Stories

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.

I am one of the lucky ones. My muscular dystrophy has been slow moving. Three years after doing the Ironman in Hawaii I noticed my swimming power had decreased dramatically. I passed this off to not training and maybe a bit of ageing. My back had been hurting so I went to a neurologist who took one look at me and said he wanted to test me for muscular dystrophy.

The doctor said my body was extremely disproportionate with a slim upper body and huge legs. He said I had a sway back that was indicative of Facioscapulohumeral Muscular Dystrophy, or FSHD 2. The neurologist said a sway back was the probable reason for nerves pinching in the small of my back.

Other than a sore back, I felt like an amazingly healthy, well-built athlete. I ignored the diagnosis as I believed I was invincible. I ignored the idea that I would get old. I went on to play B level squash and continued to be a 10 k runner. I was forced to quit squash at the age of 52 because I couldn’t raise my racquet over my head. I began a life of climbing mountains as my legs were very strong and doing what I was good at was a boost to my ego. I had stopped doing weights because I didn’t want to break down muscle, I sensed I could not grow back.

In 2013 I financed a meeting of all scientists researching FSHD in the Netherlands but was unable to attend myself. I was keen on a solution for the disease, but I was still of the thought that I was immune to long-term disability. After the conference, I went back to my busy business and family life and ignored the inevitable.

In 2018 I was asked to be on the board of a private company managed by directors with FSHD or with relatives that were diagnosed with FSHD. A few of them were quadriplegics in wheelchairs. As diligent as the scientists and directors have been at Facio, we have been unable to get a molecule ready for clinical trials.

As of 2021 I am 66 years old and many of my muscles have turned to fibrous tissue and fat. My upper body is very wasted, and as of two years ago, two key muscles in my legs turned to fat. I can walk but I must be very intentional and present, or I will trip and fall. If I extrapolate to 2030, I will be unable to walk on my own.

I am not a complainer and I refuse to take my condition lying down. I know there is no performance in life without action. The action I have taken is to commit a great amount of my wealth to eliminating bottlenecks in science. I want to provide speed to a cure, or solve muscle regeneration. My personal motivation will spill over to the many others with Muscular Dystrophy. Thanks for coming along on my journey to live forever or to die trying.