But by the time she was two weeks old, Lisa had started to worry, firstly at her baby’s high-pitched cry, then struggles breastfeeding and her stiff body position.

“I knew something was not right,” Lisa recalls. “I asked my health visitor and she said after three boys I was letting my girl rule the roost. Around a week later I pointed out again that she was holding her head in a weird position. The health visitor thought it could be a neck problem caused by the position she was in during pregnancy. My GP started a referral to orthopaedics.”

Shortly after Lisa was undressing Amelia for a baby clinic check when a different health visitor asked if she could take her to see the GP on duty.

“The GP examined Amelia but didn’t give anything away. She just said she had some concerns and wanted paediatricians at the local hospital in Jersey, where we were living at the time, to see her urgently. She asked me to go straight there and not go home.

“At hospital, doctors took a full medical history and even asked if Martin and I were blood relations. Amelia was then taken for tests and an X-ray. I felt like I had been smacked in the face. As far as I knew we were just waiting for a referral for a neck issue. I remember when the doctors came back to us, I was so scared.

“The paediatrician suspected arthrogryposis, a stiffening of joints and muscles. He said we would need to see a specialist in London. He told me there is a form of the condition where children don’t live past the age of two and recommended us not to Google it. I did Google because it was impossible not to. I wanted to know as much as I could, to understand, learn and prepare as best I could. I also felt that having already been told there was a form where children don’t live long, that was already the worst possible news as far as we were concerned so I wanted to read positive stories, outcomes and experiences.

“It was hard seeing images of older children with the condition but like all things, there is a wide.  We went home and had a three-week wait before we went to London.”

Amelia saw a private orthopaedic consultant at the Portland Hospital in London and started a programme of extensive physiotherapy three times a day as well as therapy three times a week at the Children’s Development Centre.

She was referred to Great Ormond Street Hospital for tests and MRI scans. Amelia was seen by a neurologist, geneticist, physiotherapist, respiratory consultant and dietitian. A muscle test in June 2009 test showed Amelia most likely had congenital myasthenic syndrome.

Congenital myasthenic syndrome (CMS) is a neuromuscular genetic disorder characterised by muscle weakness that worsens with physical exertion. Affected children may experience mobility issues, owing to weakness in the skeletal muscles; problems eating, owing to weakness in the muscles used for chewing and swallowing; and problems controlling facial movement, owing to weakness in the facial muscles and muscles controlling the eyes and eyelids.

Amelia is believed to possibly have an extremely rare variation. In the UK, 40 families are affected by this genetic disorder. CMS is most commonly caused by autosomal recessive inheritance. This means that it has been inherited because both parents carry one faulty gene copy. Less commonly, CMS is passed on by one parent.

“I was naïve back then. For the first year I thought every time we went back to GOSH we would be told what was wrong with her. No one told us it would be such a long round with genetics so we were unprepared for how long everything took or that we would get negative results or just no fault found. We were back and forth to GOSH over the next few years.”

Amelia is now 11 years old. She has muscle weakness, fatigue and difficulty swallowing and eating. She has one-to-one help at school. She needs help with day to day activities such as personal care and cutting up her food. Her upper limbs are very tight, but her lower limbs are hypermobile. She can walk, but tires quickly so when she does, she uses her wheelchair.

“Last year we were in hospital for three months. It is hard on all of us. I would love to get a firm diagnosis. It is unlikely to be of use to Amelia’s treatment, but it would make a big difference to me – as parents you want to know you have done the best for your child.”

Charity’s support for family

The family has been supported by the charity MyAware, which funds residential family weekends.

The weekend provides the opportunity for families to mix, support each other and provides information that is vitally needed with such a rare condition. MyAware us supported by the Jeans for Genes campaign.

Jeans for Genes Day raises money for Genetic Disorders UK, the charity that aims to change the world for children with genetic disorders. Funds raised will go to the vital care and support they need.

Jeans for Genes Day takes place Monday-Sunday September 14 to 20 and invites everyone to wear their jeans to work or school and make a donation. www.jeansforgenesday.org.

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