“It took five years for my son to get diagnosed with Ullrich”

Eight-year-old Jaxon was diagnosed with Ullrich congenital muscular dystrophy in April 2023. His mum, Laura, shares their diagnosis journey, how the condition affects Jaxon, and the community the family have found in Muscular Dystrophy UK. 

Share to: Social share link Twitter Social share link Facebook Social share link LinkedIn

Jaxon loves what any eight-year-old boy loves, building Lego and playing Roblox with his friends. He doesn’t let anything stop him, but we started worrying something wasn’t quite right from when he was around 20 months old.

Walking on tip toes was the first sign

We weren’t too concerned at first when Jaxon started walking on his tip toes because lots of children do that. We just thought he’d grow out of it. I took him to see a health visitor about it a few months later and he was referred to the GP.

The GP referred Jaxon to a paediatrician at our local hospital. The paediatrician ordered several tests, including some genetic testing. These all came back normal, so he was referred to an orthopaedic consultant. The consultant told us it was idiopathic toe walking and there was no explanation as to why some children do it.

After his first lot of genetic test results came back, the paediatrician also referred him to a neurologist, but by this time we were in lockdown and all appointments stopped which was very frustrating. When they eventually started up again, Jaxon was sent for an electromyography (EMG) test which came back normal. She also got some more in-depth genetic testing done and we waited nearly two years to receive the results.

The wait felt like an eternity, but when they came back it showed a mutation in his COL6A2 gene – we were finally getting somewhere and getting answers. He then had a muscle MRI and biopsy. Both of these tests confirmed Jaxon had Ullrich congenital muscular dystrophy and he was officially diagnosed in April 2023.

You’re never prepared for a diagnosis like muscular dystrophy

We’d spent so long being told nothing was wrong, we’d started to believe it ourselves. So, to be given this news was shocking and beyond upsetting. Jaxon’s dad and I took him for a McDonald’s after his appointment and we couldn’t help getting emotional. We made sure Jaxon didn’t see this though.

We kept wondering what the future would look like (we still do) and how his condition would progress as he got older. We felt a huge sense of unfairness. Jaxon’s dad and I had genetic testing too and neither of us had the mutation, so Jaxon’s was spontaneous.

Using a wheelchair is hard for Jaxon to accept

Jaxon’s main difficulties are the weakness in his arms and hands. He has hypermobility in his fingers and wrists which makes things like dressing, and anything fiddly, difficult for him.

He struggles going upstairs, so we’re waiting for a stairlift to be fitted at home which will make life so much easier for him.

Finding a community in Muscular Dystrophy UK

We attended a Muscular Dystrophy UK Information Day in Birmingham a couple of years ago which was very informative and it was lovely to speak to other people who just get it.

We’ve met a family through them who are going through the same as us and we meet up regularly. It’s so good to talk to people who truly understand your experiences and what you’re going through as a family.