CMT disease isn’t holding me back, says Oswestry youngster
Like many young girls 11-year old Aaliyah Jones started secondary school last week, looking forward to a new challenge in her life.
But Aaliyah, from Pant near Oswestry, has more challenges to face than meeting new friends and stepping up to new ways of learning.
For she suffers from a rare disease called CMT, or Charcot-Marie-Tooth, which can cause balance problems and falls as well as chronic fatigue. About 3,000 people in the UK have been diagnosed with the illness, and a charity supporting sufferers believes there are up to 20,000 others who are going without specialist help.
CMT, named after the three scientists who discovered it, is incurable. It causes muscle weakness in the lower legs and hands, leading to problems with restricted mobility, uncontrollable pain and difficulty in carrying out tasks needing fine motor skills, such as fastening shoe laces.
Aaliyah’s mum, Paula Jones, said she knew that her daughter had balance problems from a very early age, but said it had taken until very recently for the CMT to be diagnosed.
“It was a physiotherapist from the Orthopaedic Hospital that noticed something was wrong and suggested CMT,” she said.
“It turns out that both myself and Aaliyah’s dad have the genes that have led to her having what is an inherited neurological disease. But we have asked our families and they don’t remember anyone having the condition,” she added.
Mrs Jones said that her daughter not only had mobility problems but did not have the same nerve sense in her hands and feet. “It means she might not be able to feel heat and could suffer burns if she touches something hot,” she said.
However, CMT has not stopped Aaliyah, who is now a pupil at Llanfyllin High School, enjoying life and she has found a sport that she enjoys in tennis. “She might not be as quick to the ball as others but her coach says she has a very good eye/hand control,” Mrs Jones said.
Karen Butcher, from the charity CMT UK, said: “We want to reach out to people who may not be members of CMT UK and urge them to get in touch.
“We know what they’re going through and the challenges they face, so we can answer their questions, put them in touch with other people and families with CMT and tell them where they can get help and advice.
“For CMT UK, reaching even a fraction of the missing 20,000 would open the possibility of increased membership and fundraising to support our services. In addition, as CMT is extremely complex – with approximately 80 different genes causing the condition – some people could even help with valuable research, as there is still so much to learn about this rare condition.”
Neurological expert Professor Mary Reilly said: “It is not a single disorder, but a group of conditions. 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 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.”
To find out more about the charity visit www.cmt.org.uk or contact 0800 652 6316.
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