‘I couldn’t even work 9 hours a week’- Mother who suffers with rare genetic condition wants more awareness of disease

PUBLISHED: 16:03 06 September 2018 | UPDATED: 16:16 06 September 2018

Joanna Gray from South Creake, near Fakenham suffers with a rare genetic condition called CMT. Picture: Alison De Villiers

Joanna Gray from South Creake, near Fakenham suffers with a rare genetic condition called CMT. Picture: Alison De Villiers


When Joanna Gray started becoming unable to put her right foot on the floor at the age of 19, she was left confused as to what could be causing the problem.

Seven years later and Mrs Gray, 49 from South Creake, near Fakenham, finally received a correct diagnosis when she was told she had an extremely rare neurological condition called Charcot-Marie-Tooth (CMT) disease.

CMT causes muscle weakness and wasting, fatigue, difficulty walking and uncontrollable pain and many people who live with it go undiagnosed due to a lack of awareness about the condition.

Mrs Gray said: “I was only diagnosed by the doctor when my mum came in with me and he saw her walk with a gait, then he realised it must be genetic.

“It causes mobility issues. I walk with crutches and if we go far I have to use a wheelchair, it’s so frustrating because you can’t do what you want to do.”

September is CMT awareness month, organised by charity CMT UK which aims to educate people about the condition which is estimated to impact around 23,000 people in the UK.

CMT UK’s chief operating officer Karen Butcher can trace the disease back six generations in her family and said: “There are still too many medical professionals including GPs, physiotherapists, orthotists, surgeons and even neurologists that still don’t know what CMT is.

“Therefore an integral part of this year’s campaign will be to educate them about the condition so they can help make a diagnosis if needed.”

Mrs Gray also said that the condition stopped her from working and worries that her son could also be affected.

She added: “I worked in admin in a dealership for Ford and I tried to work nine hours a week but I couldn’t even do that, I was just so fatigued all the time.

“We haven’t tested my son yet but we will know what it is if he starts experiencing symptoms. I’ve tried different medications but for me none have really worked.

“Nobody really knows much about it. Just to be able to speak to one person who knows what it is would be really nice.”

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