When Becky’s son, Toby, was diagnosed with myotonic dystrophy at just three weeks old and they were told the condition was genetic, she knew instantly that she had it too. Becky shares Toby’s journey, how the charity’s peer support system helped her through the difficult diagnosis, and her own symptoms of myotonic dystrophy that she had experienced for many years.
“When my baby was diagnosed with myotonic dystrophy, my own symptoms over the last decade suddenly made sense.”
When our little boy, Toby, was born, he took a while to pink up, had low muscle tone and a weak suck reflex. He was taken to the NICU (Neonatal Intensive Care Unit) and put on non-invasive ventilation. Doctors weren’t sure what was wrong, so they sent off genetic testing.
It took just under three weeks to get the results back. Toby remained in the NICU the whole time. He was still being fed by an NG (nasogastric) tube and wasn’t moving very much, but in other ways he was improving. He’d come off oxygen completely. We were starting to hope we’d be home soon. Then we were sat down and told the genetic testing showed Toby has myotonic dystrophy.
A haze of information
We had never heard of it before. We were told he had congenital myotonic dystrophy which is the most severe form, and there was no knowing if he would ever come off his NG tube, or if he’d walk, talk, understand… it was devastating. The doctor admitted she’d never looked after a baby with the condition before. She wrote “myotonic dystrophy” on a Post-it note because we couldn’t even spell it and told us not to Google the condition.
We were also told it’s genetic, meaning it had to have come from me or my husband, Brad. I knew straight away it was me. I’d had cataract surgery at 24. I was extremely young to need it, and I remember being told how unusual and advanced my cataracts were. My official diagnosis letter arrived a few months later, but deep down I’d already worked it out. The signs had been there for years: myotonia in my hands, fatigue, achy muscles. I thought I was just tired. I thought maybe it was early arthritis. It wasn’t.
Finding support when we needed it most
We weren’t initially signposted to any charities. We left the NICU with a Post-it note and fear. It wasn’t until we were seen at Royal Manchester Children’s Hospital that things began to feel different.
They printed information about the condition from Muscular Dystrophy UK, and that was the first time I came across the charity. The resources were honest but approachable. Informative without being overwhelming. They helped me understand what was happening, not just to Toby, but to me.
I found the peer support service through the website, and speaking to another mum was a turning point. Just knowing she’d been where I was and had come out the other side meant everything. She also signposted me to smaller charities, like Cure Myotonic Dystrophy UK, and other families.
When you first get this diagnosis, you feel completely alone. But there are hundreds of families living with this. That sense of community is the best comfort we’ve found.
Toby has defied everyone’s expectations
Toby is two and a half now, and honestly, he amazes everyone.
He doesn’t stop talking, singing or dancing. At every appointment, professionals comment on how well he’s doing.
He has glasses and a hearing aid. We didn’t know if he’d ever come off the NG tube, but now he doesn’t stop eating. On his neurology report it literally says, “Loves eating.” He has intensive physio, a standing frame and a little scooter to help him get around. He can’t walk or stand independently, but he bum shuffles everywhere. Before that, he rolled to get around for nine months straight. That’s when we realised nothing would stop him finding his own way.
We are so incredibly proud of him. But it is hard. There are constant appointments, therapies and equipment. There is heartache that people don’t always see. We celebrate the wins loudly, but behind them is a lot of work, resilience and determination.
Now I’m raising awareness to ensure other parents’ own symptoms are taken seriously
I do carry anger about my own diagnosis. I wonder, if my myotonic dystrophy was diagnosed sooner, would we have made different decisions? There are other routes to having children, like IVF. I wouldn’t change Toby for the world, but I wouldn’t wish this condition on him.
As a young woman, it was hard to be heard. Without a diagnosis, symptoms are often brushed off. Now I am listened to and taken seriously. That’s why I’m passionate about raising awareness. I’d always recommend asking your health professional to investigate further if you have severe cataracts as a young person.
An unexpected path
This isn’t the path we imagined when we were expecting our first baby. But it is ours. We’ve found great comfort in raising awareness and fundraising and this is why we worked so hard to set up our Together for Toby campaign in conjunction with Cure Myotonic Dystrophy UK. Team Toby has allowed us to focus on raising awareness of myotonic dystrophy within our local and wider community and our friends and family have been amazing at fundraising and setting up events. We have had sky dives, bake sales, half-marathons and lots more. We are so grateful for the community surrounding Team Toby and are so proud to know the difference we are making every day.
