When William was diagnosed, the consultant, social worker and nurse sat in silence, their faces serious, watching our reactions. I had read about Duchenne muscular dystrophy (DMD), but nothing prepared me for the reality—it was a life sentence. The social worker mentioned future support from the Muscular Dystrophy Society of Ireland (MDI), but the nurse could only answer questions after consulting the doctor, offering little help. There were no words of reassurance, no hope — just the devastating truth.
Here in Ireland, no suitable treatment exists for William due to his exon 62 duplication, a rare variant of the disease. We arrived home with nothing — no guidance, no reassurance, just three phone numbers. What now? Should we call? Would they reach out, offer support, schedule a family meeting? Would they explain what to expect, what to avoid or how to care for him? Could they advise on diet, the best supplements or suitable exercises?
We waited. But nothing came.
The numbers weren’t for them to call us — they were for us to call them. No follow-up, no encouragement, no plan. Just silence.
For two weeks, I lived in unbearable fear and anxiety, desperately trying to understand what to do next. Should I seek help elsewhere? Was I already failing William? Every night, I lay awake, exhausted but unable to rest, trapped in an endless loop of questions with no answers. And still, the phone never rang.
This is the reality of receiving a life-altering diagnosis—being left alone with the weight of it all. No guidance, no direction, just overwhelming fear and uncertainty. I quickly realized that if I wanted answers, I had to search for them myself. If I wanted hope, I had to fight for it. And so, despite the heartbreak, I started looking beyond Ireland, beyond the system that had abandoned us, determined to find a chance for William.
Because he deserves more than silence.
The need for better support and hope for families
After the longest two weeks of my life, I made the call. I reached out, hoping for guidance, support — something to hold onto. Instead, I was told to register with MDI. Shortly after, I received an email filled with general information, but nothing practical or specific to William’s rare exon 62 duplication.
Families facing rare conditions need more than just a registration process. We need clear guidance, follow-up, and a structured plan. The lack of communication after a devastating diagnosis leaves families lost, overwhelmed, and unsure of where to turn. It has been six months since William’s diagnosis, yet no follow-up calls, no offers of support and no tailored advice have come our way.
More than anything, families need hope. When we receive this life-changing news, we don’t just need serious faces and understanding words — we need to hear that there is something we can do. Even small pieces of encouragement, guidance on the next steps or stories of others who have walked this path can bring comfort and strength.
Additionally, the information provided must be easy to process. Emails filled with endless links to click through are overwhelming. After receiving devastating news, the brain struggles to function clearly. Families need direct, simple, and clear guidance without having to navigate complex documents or multiple websites.
Health providers and organizations like MDI must do more. Every child with a rare condition deserves the best chance at life. Every family deserves support, not silence. And most importantly, they deserve a little hope.
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