Josie is a fun loving, artistic five-year-old who loves school, swimming, playing with her little brother, and all things pink.
Josie has lived with Ullrich congenital muscular dystrophy (UCMD) since birth, but she doesn't consider her disability a limitation. She’s a bundle of energy and nothing stops her from getting involved in anything and everything.
In fact, if something’s in her way, she becomes even more determined and says, “I'll just do it the Josie way!”.
Josie’s diagnosis journey
Our experience with the condition muscular dystrophy started when Josie was about 18 months old in 2018.
She had reached most of her milestones but her walking hadn't really progressed. Thinking it might be a balance issue, we enrolled her in ballet classes. While she loved it, we noticed that she was still falling and struggling to get up off her feet.
Just before Josie turned two in April 2019, I took her to a paediatric physio, who eventually referred us to the Evelina Children’s Hospital, in London. They did lots of tests, including a muscle biopsy but the results were all inconclusive.
This was when Covid-19 hit so everything took a really long time. Every time we saw someone new, we’d learn a little more but not quite enough. It was hard; at one point, the phrase “Duchenne” was thrown at us (referring to Duchenne muscular dystrophy) and as a parent, you automatically start to panic.
Two years is a long time to wait for a diagnosis, not knowing how it was all going to turn out. Sometimes we’d think, “Maybe it’s going to be OK”, and you cling onto that hope. But you always have that doubt in the back of your mind it’s going to be something terrible.
Getting a diagnosis and connecting with people who “get it”
Although it was really hard to swallow at first, finally having a diagnosis for Josie’s condition really helped.
Before we knew it was muscular dystrophy, as a parent, you think you're going slightly mad and that you're being irrational. I guess you could call it a mother’s or parent’s instinct that you just know something may not be quite right. And without a formal diagnosis, services don't always believe you and you’re extremely limited in what support you can get.
Through the MDUK’s Information, Advocacy and Care team, we were able to talk to people who just ‘get it’; people who understand conditions like Josie’s or have even been through it themselves. They could share their vital experiences with us to help give us some reassurance and help to put our minds at ease.
I was worried about talking to people about Josie’s condition at first, especially other parents. But I found that it really helped. You no longer feel like you’re the only person in the world dealing with the situation you're in.
Sharing your experiences helps you process a situation which is out of your control and normalizes it for you, too.
The value of sharing knowledge within the muscular dystrophy community
Talking about muscular dystrophy helps with sharing knowledge, too.
If we were looking to buy a car seat for Josie, for example, there’s a lot of information to wade through. You can easily get overwhelmed. But if you reach out to your support network, chances are that somebody has already thought about it and has an answer.
Whether it’s other parents, ambassadors, peer support groups, or information hubs; MDUK put us in touch with everyone we needed. It was invaluable. And without it, you can be left relying on ‘Dr Google’; which is obviously not ideal.
Going “off-road” with Josie’s electric wheelchair
Having the right adaptations in place has been an absolute game-changer, too.
MDUK provided lots of adaptation support, including a starter pack about what adaptations we could make to our house.
Josie uses an electric wheelchair when she’s out and about, including at school. We thought we’d have an issue getting an electric wheelchair from the NHS because Josie can still walk at the moment. But thankfully, they allowed it because it would allow Josie to have more independence and it’s likely that she will lose the ability to walk in the future.
Alongside her NHS wheelchair, we also bought Josie an off-road electric wheelchair last year, which has literally changed our lives. We’ve always been a very outdoorsy family and Josie and her 3-year-old brother love being out in nature and exploring new forest trails. When Josie got too big to carry, we had to rethink our activities.
But with her off-roading chair, she can go pretty much anywhere. We even go up on the South Downs together; it’s brilliant to be able to continue to create these special family memories.
Getting support from people around you and MDUK
As a family with a child who’s living with muscular dystrophy, our advice to someone in need of support would be to reach out to MDUK and talk to as many people in the same or similar situation as you.
If the charity hadn’t been there for us, we'd still be in a world of disarray because we’d have no central point of contact to go to.
Because of MDUK’s support, we’ve been able to connect with other families and children living with muscular dystrophy, as well as access information on financial support and Disability Living Allowance. I don't know where we'd be without them.
That’s one of the many reasons that our family decided to establish our own MDUK Family Fund, The Chubb’s Crusade – Understanding Ullrich. Through this fund, we’re raising money for MDUK to help fund their research into Ullrich Congenital muscular dystrophy. A small amount from the fund also goes towards helping Josie and supporting her future welfare needs.
We were really honoured to win ‘Fundraiser of the Year’ at one of MDUK’s President’s Awards earlier this year. Myself, my husband James, Josie, Harry, and our whole family have loved getting more involved with the charity – and we want to keep helping to raise awareness and funds for the whole MDUK cause.
“Where there’s a will, there’s a way!”
Having a good support system is so important because ultimately, we don’t know what’s around the corner.
At the moment, Josie can still walk, but she needs a great deal of help with physical stuff. She needs someone with her pretty much all the time to help assist her and care for her.
But when it comes to Josie and making sure she has everything she needs to live her life as she wants, our family motto is: “Where there’s a will, there’s a way!”.
We understand that a diagnosis of a muscle-wasting condition can change everything, and there are challenges when you live with a progressive condition. Having access to the right information and advice can make all the difference.
Our Information, Advocacy and Care Team are here to support you. Call our free helpline on 0800 652 6352 (open 10am - 2pm, Monday to Friday) or email email@example.com.
You can also support families like the Chubbs in raising vital funds for research into muscle wasting conditions through MDUK’s Family Funds. Help MDUK ensure that we can be there for everyone affected today, tomorrow and beyond.