Many doctors ‘not aware’ of genetic condition Charcot-Marie-Tooth
PUBLISHED: 17:23 05 September 2018
September is Charcot-Marie-Tooth Awareness Month. Singer Cheryl Tweedy helped spread the word about this little-known genetic disorder last year but campaigners say more work is needed. Sheena Grant reports.
Steven Meen was just 14 when he first went to see a doctor about problems walking and weakness in his hands but it to be almost 20 more years before he found out what was wrong with him.
Aged in his early 30s, Steven was finally diagnosed with Charcot-Marie-Tooth (CMT), a little-known genetic, neurological disorder that can cause uncontrollable pain, chronic fatigue and deformities in the hands, lower legs and feet, leading to balance problems and falls.
The condition is thought to affect around 23,000 people in the UK but campaigners say many people are undiagnosed and too many health professionals still have no idea what CMT is. It’s one of the things they are working to address this September, which is CMT Awareness Month.
Charity CMT UK says a social media post last year by former Girls Aloud singer and X-Factor judge Cheryl Tweedy, about a friend whose son had recently been diagnosed with the condition, helped get the message out there but more work remains to be done.
Steven, now 57, who lives in Mildenhall, says the doctor he saw when he was a young teen didn’t really know why his feet were dropping and his hands weak and told him, if it wasn’t causing a great issue, don’t worry about it.
“I was quite fit when I was younger,” says Steven. “I did a lot of walking, was in a scout marching band and embarked on a manual career a wood machinist. It wasn’t until I was in my early 30s that the people I was at management college with asked what was wrong with me, so I investigated further. I had a whole host of tests, including genetic tests, and found out I had CMT.
“When I was diagnosed I felt a bit numb but my wife asked: ‘What’s the difference between today and yesterday? It’s just now you have a name for it’.
“Within a month, I was in hospital having the first of three operations on my feet, which involved lengthening the Achilles Tendon to straighten my foot out, having all my toes broken, and tendons cut and lengthened to straighten them – with mixed results. On one foot this work to my toes has been done twice, and that has worked in that they are a lot less painful.
“Currently, I have the usual drop foot associated with CMT and I wear splints/leg braces. It makes life a little more comfortable as I don’t have to lift my feet up as far when I walk. I also have the usual weakness in my hands, which can make it difficult to open things or do up buttons. In winter, if I get cold, my hands are useless, so I make sure I wear gloves.
“None of my family have CMT that we know of – possibly a distant uncle on my mother’s side, but we didn’t really know.”
Coincidentally, Steven currently works for Illumina Cambridge Ltd, which supplies genetic testing equipment.
“We make the machines that read DNA and gave me the confirmation I have CMT,” he says.
Charcot-Marie-Tooth, named after the three scientists who discovered it, is not life threatening but is steadily progressive and for many, will significantly reduce quality of life. Some people may even end up as wheelchair users.
As well as raising awareness among health professionals, this year’s campaign also aims to highlight the symptoms of CMT among people who have the condition but have not yet been diagnosed and raise vital research funds.
CMT UK’s chief operating officer Karen Butcher, who can trace the condition back six generations in her family, said: “There are still too many medical professionals including GPs, physiotherapists, orthotists, surgeons – and even neurologists - that still don’t know what CMT is.
“It is also important for us to reach those people who haven’t yet been diagnosed. Sometimes the symptoms aren’t obvious, but due to the fact that CMT affects the hands and feet, it could be they have trouble balancing, find they regularly trip or fall over and are constantly tired. For some women, a telling sign is that they can’t wear high heel shoes due to high arches and hammer toes.
“There could be many reason for symptoms like these, but if you have them it would be a good idea to ask your GP about CMT - early diagnosis helps improve the lives of those with the condition and because there’s a 50% chance it can be passed on from a parent to a child, professional genetic counselling can also be given.
“We know it’s an ambitious strategy but ideally, we’d like every new person told they have CMT to be automatically referred to us at the point of diagnosis, so we can offer our support and advice.”
Find out more at www.cmt.org.uk, contact 0300 323 6316 or donate by visiting www.justgiving.com/CMT.