When Laura’s daughter, Maisie, started walking differently, they never expected to end up with a diagnosis of LMNA-related muscular dystrophy. She shares what their diagnosis journey has been like, how it feels having an extremely rare form of muscular dystrophy, and why they’re determined to raise awareness and money for LMNA.
Our Amazing Maisie’s story: from first symptoms to fundraising for LMNA research
When my daughter Maisie was a baby, there were no signs that anything was wrong. She was thriving and hitting every milestone. She was always full of energy and even walked before her first birthday.
It wasn’t until just before she turned two that we noticed slight changes. She started getting up from the floor differently, swinging her hips to the side in a way she hadn’t before. Then we noticed she was walking on the outside edges of her feet. We told ourselves it might just be a phase.
Getting Maisie’s diagnosis was only the beginning
When it didn’t improve, we went to the GP who referred us from one specialist to another. At that stage, we had no idea what it would lead to.
While we waited for appointments, we asked a friend who’s a physiotherapist what it could be. She tried to reassure us that it was probably nothing, but her suggestion of “dystrophies” amongst other conditions, stuck in my head. I found myself going down the rabbit hole of Google. As I read more, I started to notice things I hadn’t fully realised before. Questions that I hadn’t thought of before: could she climb stairs without help? Could she jump with both feet off the ground? The answers were no.
By the time we saw the specialist, I think deep down I already knew. Hearing that they suspected muscular dystrophy was devastating; I’d never even heard of muscular dystrophy until a couple of months ago, now I was being told my beautiful wee girl had this condition.
What followed was months of tests, referrals and waiting. Eventually, genetic testing gave us an answer: Maisie has a rare LMNA-related muscular dystrophy. Because it’s so rare, it doesn’t fit neatly into the congenital form or the later onset version, Emery Dreyfus.
Living with the unknown is worrying – but also hopeful
We’ve been told she her progression will sit somewhere inbetween the two, which means there are still many unknowns about what the future might look like for her. That uncertainty is hard to sit with, but it also gives us hope that she could progress slowly.
Right now, Maisie is doing incredibly well. She’s four years old, at preschool, and absolutely thriving. She’s fiercely independent, so stubborn and determined in the best possible way, and she doesn’t give up easily. She works so hard at her physio, and it’s made a real difference to her strength, balance and stamina.
There are things she finds challenging, like stairs or walking longer distances, but we just adapt where we need to. She has a trike that she uses for longer walks, but she still gets out and about, doing everything she can alongside everyone else.
When everything felt overwhelming in those early days, I was searching for anything that could give me a bit of hope. That’s when I came across Muscular Dystrophy UK. Reading other families’ stories made me feel less alone and helped me see that there is life beyond a diagnosis.
We’ve since connected with other families, including those affected by LMNA-related conditions. Because it’s so rare, there aren’t many of us, and that can feel isolating at times. That’s why it’s even more important that we come together and do something for our children.
Setting up a Family Fund gives us a purpose
Setting up a Family Fund with Muscular Dystrophy UK felt like a positive step forward. When so much feels out of your control, having something to focus on makes a huge difference.
I’ve been involved in charity work for a while, so fundraising is something I know and feel confident doing. While I wish we didn’t have a reason to be doing this, it gives me a sense of purpose and a way to turn something incredibly difficult into something hopeful.
We want to be able to say we did everything we could
For us, this is about raising awareness and supporting research into LMNA muscular dystrophy. It can sometimes feel like the rarer conditions aren’t supported as much, but every bit of funding and awareness can help move things forward. Our biggest hope is that one day there’ll be treatments for Maisie’s condition.
One day, when she’s older, I want to be able to say to her that we did everything we could. We used our voices, raised awareness and tried to make a difference, not just for you, but for other families too.
Visit Amazing Maisie’s Mission and find out more about their fundraising journey.
