When our older son was 2 1/2 years old, we were told he has a rare neuromuscular disease that doctors and researchers knew very little about at the time. Our reaction was to ask two questions:
What do we need to do to care for our son?
What can we do to help further research?
The first question is an obvious one, but the second question is not. I’ve watch newly diagnosed families fade into their own world with little interest in learning about current research and development of treatments and cures. Conversely, some families frantically search for anyone doing research on their specific disease and hold fundraisers to support this research. Neither reaction is better than the other and both have their pros and cons.
We became the latter family. We found and enrolled in a research study at Boston Children’s that ultimately led us to a genetic diagnosis for our boys. We began an annual fundraiser we call the Brothers K, and, in nine years, we have raised over $100,000 to support SELENON research. We traveled to the National Institutes of Health (NIH) a few years ago so the boys could participate in a natural history study for their specific disease. All good things, but my impetus was reactionary. I wanted to DO something because there was very little else we could do. I wanted a cure immediately, because this was a problem to be fixed.
Now I think a little differently about research and fundraising for it. I still think a treatment or a cure for SELENON related myopathy is possible and, with the current pace of science and medicine, likely to occur within our boys’ lifetime. However if the discovery of a cure or treatment never benefits our boys, I’m OK with that reality.
Sure, it would be nice to have more tools in our belt to improve their health and well being. Of course, the fact that this disease can be life threatening looms large. But who they are and how their disease affects them are inextricably linked. They have been set on a life path that has taught them hard lessons resulting in resilience and a unique life perspective.
We’ll continue to support research in any way we can, but I feel less frantic about it. It may not change our boys’ lives but it will change someone’s life. For me, that is enough.