Lucy Brady, whose daughter Ella, six, has Charcot-Marie-Tooth disease, says that raising awareness of the condition makes life easier for herself and her family.
She said: “Ella calls her condition her ‘cheeky feet’, which gives people a starting point to ask questions. Because Charcot-Marie-Tooth doesn’t sound like it’s related to limbs, people sometimes get confused. They think, ‘What’s wrong with her teeth?’
The best way to describe it is to say that her nerves don’t work the way that they should, so the signals her brain is trying to send to her feet don’t get there. Because these signals aren’t getting through, she’s getting muscle loss because they aren’t being used properly.
“The diagnosis was a massive shock for us initially and we felt a lot of disbelief, but you just have to get on with it. We’ve always tried to tell her that if there’s something she wants to do, she should do it. We encourage her to cycle and use a scooter, and we go on day trips to lots of different places.
“You get drawn into lots of appointments and treatment plans. You adapt, but life has changed a lot for us. We’ve had about eight different appointments in the last month. Luckily I’m self-employed, which makes it easier, but it does have quite an impact on your life.
“A lot of people are interested in Ella, but because she wears splints you tend to get people staring and not asking questions. She’s oblivious, but as her mum I notice it. It would be nice if people weren’t afraid to ask, ‘Why does your daughter have things on her legs?’
Children are the best at addressing it, because they do ask questions and then you can explain.
“We live in a small town in Cambridgeshire, and quite a lot of people know Ella. Once I’ve explained muscular dystrophy to them, quite a few people have said, ‘Oh, I think that someone in my family must have had that.’
“By talking and knowing about CMT, people can understand Ella better, and that helps us as well.
“She had surgery in February on both of her feet to bring them into a better position. She’s a really busy girl so she doesn’t like being stuck in a wheelchair. We’re six months on so she’s done really well. She’s wearing ankle foot orthosis all day and she’s even got a little bit of control in the muscle of her left foot which she hasn’t had at all for about three years. We’re expecting an 18-month time frame to see if it has corrected more than just the foot position.
“We seem to have got the feet straight, but now she’s suffering in her hands. We had hoped that we’d have a lot more time before that happened, but her fingers are curving and she’s losing a lot of strength and wearing hand splints at night. But she doesn’t let it get to her – she just gets on with things.”