And now that our son Jack has been diagnosed with Duchenne muscular dystrophy, our family is more important than ever.
But family can’t help with everything. In October 2013, when we found out Jack had Duchenne, we knew we couldn’t manage on our own. We needed expert advice: the kind of help our parents and siblings couldn’t provide.
That’s where Muscular Dystrophy UK has really made a massive difference to us. Their support has been such a gift – I honestly don’t know how we would have coped without it.
Back when Jack was a toddler we noticed he was a bit of a slow developer, but our health professional reassured us he was OK. When his nursery also expressed concern about his development though, we took him to a doctor who suspected he may have muscular dystrophy. After eight agonising weeks of uncertainty, a blood test confirmed it: Jack had Duchenne.
I’ll never forget that helplessness I felt in the weeks that followed. As a mum, you want to feel confident, to know you’re doing what’s best for your child, so when we got this diagnosis of a devastating condition I had never heard of, I had no idea where to turn.
It was my brother who first connected us with Muscular Dystrophy UK. He too was having a hard time coming to terms with Jack’s diagnosis and so he spoke to Sarah, one of the charity’s advocacy ambassadors, whose son also has Duchenne. She helped my brother – and then us – to understand what Duchenne was. What it meant for our Jack, that he would need to use a wheelchair. How to face the fact that his life was going to be far more difficult – and shorter – than it might have been.
If you could send a gift today, you could help other people faced with such a diagnosis get the information and help they so desperately need.
The charity has even had someone by our side in our discussions with the council about adapting our home for Jack. We knew Muscular Dystrophy UK had loads of experience of what’s needed to make homes accessible, so when the time came to think about our own house, we called the helpline. Ever since, they’ve been right there with my family, acting as our advocates at every stage, making sure we get the support we need.
This level of personal, practical support has been amazing for us – and you could make it possible for other families, with a gift this Christmas.
Of course, research is going to be the key to beating muscle-wasting conditions. My family is following the latest developments very closely and trying to get involved wherever possible. We’ve just learned that Jack has been accepted on to a clinical trial that is testing an exon skipping drug.
It’s early days, obviously, but research has already led to some major breakthroughs and promising treatments. If there’s a chance we could help doctors develop a treatment for Jack and for children like him, then we simply have to be part of it.
Your generosity this Christmas could help Muscular Dystrophy UK fund more research to help children like Jack. You could help research teams develop treatments for these devastating conditions.
Ever since Jack was diagnosed with Duchenne, it has made all the difference in the world to me and my family to have Muscular Dystrophy UK with us, every step of the way.
This Christmas, please spare a thought for all the families who are facing the same worry and confusion after a muscle-wasting condition diagnosis – take a moment to give them something truly life-changing: the gift of support.
Emma Gauder, Jack’s mum