My mother told me I had FSHD when I was in my 20s. She said I slept with my eyes partly open which was a “sure sign” that I had FSHD – just like her. But I ignored her. As far as I was concerned, I was perfectly normal. I could lift kids, play tennis, ski, hike and do all the things I wanted to do. But that changed as I got older. I was slowly getting weaker. By the time I was 50, I couldn’t climb ladders anymore. And I couldn’t run without the risk of tripping. So, I had myself tested for FSHD. My mother was right. I do have FSHD – and so do two of my three daughters. That’s when I decided to take FSHD seriously and do something about it.
I started by attending an FSHD conference in Las Vegas in 2010. It was at this conference that I realized that research into a cure for FSHD had reached some exciting milestones, but more heavy lifting was required to finish the job. And, clearly, to get the job done faster, a lot more money was needed. I decided that the best way I could fight FSHD would be to help fund the required research. That’s when the concept of the FSHD Canada Foundation was created. It would be an organization dedicated to making a cure for FSHD happen as soon as possible.
A lot has happened since then. The definitive genetic model for the disease has been discovered. This is critically important since it makes sure that the research is properly targeted. And researchers have now developed several promising therapies that have been successfully tested in the lab on mice. This is still a long way from having a cure for people, but it’s very exciting times in FSHD research.
On a personal level, I consider myself to be very lucky. I am 68 years old and I’m still mobile. But my mother was mobile at my age too, and she was in a wheelchair when she was 75. So, I am “all-in” towards finding a cure. And not just for me. Also, for my brother and my daughters, and all the other people with FSHD. We all want to stop it from getting worse, and hopefully, find a way to get our muscles back too.
I’m an engineer. I love to fix things (and I usually can). But I can’t fix FSHD on my own. It’s going to take a big final push, with the right mix of passion, purpose, and people to make it happen. That is what Solve FSHD is all about and I’m proud to be part of it.