Leanne and her two daughters, Evie and Martha, have facioscapulohumeral muscular dystrophy (FSHD). On this FSHD awareness day, Leanne shares what it’s like being a parent to children who have the same condition as her, how the severity of their symptoms all differ, and the recent fundraising her teenage daughter Evie has done with her friends.
“My two daughters and I all have FSHD, but we have very different symptoms.”
Although my daughters and I have FSHD, I often think of us as three different boats in the same sea; the condition has progressed very differently for all of us. At 42 years old, I’m still ambulant, whereas Evie and Martha, who are 14 and 10, are both powerchair wheelchair users. I think it’s important to raise awareness of how much FSHD can vary from person to person.
The same diagnosis, very different symptoms
My diagnosis was very different compared to my girls. I had several tests, scans, and even a muscle biopsy, but it was a blood test that ultimately confirmed the diagnosis of FSHD when I was 12. Looking back, I don’t think it truly sunk in for me until my late teens, and even then, I tried my hardest to live my life as though nothing was happening. It’s a strange feeling knowing you’re different but pushing it aside as best as you can.
For Evie and Martha, the diagnosis came much quicker as I knew what to look out for. Evie was diagnosed when she was seven, and Martha when she was just four. We’ve been so fortunate to have the neuromuscular team at the John Radcliffe Hospital on our side. While the girls’ doctors have been amazing, it’s the physio team and our family care advisor who have been particularly helpful and supportive through this whole journey.
Despite us all having the same condition, you might not know it by looking at us.
“Evie and Martha both use powerchairs, and they have quite severe lordosis of the spine. Martha wears ankle splints (AFO), but Evie doesn’t. I, on the other hand, had shoulder surgery to stabilize my shoulders and try to manage the pain.”
Martha’s speech is also affected, and none of us can lift our arms above our heads. It’s been a long, hard journey for all of us, each in our own way.
Dealing with guilt as a mum
I’ve progressed slowly compared to the girls, and I can’t shake the guilt I feel for them. Evie and Martha were diagnosed at such young ages, and they’ve had to deal with so much in such a short time. But I know there’s nothing I can do to change this. What I can do, though, is be there for them and act as their voice in this challenging world we live in.
It’s incredibly hard as a mother, especially when you see your children physically struggling and you just want to step in and help. But there are times when I can’t do that.
“I remember when Martha was little, and she would fall. All I wanted to do was scoop her up and cuddle her, but I couldn’t. My arms were too weak, so I had to rely on someone else to pick her up and put her on my lap. It broke my heart every time.”
For Evie, I’m trying to show her that she can have a job, live a full life, and do as much as she can within her abilities. It’s a delicate balance, but I want her to feel as normal as possible, despite the challenges. I fight for them both, always. And I think because I understand the pain and frustration first-hand, I’m able to advocate for them in ways that others might not fully comprehend. I’ll always have their backs, no matter what.
Evie’s Hotwheels fundraising
“This year, Evie participated in the Bidwell’s Oxford 10k with her school friends as ‘Evie’s Hotwheels.’ I’m so incredibly proud of Evie for putting herself out there, knowing she’d struggle to keep up with the other children.”
People would naturally look, because you don’t see many children with physical disabilities taking part in the children’s race. But Evie did it anyway, and it was amazing.
Her friends have been such a blessing. They don’t treat Evie any differently — they see her for who she is. The wheels are just part of her, and that’s something they’ve never questioned. The last three years, since they met in secondary school, have been a testament to their friendship. The girls stayed by Evie’s side throughout the race, walking with her, supporting her. One of them even jokingly said, “She needs a faster chair for next year!” It was such a heartwarming moment, seeing how much they care.
