Despite an estimated 25,000 people in the UK having Charcot-Marie-Tooth disease (CMT), Nori Todd did not know anything about the condition when her niece received the life-changing diagnostic.
“When something like this happens in your family, everyone’s in an absolute shock,” says Nori whose niece from Denmark was diagnosed with the condition shortly after she was born.
“We hadn’t heard about it before, so we didn’t know what caused it or how to deal with it.”
CMT, also known as hereditary motor and sensory neuropathy, is a group of inherited conditions that damage the peripheral nerves.
It is a progressive condition, which means the symptoms, such as muscle weakness and numbness, gradually get worse with age.
In some types of CMT, babies and toddlers have weakness and muscle loss. They may hold their head up, sit, crawl, stand, and walk later than most kids do, fall more than kids of the same age and have trouble grasping or holding items.
Charity Charcot-Marie-Tooth UK calls it “the most common rare disease”, as more than 25,000 people in the UK are thought to have it, making it the most common inherited neurological condition.
However, a lack of awareness around CMT disease remains, says Nori.
“No one talks about it. We didn’t know where to start in the beginning, but after we did some research, we found out that almost three million people suffer with the disease worldwide.
“When I tried to reach out to people, however, we didn’t really get much response. It felt like there was this massive barrier when trying to find information and connect with people.”
She and her sister had to look for other sources outside Denmark and the UK. They were lucky to find more resources in the US and Hungary, where Nori says, there is a much bigger community.
“We found someone from Hungary and their daughter who is six also has CMT disease. It is nice to find that connection.
“My niece’s case has definitely determined us to spread awareness, especially here in the UK. You never know when you might come across someone who has a family member or a friend who also has CMT disease, so we try to make more people talk about it.
“It is nice to connect with other people who are going through the same experience and this can help us develop a bigger community.”
Currently, there is no cure for CMT disease, but therapies are available to help reduce symptoms and enable people to live as independently as possible.
Patients need to be assessed regularly to check for any changes in their condition and their treatment programme often involves a number of healthcare professionals working together in a multidisciplinary team.
Nori’s sister found two neuro-rehab centres in her native Hungary, where her niece can have access to the electric therapies, lokomat therapy and hydro massage that she needs to move or stand on her legs.
But she says travelling across Europe and the US can be really hard and costly. She is calling for more support for CMT disease patients.
“We are trying to reach and make as many people as possible aware of this disease because we did not know anything about it.
“We want to make them understand that if they have someone in their family who needs help, they could join our community.
“It’s heart-breaking to see your loved one struggling with a disease no one talks about. But I think if we come together, we can change that.”
