MEGAN’S STORY

My name is Megan, I’m 36 years old and live in Southampton. I am married to Joe and have two daughters, Isla and Edith. I am a keen runner and baker. As a family we love getting away in our campervan and exploring the UK and Europe. My daughter Isla was diagnosed with Charcot-Marie-Tooth (CMT) disease in October 2019. After genetic testing, it was confirmed that she has CMT type 1A.

CHARCOT-MARIE-TOOTH DISEASE

Although I had concerns about Isla’s gross motor skills since she started walking, I didn’t go back to the GP with my worries until she started school and I noticed that she was continuing to struggle with her balance, resulting in falls when walking. I am very thankful to the community paediatric team at the hospital for recognising that something wasn’t right and referring us to the specialists who could help. Receiving the diagnosis in 2019 was a relief, but also opened up a huge number of questions and learning about a disease we had never heard of. We also had to navigate the treatments and referrals Isla needed, which were made more challenging by the Covid-19 pandemic and required a lot of patience.

CMT is a muscle wasting condition impacting the peripheral nerves and impacts the muscles in Isla’s hands and feet. For Isla it has resulted in foot drop, tighter muscles and muscle wasting, which mean that walks to the park or local shops can end with a fall and tears. It has also impacted her hand strength and handwriting. As a family it restricts how far we can walk together, as Isla gets tired more quickly and her legs ache, but overall Isla doesn’t let her CMT impact on her life and loves to try everything and keep up with her friends.

CHALLENGES AND POSITIVES

After adjusting to the diagnosis and explaining the condition to friends and family who had never heard of it, the biggest challenge has been adjusting to wearing ankle-foot orthosis (AFOs) outside and particular at school. Isla has loved being able to choose the colour of her AFOs and they have made a big difference in reducing her foot drop and supporting her ankles, but returning to school after lockdown in September meant a huge adjustment for her and resulted in lots of well-meaning questions from friends. Another challenge was finding footwear to fit them, particularly footwear for the colder, wetter months. Previously a pair of wellington boots would have solved this, but trust me they don’t fit well over AFOs – I tried and did wonder if we would ever get them off again!

I am very proud of Isla’s cycling and swimming. She loves both and we have encouraged her to cycle and swim regularly, not just due to the benefits for her physical health, but also because of the freedom it provides her to explore longer distances.

RARE DISEASE DAY AND SUPPORT

Last year was the first time I had heard about Rare Disease Day and it gave us the opportunity to share with others some of Isla’s journey and diagnosis. It made us feel connected with others who were living with rare diseases and gave me a greater appreciation of the opportunities and challenges of living with disability.

We are members of CMT UK and have benefited from advice and support packs that have been invaluable in providing information to Isla’s school and GP. We are hoping to be able to meet up with our local Hampshire support group and get involved in the CMT kids activities when Covid-19 restrictions are lifted.

TO LEARN MORE ABOUT PEOPLE LIVING WITH RARE CONDITIONS, WATCH THE UK’S OFFICIAL RARE DISEASE DAY VIDEO. IF YOU WOULD LIKE SHARE YOUR OWN EXPERIENCES, PLEASE EMAIL [email protected].

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