Charcot-Marie-Tooth Disease

When I was diagnosed with Charcot-Marie-Tooth disease (CMT), it was a long and winding road. Despite its name, CMT has nothing to do with sharks, teeth, or even sharks' teeth - it's actually named after the three doctors who first described it.

My journey began when my dad noticed I ran a bit differently - picture Phoebe from Friends on one of her infamous Central Park jogs!

Little did we know, this quirky run was a sign of something more significant. CMT is a neurological disorder affecting the peripheral nerves, and my unusual gait was just one of its early symptoms.

The Diagnosis Journey: Then and Now

Nine years of tests, countless blood samples, and numerous doctor visits finally led to my CMT diagnosis. Interestingly, my mother's diagnosis came after mine, years after she had a knee replacement at just 18 due to constant dislocations. Looking back, these were likely early signs of CMT that went unrecognised. Today, I'm relieved to say that getting a CMT diagnosis has become easier. Organisations like CMTUK provide invaluable resources that help patients and families understand what CMT means for them.

Understanding CMT: Key Facts from CMT UK

A4-Simple-Guide.pdf ( cmt.org.uk )

The above linked guide offer concise information about this condition, and it is perfect to share with teachers at my daughters school

1. CMT affects about 23,000 people in the UK, or 1 in 2,500.
2. It's a hereditary condition caused by faulty genes that affect the peripheral nerves.
3. Symptoms typically appear between ages 5 and 15 but can start at any time.
4. Common signs include muscle weakness in feet, lower legs, hands, and forearms.
5. While there's no cure yet, various treatments can help manage symptoms. Although this differs by person, by day, sometimes even by hour.

Living with CMT: It's More Than Just a Diagnosis

For me and my family, understanding CMT has been crucial in managing our day-to-day lives. It's not just about the physical symptoms; it's about adapting, finding the right support, and maintaining a positive outlook.

The information provided by CMT UK has been a game-changer. It's helped us understand everything from genetic inheritance patterns to practical tips for daily living. For instance, did you know that regular stretching and moderate exercise can help maintain muscle strength and flexibility?

Looking Ahead: Hope and Progress

While living with CMT presents challenges, I'm encouraged by the progress in diagnosis and management. Research continues, and organizations like CMT UK are working tirelessly to improve the lives of those affected by this condition.

To anyone recently diagnosed or suspecting they might have #CMT, know that you're not alone. Resources are available, and with the right support, living a full life with CMT is absolutely possible.

Remember, whether you run like Phoebe or not, your journey is unique. Embrace it, seek support, and keep moving forward!