Rare ‘invisible’ disease leaves adults with strength of a child and wishing they never have kids in case they pass it on and 20,000 Brits remain undiagnosed
Charcot-Marie-Tooth disease leaves many 'thinking they are clumsy or that they were born with funny feet' for years, experts have said
CASES of a rare and incurable disease that leaves adults with the strength levels of children are on the rise – with up to 20,000 Brits undiagnosed.
Experts believe as many as 23,000 Brits have the debilitating Charcot-Marie-Tooth (CMT) disease – but only 3,000 are aware they have it.
The inherited disease is currently incurable and symptoms can get worse every single day, yet many GPs have no idea CMT even exists.
Sufferers have told The Sun Online of feeling numb in their arms and legs and complete weakness until some are eventually restricted to wheelchairs.
Yet many struggle to get help as doctors fail to spot it, leaving them desperate and in pain.
One woman, who was only finally diagnosed aged 78, said she wished she’d never had children, after learning she had passed it on.
Indeed experts fear for every one patient diagnosed, CMT can be passed on to at least four other family members.
Melissa Howarth, 21, from Redhill, Surrey, was bullied throughout her school years because she “walked funny” and couldn’t wear normal shoes like her peers because of the high arches in her feet.
She told The Sun Online: “I feel so weak a lot of the time. Even carrying myself is such a struggle.
“At my last check-up, I was told that I am as strong as a nine-year-old because my muscles are just wasting away.
“And it got worse after I was diagnosed in 2009. I had spent playtimes, constantly falling over and tripping over my own feet.
“My classmates used to laugh at me because I couldn’t catch a ball and play with them. Eventually the teachers got sick of me and kept me in the medical room.
“But I was later banned from playing in the playground. The dinner ladies wanted me to spend lunchtimes sitting right next to them because they were ‘sick and tired of the clumsy girl’.”
Although Melissa does have some good days, a lot of the time she feels a numbness in her arms.
“It’s so weird because it starts off with me being unable to feel, and then suddenly it becomes really painful.”
WHAT IS CHARCOT-MARIE-TOOTH DISEASE?
- Charcot-Marie-Tooth (CMT) is a steadily-progressive genetic and neurological disorder that causes immense pain, chronic fatigue and deformities in the hands, lower legs and feet.
- The disease is named after those who first described it; Jean-Martin Charcot, his student Pierre Marie and Howard Henry Tooth.
- Muscle weakness and wasting usually starts in the lower legs and feet, creating problems like hammer toes, restricted mobility and uncontrollable pain.
- But the hands and fingers are also affected, making tasks like tying shoe laces and fastening buttons very difficult.
- It also causes damage to the senses. Most people with CMT experience numbness, decreased sensitivity to heat, touch and pain in the feet and lower legs.
- There is currently no drug treatment that can stop the progressive condition. It gets gradually worse.
- Some experts are campaigning for doctors to become more informed of the symptoms, as many sufferers are misdiagnosed for years.
Melissa was lucky enough to be diagnosed at such a young age, even though it took her hundreds of medical trips to her GP, before her symptoms were taken seriously.
Her doctor “would always just brush off the bad bruises saying ‘oh just get an X-ray’, or ‘just try to walk a bit slowly'”, and it didn’t get any better once she was diagnosed.
She said: “My classmates at secondary school would tease me and call me a liar, saying I have to prove that I wasn’t well.”
Valerie Bradley, 79, from Worcestershire, had been forced to spend her entire life battling a range of painful disabilities because she was only diagnosed last year.
Her doctors simply passed her off, with one saying, “you have so many things wrong with you I don’t know where to begin”.
She said: “CMT has left me without reflexes in my legs and arms so I often just feel numb.
“But what hurts me more is that, I was only diagnosed last year, at 78 years old, despite having these symptoms my entire life.
“If I had known that this disease is hereditary, I would not have had children.
“My 55-year-old son died last year of sepsis, after suffering a range of disabilities that all stem from CMT.
“And my 50-year-old daughter had to retire at the age of 45, because her CMT symptoms left her crippled in so much lower back pain, she couldn’t lead her police force.
“Should I have to put my two beautiful children through this, because doctors didn’t do their job properly and fully assess me before.
“There are kids that are young and diagnosed early, but because of my age they continued to pass me off.”
Like Melissa, Valerie was labelled the clumsy child at school.
“I struggled at PE because I couldn’t even hit a ball, let alone properly throw one. And running was difficult because i was just constantly falling over.”
Karin Rodgers, 55, who runs the charity CMT Kids, feels guilty whenever she looks at her son because he has inherited the condition.
She told Sun Online: “My dad had it, and I always thought ‘why can’t I have a normal dad like everyone else’.
“But over the last 10 years, my symptoms drastically worsened. To the point where I literally feel like a disability, not a person.
“Most days, every bone in my body aches, and I’m in so much pain I can barely walk. I just feel so weak, that with every step I’m about to fall.
“The disease is ongoing and I have definitely lost my sense of identity, especially now that I can’t work and my diary is full of hospital appointments, not lunch dates with friends.”
Experts believe with every one diagnosis of CMT there will be at least four others because the condition runs through families.
Dr Gita Ramdharry, an NHS Consultant Allied Health Professional in Neuromuscular Diseases told Sun Online: “This is more common than we think.
“Some people will have very mild symptoms and not know they have it, like have funny feet and cold hands. But others will be left in wheelchairs.
“It leaves people feeling very isolated because no one understands what’s wrong.
“They can’t get an answer. So getting a diagnosis is fundamental for suffers to get that understanding and validation.”
Karen Butcher, chief operating officer of charity CMT UK said: “There are still too many medical professionals including GPs, physiotherapists, orthotists, surgeons – and even neurologists – that still don’t know what CMT is.
“Sometimes the symptoms aren’t obvious, but it could be they have trouble balancing, find they regularly trip or fall over and are constantly tired.
“Fore some women, a telling sign is that they can’t wear high heel shoes due to high arches and hammer toes.”
Professor of Clinical Neurology and Consultant Neurologist at UCLH, Mary Reilly, also Patron of CMT UK said: “CMT has many different characteristics.
“It does not describe a single disorder, but a group of conditions.
“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.”
CMT UK called for physiotherapists to help patients manage the condition, after it revealed 20,000 people in the UK may be suffering in silence.
Ms Butcher added: “People with undiagnosed CMT may be seen by a physiotherapist and we would really like them to be aware of the condition so patients can get a quicker diagnosis if the GP has missed it.”
To find out more, please visit www.cmt.org.uk or donate on the charity’s page.
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