Against all odds
Charlie aged 4, from Shoreham-by-Sea, West Sussex has Congenital Myasthenic Syndrome (CMS) caused by a fault on a gene affecting the structure of the neuromuscular junction.
In October 2005, proud parents Nick and Helen Bedford welcomed their newborn twins Charlie and Ned into the world, who became twin brothers to Alfie, then aged two. Over four weeks premature, twin Ned went straight onto the ward while little Charlie obviously struggling, went directly to the Special Care Baby Unit and was put on Continuous Positive Airway Pressure to help him breath.
Charlie, aged 4, is helping to raise awareness of children’s genetic disorders with the UK children's charity Jeans for Genes. Now in its 15th year, Jeans for Genes Day is on Friday 1st October and invites everyone to wear their jeans to work or school in return for a donation www.jeansforgenesday.com. Holmbush Primary School will be donning their jeans for Jeans for Genes Day.
The local district hospital, Worthing Hospital, maintained that nothing too serious was wrong, saying: “There’s nothing wrong with him, he’s just the slow twin” and that he would soon catch up. Unfortunately for the Bedford’s, it wasn’t that simple.
An eye consultant was the first to realise something was seriously wrong when Charlie was 15-months-old. The consultant referred the family on to the regional children’s hospital in Brighton - Royal Alexandra Children's Hospital. Fourteen months of tests later, Charlie was referred to the Evelina Children’s Hospital at Guys and St Thomas’ with a ‘suspected myopathy’ - a muscular disease in which the muscle fibres do not function. With none of the consultants knowing exactly what was wrong, it was a terrifying time for Nick and Helen. It took yet another six months before Charlie was finally diagnosed with presumed Congenital Myasthenic Syndrome (CMS). By the time he was just three, little Charlie had had a multitude of tests and investigations – including four general anaesthetics during MRI scans, muscle biopsy, and EMG nerve tests.
Congenital Myasthenic Syndromes (CMSs) are a genetically and physically diverse group of rare hereditary disorders affecting neuromuscular transmission. A fault in one of the many genes coding for the structure and function of the neuromuscular junction means that the signal from nerve to skeletal muscle doesn’t get across properly. Charlie’s condition makes repetitive movement difficult – the more Charlie uses a skeletal (voluntary) muscle the weaker it gets. CMS causes variable and fluctuating weakness and fatigue which particularly affects the face so Charlie has ptosis - droopy eyes - and his chewing and swallowing and also breathing are affected.
Now on the right drugs, managed by Nick and Helen, Charlie’s life is enormously enhanced but it is still a full time job to keep him well. Charlie takes a drug, Pyridostigmine, every three hours to ‘boost’ the signal to his muscles and prevent some of his fatigue. He even needs this at night, though while he is sleeping Charlie can manage up to six hours before his oxygen levels drop. The family will use a CPAP machine at home when he struggles with his breathing.
Charlie is extremely bright however and can appear very robust, so the condition - being able to do something one minute and not the next such as walking - is incredibly frustrating for him. He uses a wheelchair for distance, however he can run and jump in short bursts! His hands are particularly weak, so unfortunately he is unlikely to ever develop handwriting. Doubly incontinent he needs to be catheterised every three hours during the day. His health is so fragile he can get ill frighteningly quickly – a cold or throat infection can have life threatening consequences.
The whole family are involved in caring for Charlie - he takes three different drugs currently and this schedule is vital to keeping him well. Although planning things is very difficult for the Bedfords, with many hospital appointments and proactively managing Charlie’s fatigue levels into everything that they do, the family do everything together and Charlie can enjoy swimming, playing with his brothers and he loves eating ice-cream.
With setbacks earlier in the year hospitalising little Charlie due to issues of dropping his oxygen, it’s always frightening for the Bedfords not knowing what will happen. Charlie also has the stamina of an 18-month old and so therefore is a worry for his parents to know how mobile Charlie will be when he’s older and how to help him gain the independence he is so keen for.
Charlie however is determined, extremely bright and has a wicked sense of humour. He co-operates with the treatments, such as drugs and catheters, unbelievably well. He is both courageous and clever. He knows that the drugs make him feel stronger and reduce the pain in his joints and he desperately wants to be dry and no longer wearing nappies.
Charlie starts reception in September in a mainstream school. Achieving this has been another big journey, however he has a full statement of Special Educational Needs that includes a full time one-to-one support. He is a loving and generous spirit and very cheeky and Charlie’s parents are proud of him on a daily basis. They have absolutely no doubt he will excel at school. The effort he puts into everything is astonishing – despite how hard things can be. Things that others take for granted, like doing up a button or putting their hand up class, can be impossible for Charlie.
Nick and Helen’s hope for Charlie are the same as every parents for their children - for Charlie to grow up, be fully included in society, go to university, get a good job, get married and have children of his own.
Jeans for Genes has made a huge difference to the family and to all the families living with CMS in the UK. It has supported the Bedford’s and other CMS families in creating a virtual community where over 50 families from all corners of the UK are able to chat and share experiences. Jeans for Genes has even helped the family to develop a support group and hold a children’s weekend with over 21 families aimed at putting together an education resource to help parents get the support their children need in school.
Helen Bedford said: “As a small group it helps enormously to have a link to a highly visible charity like Jeans for Genes. It gives children like Charlie a voice at a national level. It gives us parents a voice too, and helps us to create the infrastructure we need to share information and learn from each other. When your child has an inordinately rare disease, just meeting someone else in the same situation, who has travelled the same path, can turn a situation from desperate to hopeful.”
Jeans for Genes is the UK children's charity that aims to change the world for children with genetic disorders. Now in its 15th year, Jeans for Genes has raised a staggering 35 million.
Jeans for Genes Day is on Friday 1st October and invites everyone to wear their jeans to work or school in return for a donation www.jeansforgenesday.com. The money raised will help fund vital care and support services for children and families affected by genetic disorders, as well as ongoing research into these conditions.
For more information on Myasthenic Kids www.myasthenickids.org