When Amelie was diagnosed with Ullrich congenital muscular dystrophy at the age of four, her family faced an uncertain future. Now 13, she’s thriving at school, competing in powerchair football and embracing every opportunity that comes her way. For Ullrich Awareness Day, Amelie’s mum shares how the right diagnosis, specialist support and a determination to focus on what Amelie can do have shaped their journey.
“We've always encouraged Amelie to focus on what she can do, despite having Ullrich.”
When Amelie was four, we were told she had a muscle wasting condition, but it wasn’t until we moved from London to Newcastle almost 10 years ago that we received the correct diagnosis of Ullrich congenital muscular dystrophy.
Looking back, moving to Newcastle was one of the best things we could have done. The specialist neuromuscular team there had the expertise to give us answers and the right support from the start.
One of the first things we were given was a Muscular Dystrophy UK leaflet. At a time when everything felt overwhelming, it reminded us that we weren’t alone. Through the charity, we connected with other families living with Ullrich.
“That emotional support meant so much in those early days and has continued to be a great source of comfort years later.”
Growing Amelie’s independence
As Amelie’s grown, her needs have changed too. She’s always needed a wheelchair, but as her muscles have become weaker, she’s needed more equipment and support. When Amelie was nine, we made the decision to start having carers to support her sometimes. Finding the right carers wasn’t easy, but we now have three carers who help Amelie with day-to-day tasks, and they’ve made such a positive difference to her life. I think having that support while she’s growing up has helped her become more independent. She’s learning how to direct her own care and communicate what she needs, which will hopefully make that transition into adulthood easier.
We were recently able to purchase an Innowalk after a great deal of fundraising. This is a state-of-the-art standing machine that simulates walking movements and has massively improved her sleep and circulation. She uses it five or six times a week as part of her physiotherapy, and it really has been life changing.
Thriving at school
Like any parent, we worried about how Amelie would cope at secondary school, but she’s excelled. She attends Royal Grammar School and is the only pupil who uses a wheelchair. Thankfully, it’s a modern, accessible building, and she’s thriving both academically and socially.
Amelie throws herself into school life (like everything else). She loves drama, enjoys singing and takes part in after-school clubs. Singing is something she’s passionate about, but it also helps support her lung function. The school has also been brilliant at making sport inclusive. Hockey and netball are adapted so she can join in with her classmates, and she also enjoys swimming.
Experiencing everything life has to offer
One of the biggest highlights over the last two years has been Amelie joining Newcastle United’s powerchair football team. She’s currently the only girl in the squad, and last year she was selected to compete at the national championships.
“Watching her confidence grow has been incredible. Powerchair football has given her friendships, independence and the chance to compete at a high level.”
We’ve always encouraged Amelie to stay active, try new things and grab every experience she can. Over the years, we’ve climbed hills, snorkelled with sharks and manta rays, and supported her to enter dance competitions. She’s also taken part in two disability triathlons and loves skiing and waterskiing.
Now that she’s a teenager and finding her own path, she enjoys aqua classes and swimming, both of which have become an important part of her physio. It’s never been about focusing on what Amelie can’t do; it’s about making sure she has every opportunity to enjoy life and discover what she’s capable of.
Why awareness matters
Amelie is bright, adventurous and resilient. She faces challenges every day, but she’s determined to make the most of every opportunity, whether that’s on the football pitch, at school or spending time with family and friends.
As a family, we’ve also tried to give something back. I’ve climbed Mount Kilimanjaro and jumped out of a plane to raise money for Muscular Dystrophy UK, and Amelie’s carers and our friends have taken on challenges including the Great North Run and the London Marathon.
I’m incredibly grateful for the support we’ve received over the years. From introducing us to other families after Amelie’s diagnosis to helping fund equipment that has transformed her independence, Muscular Dystrophy UK has been there throughout our journey and will continue to be, I’m sure.
