Charity says doctors need to be more aware of rare genetic disorder

Patients with a rare disease which affects thousands of people across the UK have called for better awareness among health workers after many waited decades to be diagnosed.

Patients with a rare disease which affects thousands of people across the UK have called for better awareness among health workers after many waited decades to be diagnosed. Picture: Anthony Devlin/PA Wire

Charcot-Marie-Tooth (CMT), which can cause pain, chronic fatigue and deformities in the hands, lower legs and feet, leading to balance problems and falls, is thought to affect around 23,000 people across the UK. But the charity ­Charcot-Marie-Tooth UK said the genetic, neurological disorder is not well-known in medical circles.

Valerie Bradley was only diagnosed with the disorder when she was 78 years old, despite showing symptoms her whole life.

Ms Bradley, from Stourport on Severn, Worcestershire, started showing signs of the condition as soon as she began walking as a toddler. As a child she had weak ankles and was always tripping and falling over, but her parents were simply advised by their GP to put her in buckskin boots to “straighten her ankles out”.

During her life, she has been diagnosed with a horde of different ailments until she finally received a diagnosis of CMT.

Ms Bradley, now 79, said: “Over the years, due to pain in my feet, ankles, knees and hips, I’ve been diagnosed with osteoarthritis, osteoporosis, pseudo gout, scoliosis and a trapped vertebra, but never CMT, although I have always had the classic symptoms.

“It wasn’t until the end of 2016, when I went to see my GP again as I had constant fatigue, pain and numbness in my legs, and I was finding it increasingly difficult to grip with my hands, that I was referred to a neurologist and neurosurgeon.

“After reading my notes, testing my reflexes and giving me a full body and brain scan, it was the neurologist who eventually diagnosed me with CMT – at 78 years old.

“When I told my GP I had CMT, he hadn’t even heard of it. Awareness must be raised among the medical professions so other people can be diagnosed quicker and get the help and support they need.”

Sue Kelly, 52, from Leeds was diagnosed with CMT in 2010, despite also showing classic symptoms of the condition since early childhood, including as high arches, hammer toes and tripping and falling.

Mrs Kelly said: “It wasn’t until my father died and Charcot-Marie-Tooth was listed as the secondary cause of death on his death certificate that I Googled the name and came across pictures of feet that looked just like mine.”