A mum wants to raise awareness of a rare condition that saw her daughter in a wheelchair just nine months after she was diagnosed.
Amanda Smith, 41, from Bingham, says that her daughter, Ciara Cox, underwent a dramatic deterioration after she was diagnosed with Charcot-Marie-Tooth Disease (CMT) at the age of four.
The condition damages the peripheral nerves, causing muscle weakness and numbness in the feet, arms and hands. The mother-of-four wants other parents to look out for the signs, as she believes it took some time for doctors to diagnose her daughter’s condition.
She said: “We were referred to a variety of health specialists, but they couldn’t find anything wrong with Ciar,a and told me not to worry. “It wasn’t until we moved back from Buckinghamshire to Nottingham in 2009 that we got our answer when we visited a paediatric neurologist. The minute she set eyes on Ciara she said she had Charcot-Marie-Tooth.
“At first it was a relief to know what she had, and as we knew nothing about CMT, we thought there would be a cure, but we soon found out there wasn’t.
“Ciara was immediately given splints to straighten her feet out and we were told she would be in a wheelchair by the time she was 20.
“As fate would have it, Ciara was forced to use a wheelchair just nine months later.
“Ciara’s condition progressed very rapidly and she lost all muscle tone in her feet, ankles and calves.
“Sadly, Ciara can hardly walk unaided now and has to use a zimmer frame for short walking distances like getting around school”.
Ciara, who loves singing and swimming, is now 11 and is starting at South Nottinghamshire Academy in Radcliffe-on-Trent this month. Throughout September, the charity CMT UK is raising awareness of the condition, which can lead to problems like hammer toes, restricted mobility, and uncontrollable pain.
Karen Butcher, CMT UK’s chief operating officer, said: “Sometimes the symptoms aren’t so obvious, but due to the fact that CMT affects the hands and feet, it could be people have trouble balancing, find they regularly trip or fall over, and are constantly tired.
“Of course, while all of this could mean so many other things, if you have any of these symptoms then it would be a good idea to ask your GP about CMT.
“Early, accurate diagnosis can improve the lives of those with the condition as it can be managed more effectively.
“In addition, because CMT is genetic and there’s a 50 per cent chance it can be passed on from a parent to a child, then professional genetic counselling can also be received so the risks to the next generation can be learned”.
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Last Updated: Saturday 24th November, 2018