CMT mother and daughter speak out
Monday 2nd September 2013, 12:11AM BST.
A mother and daughter who share a genetic disorder which can leave passers-by thinking they are drunk have spoken out in the hope of raising funds for research.
Emily Haylock, 21, has Charcot-Marie-Tooth disease (CMT), a group of inherited disorders that damage nerves outside the brain and spine.
Around 23,000 people in the UK are thought to have the disease which can cause motor symptoms such as muscle weakness, an awkward gait and curled toes.
Sufferers can also experience numbness or pain and the condition is incurable and progressive, meaning symptoms get worse over time.
Ms Haylock and her mother, Amanda, from Bridport in Dorset, both have the disease, with Emily suffering particularly badly.
She said: “CMT affects my life in a variety of ways. My walking is very limited, although some days are worse than others, and I use a mobility scooter to get into town and around the shops. I also have to rely on other people to do things for me at times and this is difficult as I would like to be more independent.
“It is hard to get a job because of my strange gait – I have very deformed feet that I’m having surgery on in September.
“What I also find is that when I first meet people they can act strangely towards me because they think I’m drunk. Emotionally this can take its toll.”
Mrs Haylock, 50, a p rimary school teacher, was not diagnosed herself until she was 40 and has mild symptoms.
She said: ” Emily proved to be a real ‘bulldozer’ of a toddler. She crawled early, was out of nappies at 20 months, ate like it was going out of fashion and was determined to do anything her elder sister did and more.
“Then when she was three everything changed. She became withdrawn, refused to eat, would not have a go at anything.
“Her father and I were distraught. We could not understand what had happened to our beautiful, gregarious little girl.”
A paediatrician concluded that Emily would not walk because she had behavioural problems.
“We responded accordingly whenever Emily refused to walk when we were out,” Mrs Haylock said.
“Her inability to walk seemed to come and go. She would have periods when it was very difficult and then for a long while seemed to have no difficulty at all.
“She started secondary school and seemed to be getting on well until one day we noticed her posture wasn’t quite what it had been. Back to the GP who correctly diagnosed scoliosis. She eventually had corrective surgery but the problem with her walking didn’t improve.
“It was my mother who suggested CMT as her brother had been diagnosed with it many years before. We googled it and were amazed to see descriptions of Emily’s symptoms.”
Genetic tests have shown that Mrs Haylock, Emily and her sister all carry CMT, as do Mrs Haylock’s sister, brother, niece and nephew.
“The diagnosis has been wonderful both for Emily and us,” Mrs Haylock said. “We knew she wasn’t a badly behaved child and to have it confirmed that there really was something wrong with her was a great relief.”
Karen Butcher, from the charity CMT UK, said: “There is still so much to be learned about CMT and, while we’re on the right track, extra funding will help us accelerate the research process.
“We would really like people from around the UK to support us by raising money to fund clinical trials and to enable us to offer ongoing support to the thousands of people we already know are affected.
“Our support services see us offering advice on managing the condition as well as help with benefits, jobs and family issues, but we’d like to improve these further.”
Professor Mary Reilly, from the National Hospital for Neurology at University College London, said: “CMT has many different characteristics but, commonly, there is a loss of muscle and touch sensation, predominantly in the feet and legs, but also in the hands and arms in the advanced stages of disease.
“These lead to a range of orthopaedic complications, leading to a variety of mobility and dexterity problems and sometimes scoliosis (curved spine).
“It is important to determine exactly what kind of CMT someone has in order to improve their quality of life and this can only be done once a diagnosis is considered in a patient.
“Anecdotal evidence from CMT UK tells us this takes much longer than we would like and many people put up with CMT for a long time thinking they are clumsy or have funny feet, suffering in silence when they could be receiving help and support.”