Doctors ‘not aware’ of rare nerve condition Charcot-Marie-Tooth

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A woman with a rare and disabling genetic disorder has told how she waited years for a diagnosis because of a lack of awareness of her condition.

Sue Kelly is among around 23,000 people in the UK thought to be living with Charcot-Marie-Tooth (CMT), which causes pain, chronic fatigue and limb deformities, leading to balance problems and falls.

Warnings have been made that people are missing out on the help they need for their condition because many doctors have never heard of it.

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

She said: “It wasn’t until my father died and CMT 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.

“The information I was reading told me that I needed to see a neurologist, so I visited my GP, who had also never heard of CMT and had to Google it while I was sat in front of her.

“Getting a diagnosis after all these years was a bit of a relief.

“My CMT is gradually getting worse and is starting to affect my hands, but it is still relatively mild compared to some cases.

“My balance is poor and I struggle with steps and stairs.”

The charity CMT UK is raising awareness of the condition during Charcot-Marie-Tooth Awareness Month, which starts today.

Karen Butcher, the charity’s Chief Operating Officer, said too many doctors and physiotherapists did not know what CMT is.

She said “It is also important for us to reach those people who think they might have the condition but haven’t been diagnosed yet. 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.”