Acle boy’s mission to highlight little-known Charcot-Marie-Tooth (CMT) syndrome
PUBLISHED: 10:00 30 August 2012 | UPDATED: 11:57 30 August 2012
Archant Norfolk Photographic © 2012
An 11-year-old boy who has a common but little-recognised neurological disorder is making it his mission to raise awareness of the condition.
Charcot-Marie-Tooth (CMT) disease:
is not life threatening
affects people very differently, even within the same family
slowly gets worse over time (is progressive), causing gradual deterioration of both the motor nerves and the sensory nerves
this deterioration causes the atrophying of the muscles in the foot, lower leg, hand and forearm
can cause foot drop walking gait, foot bone abnormalities (including high arches and hammer toes), problems with hand function and dexterity, balance problems, occasional cramping in the legs and arms and loss of some normal reflexes
may cause long term pain and chronic tiredness
is usually passed on from parent to child, with a 50pc chance of the child inheriting the condition
is thought to affect approximately 23,000 people in the UK
Affects all ethnic groups equally throughout the world
Is the focus of major research, all over the world
Jacob Trower, from Acle, has Charcot-Marie-Tooth (CMT) syndrome, which is estimated to affect 23,000 people in the UK and is currently incurable and steadily progressive, causing muscle weakness in the lower legs and hands.
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. Scoliosis is common and there are other orthopaedic complications, leading to a variety of mobility and dexterity problems.
Jacob, who lives in Sydenham Close with his mother Sara and younger brother Josh, said: “I have never met anyone who knows about it, no one in hospital even. I just want to make it more well known about, because there are lot and lots of people out there who have got it but nobody has a clue what it is.”
Jacob, who starts at Acle High School next week, was only diagnosed 18 months ago and underwent an operation on one of his feet in June to make it easier for him to walk. After spending eight weeks of the summer in a wheelchair, he is now up and about, but will have to undergo another operation on the other foot next year. He wears leg splints, which can be painful if walking far, as without them he is unstable and can fall over.
Miss Trower, who works for Haven Holidays in Great Yarmouth, said: “My dad had it but it was never diagnosed and he was told he had muscular dystrophy and that he couldn’t pass it on, but CMT is inherited.
“So few people, even doctors, know about it and the earlier you are diagnosed the better.”
Charity CMT UK, which helped Jacob and his mother to find out more about the condition, is trying to raise awareness during September.
The campaign is being backed by medical professionals including leading neurological expert Professor Mary Reilly.
She said: “CMT does not describe 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 therefore many people put up with CMT for a long time thinking that they are clumsy or have funny feet, suffering in silence when they could be receiving help and support.”
To find out more about the charity CMT UK, visit www.cmt.org.uk