This past July, I completed my first Ironman in Whistler Canada at Ironman Canada. It is still unbelievable that I was able to finish the 140.6 miles of swimming, cycling and running through the mountains around Whistler and Garibaldi Provincial Park. The motto of Ironman is “Anything is Possible”, but I think those words better describe what it is like to live with an undiagnosed disease. This year, I am partnered with the Szajnuk family. Gina Szajnuk and her children all suffer from undiagnosed rare diseases. On a daily basis, they struggle with mysterious ailments and diseases, and hope that one day, they will have answers.
I first joined the Running for Rare Diseases team back in 2009 when the program was in it’s infancy. Since that time it has come quite far, with first partnering runners with members of the rare and undiagnosed disease community in 2010 to over 100 runners participating in the Boston and Providence Marathons in 2015. I remember when Phil Maderia first kicked off the initiative in 2008 to raise awareness about the rare disease community by asking for runners to support this cause and partner with this community. Over the past 9 years, real and long lasting connections have been established between the runners and members of the rare disease community.
While I was an employee of Genzyme, a company that specialized in treating Rare Diseases, I didn’t know what those three words meant and what it means for these patients in everyday life. Through the amazing community built through the running for rare team, I have seen first hand how many families live those three words every day. While some patients are lucky to receive a correct diagnosis quickly, many others receive the wrong diagnoses over several years, or worse yet are undiagnosed. Those that don’t have answers to their medical and health ailments are often referred to as medical refugees.
As I reflect on completing my first ironman, it struck me how positive families such as the Szajnuks are, without having answers to their own health and wellness issues. Through their amazing work on behalf of the rare and undiagnosed community, many other families and supporters are realizing that anything is possible. It was this thought, that I used while training for the Ironman, that for familes such as the Szajnuk’s, that anything is possible and really gave me motivation to keep working hard in bringing awareness about the Rare and Undiagnosed community.