In early 2024, Stephanie Cooper was diagnosed with Charcot-Marie-Tooth disease (CMT). Determined to prove to herself, and others, that she can take on a challenge despite her condition, Stephanie has signed up to take part in the 2025 Great North Run. Stephanie explains why she wants to increase awareness and raise money to help fund research into her condition.
Running a half marathon with a hidden disability
I knew from a young age that something wasn’t right, but it took two decades to get a formal diagnosis of Charcot-Marie-Tooth disease (CMT).
Around the age of eight, I remember experiencing pains flowing up and down my legs that I couldn’t easily describe to doctors. They put it down to growing pains but, as I got older, things only got worse.
“I used to love PE at school but found myself becoming slower than everyone else and more cautious with my steps.”
My ankles would twist easily, and I felt unstable on my feet, making running almost impossible.
In my late teens and early twenties, the symptoms became more severe. I found I couldn’t keep up with my peers and experienced debilitating pain on a weekly basis. My steps were off balance, my feet were beginning to deform, and I seemed to be constantly in and out of A&E for one reason or another. I can’t remember how many different tests, scans and examinations I had, but every result was always clear.
For 15 years, I was passed from one specialist to another – diagnosed with something and treated for it, only for my symptoms to stay the same or get worse. I was even told that I was imagining it at one point and that I was just suffering from grief after losing my dad. I knew this wasn’t the case and when I was at the stage of almost giving up and accepting that I’d never get a diagnosis, a neurologist saw something that no one else had and sent me for whole genome sequencing.
A blood test that looked at my genes and DNA led to the diagnosis I’d been waiting so many years for. Two months after the test, in early 2024, I received a letter telling me that I have a gene mutation of the GJB1 gene, which is linked to Charcot-Marie-Tooth disease (CMT).
“I sat on the floor and cried. I had no idea what CMT was, or what it meant, but I was so relieved to have a definitive diagnosis.”
Now I know more about my condition and how it will cause my muscles to get weaker over time, I want to increase awareness and raise funds for research.
Having a disability can pull you into a very dark place and it can be easier to succumb to the isolation of it all. I have good and bad days and am still on my diagnosis journey but am fortunate enough to still be relatively active and live a normal life. Which is why I decided to take on the challenge of the Great North Run.
Since receiving the letter about my diagnosis, I have been opened up to a world that so few people know about. Having a muscle wasting condition is life-changing and scary, and research is needed to improve understanding and find new treatments. By running with Team MDUK, I’m doing my bit to help fund research into CMT and show support for others living with a muscle wasting condition.
Support Stephanie's fundraising
By supporting Stephanie’s efforts, you’ll be contributing to crucial research for individuals living with Charcot-Marie-Tooth disease.
Inspired by Stephanie's story?
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