Building a Rare Community: How One Family Coped with a Diagnosis of Duchenne Muscular Dystrophy

When you’re told your child has Duchenne Muscular Dystrophy—a fatal disease with no known cure—your world turns upside down. Read Nicola's story.

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Like many young couples looking to build a future together and a start a family, my husband Ed and I were hardworking professionals who bought a home in Toronto, got a dog.  We officially started our family with the birth of our first child, Owen, a big, beautiful baby boy who was born in 2007. Just like all first-time parents, we did all the ‘right’ things to make sure he had the best of everything we could provide. Two-and-a-half years later, we welcomed a beautiful baby girl, Emma.  Owen was ecstatic to be a big brother and we felt so blessed. 

We knew something wasn’t right, when Owen was four.  Unlike other kids his age, he would tire easily during soccer games.  We thought this might be because he was twice as big as all the other boys.  He was just uncoordinated, but there were other signs that something might be wrong.

At Owen’s annual doctor’s appointment, I pointed out his rather large calves and our doctor felt a second opinion from a pediatrician wouldn’t hurt.

Six months later we saw a pediatrician who looked concerned when he examined Owen.  The pediatrician said Owen had weakness in his shoulders and he was going to run some tests.  He wanted to rule out the possibility of him having some type of muscular dystrophy. Owen’s creatine kinase count was very high, which was bad news, but we still didn’t know for sure what he had.

So we did the one thing everyone tells you not to do – we searched online. Dealing with the unknown was simply torture and we could not resist.  After doing some investigation of our own we were left with a sick feeling, that this could not be possible.  Maybe he has Becker’s muscular dystrophy (which is much less progressive).  Maybe it’s something else.  It can’t possibly be Duchenne muscular dystrophy.  When we finally got the genetic testing results that confirmed he had Duchenne muscular dystrophy, a progressive, fatal, muscle wasting disease, we were in shock.

When you’re told your child has a fatal disease with no known cure, your world turns upside down.  You can’t imagine the intense pain it brings, knowing you son will live a short life because of a genetic mutation.  So many sleepless nights, pain and tears.  It slowly starts to sink in, but each day is filled with heartache, pain, guilt, hopelessness and sometimes even denial. Every waking hour feels like someone is sitting on your chest and you can barely breathe. That feeling never really goes away. It just comes less frequently with time.

Telling our family and friends was the next step and this was equally devastating given that we were still dealing with our new reality.  I can’t tell you how difficult it was to hear my Mum and Dad crying when we told them the news.  It’s simply one of the hardest things we have ever had to do.  Telling our friends was also very difficult, each one having their own way of reacting to the news. Each time was like another knife piercing through our hearts. All the while we were trying our best to protect and shield Owen from the hard times to come. We mourned the life we thought we could have, as we adjusted to the new reality we were facing.

Specialized Care and Treatment

We were referred to a specialist who luckily was nearby. The doctors and staff were fantastic, but hearing some of the hard facts about the condition we were still trying to comprehend was tough.

Is this really happening?  Now what?  Are there any drugs that can help him?

The short answer was no, but steroids can help delay the progression. However, they come with a price. Our boy won’t grow, he will gain weight, he will develop a rounded facial appearance, his bones will become weaker, he could develop cataracts over time, he will be very moody and if he misses more than a day’s dose, his body would start to experience withdrawal symptoms that could be life threatening.

We became obsessed with looking online for news of a cure and clinical trials or any treatments that might provide some hope for Owen’s future.  We found some drugs under development, but we had so many questions.  How do we enroll?  Is there a resource to help with this?  We found some information, but also lots of frustration.

There were some ongoing trials underway in the United States that looked promising. Owen met the inclusion criteria for the trial, but there were no sites in Canada. We investigated further, made some calls and after some hard work, managed to get him into a trial in upstate New York.  After hearing that he was accepted into the trial, we broke down with tears of joy and hope.  

At least we felt like we were doing something that could help him.  We’ve been in that trial for over a year now.

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Schools and Home

After Owen’s diagnosis, we needed to figure out next steps not only for schools, but for our living arrangements and the future.  We needed to find a school that was able to accommodate Owen’s accessibility needs moving forward, but this was a challenge. There wasn’t an easy way to find out which schools in the area were accessible and contacting someone to get details was difficult.  We were disappointed at the lack of resources available to us and the amount of work we had to do to find the information we needed put an unnecessary burden on our already fragile state.

Finally, after many phone calls and frustration, we were accepted into a school with an elevator, but this required another big change for Owen – new school, new friends and a long drive or bus ride every day to get there.

Finding daycare in the city is hard enough, but finding one that is accessible is even harder. We had to write letters and arrange meetings with teachers and caregivers explaining his needs. It is still very difficult to convince his caregivers that he needs to rest often and take an elevator and at the same time help him feel included of regular activities. It’s a delicate balance.

Recently, we were faced with finding a house that would accommodate Owen’s growing needs. Almost two years later, we found a house in a nearby neighbourhood. It needed to be modified significantly, so we embarked on a huge home renovation.

These feats are only the beginning of our story. Life is only going to become more complex for Owen as time passes, and time is not a luxury that he and other boys with DMD have.

Many families have, and continue to endure, far worse challenges than we have and may not have access to the same support or resources that we have been so fortunate to have. Even then, we wish we had a place to turn to, a place that could have helped guide us when Owen was diagnosed. 

We needed practical things like a list of accessible schools, a checklist of what to look for in a home, guidance on how to explain our son’s disease to his caregivers and how to deal with the emotional mountain that we climb every day.  Most importantly, we need to find a cure for all of our sons with Duchenne, so that they can live the life that every kid deserves and grow up to be the adults we all wish and dream for them to become.

Uniting Our Voice

This brings us to the birth of Stand for Duchenne Canada. As we searched for resources specific to Duchenne, we continually found websites and communities in the United States and Europe.

There are many different types of muscular dystrophy, but Duchenne is the most progressive and fatal, affecting boys at a very young age. These boys typically are wheelchair bound by age 13 and have a life expectancy into their early 20s. Given this, we wondered why was there no national presence, or voice for these boys in Canada?

With the advancements in gene therapy over the last few years, there is new hope for treatments and potential cures for these boys. Who is ensuring our Canadian boys have access to these clinical trials and potential treatments?

This was a void that we simply had to fill. With the support of our friends and family willing to dedicate their free time, we founded Stand for Duchenne Canada in early 2016. We have only just begun to build our organization and its resources, but we know that uniting the Duchenne community across Canada is the first and most important step.

Stand for Duchenne Canada is a not-for-profit (non-charitable) organization born out of the need we have experienced as parents of a child living with DMD for a group dedicated to supporting families like ours. Our mission is to unite Canadian families living with DMD to strengthen their lives through advocacy and support. Our goal is to create awareness about the disease, develop a national network of families and children affected by DMD, and together as one voice, ensure our boys have access to the best care and resources for a long enriched life.

If your family has been affected by Duchenne, we would love to hear from you.  Please join our community by visiting www.duchennecanada.org or emailing us directly at info@duchennecanada.org.

Nicola and Ed Worsfold recently launched a new not-for-profit, non-charitable organization for Canadians whose lives have been touched by Duchenne muscular dystrophy. Stand for Duchenne Canada’s mission is to unite families living with Duchenne to strengthen their lives through advocacy and support.
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