Family blighted by hereditary disorder
Mum thought she was just clumsy until diagnosis
A Blantyre woman has spoken of her experiences of neurological disorder Charcot-marie-tooth during CMT Awareness Month.
The genetic condition can cause uncontrollable pain, chronic fatigue, and deformities in the hands, lower legs and feet, leading to balance problems and falls.
CMT Awareness Month was launched by charity Charcot-marie-tooth UK on Saturday (September 1).
Samantha Muir (49) wasn’t diagnosed with the condition until the age of 29, despite experiencing symptoms throughout childhood.
She said: “CMT runs in my family – my father has it, my brother does, and my sons Rhys (21) and Regan (18).
“When my father was young he was told he had a club foot and it wasn’t until he was well into his 40s, and had various tests because he was unwell, that his bloods revealed he had Hereditary Motor Sensory Neuropathy and was advised that my brother and I should get tested too.
“At school, I was always tripping and falling due to the fact I have high arches and muscle wastage in my legs. PE lessons were difficult as I couldn’t run far or fast and I was always in hospital with sprained ankles, but we just thought I was clumsy.
“It wasn’t until I was 29 and kept falling over when I was pushing the pram of my oldest son that I got tested, and a neurologist confirmed I had CMT.”
Around 23,000 people in the UK have Charcot-marie-tooth, which is named after the three scientists who discovered it.
Steadily progressive, it causes muscle weakness and wasting in the lower legs and feet, leading to problems like hammer toes, restricted mobility, and uncontrollable pain.
The hands and fingers are also affected, making tasks needing fine motor skills, such as fastening shoe laces and buttons, very difficult.
Although CMT is not life-threatening, for many, it will impact on and significantly reduce the quality of their lives, with some people even ending up as wheelchair users.
Samantha says she was relieved to receive a diagnosis.
She continued: “Everyone kept asking how I felt, but to be honest, it felt no different. I had been clumsy all my life but now I had a reason why I was and a name for it – and I could now get the support I needed.
“I already had children by the time I was tested and it has been confirmed they both have CMT, but they are getting on with their lives and are thriving.
“With Rhys, his CMT presents mainly in his feet, and with Regan it is more so in his spine and he has scoliosis.
“As I get older, the symptoms of my CMT are getting worse. I’ve had to cut down my hours at work as the pain in my legs is unbelievable and I’m attending a pain management clinic to help with this.
“I have also been given new splints to help me walk.
“Despite all this though, we just do our best to live our lives the best we can.”
This year’s CMT campaign aims to raise awareness of the symptoms among people who have the condition, but have not yet been diagnosed; make more medical professionals aware of the condition; let people who have CMT know that the charity exists; and to raise funds to help Charcot-marie-tooth UK members and pay for vital research into the condition.
For more information, visit www.cmt.org.uk or contact 0300 323 6316.