By Shannon J. PT, DPT, OCS
November 10, 2018, was the day that rocked our world. I was a first-time aunt, and my sister a first-time mother, to what we thought was a perfectly healthy baby boy. You can imagine our shock when my sister first received the news that Theo’s blood phenylalanine was significantly high, suggesting he likely had the diagnosis of Phenylketonuria, or PKU.
My family and I have always been very fortunate that our bodies did not fail us much. My sister and I were collegiate athletes, our parents healthy and mobile into their 60s, and Theo was born looking like a very typical, healthy baby. The more we have become involved with the rare community, the more I think of our history as a blessing.
I knew I needed to help somehow after watching my sister struggle daily for months on end. She and her husband had to (and still have to) measure every ounce of food that is fed to Theo. I remember her speaking of National Organization of Rare Disorders (NORD) for the first time, and how they were providing guidance and assistance to her and her family. It was that day when I Googled how to get involved.
The best way I knew how to get involved was through athletics. I reached out to NORD’s Running for Rare program to see if they had an opening on their NYC Marathon team to raise awareness for this amazing organization that was helping my sister and her family. I was fortunate enough to run the 2021 NYC Marathon representing NORD and Running for Rare. I raised over $5,000, networked with incredible members of the rare disease community, and learned more about rare diseases than I could have imagined. I had THE BEST DAY and decided I couldn’t let that be my last experience with NORD.
Although I said I’d never run another marathon, I am a physical therapist and certified running coach, so I offered those services and was brought on board the Running for Rare team as a coach! Luckily for me, this experience blew my expectations out of the water. Not only do I get to use my medical background to help members complete the marathon of their dreams, but I get to be the biggest hype-girl on the sidelines for these runners and hear their stories and their Community Partners’ stories.
At the 2023 Boston Marathon, we had a crowd of about 20 people in the pouring rain cheering on our runners. We had another runner who, due to medical reasons, was just walking and running at whatever pace kept him going. He was happy as a clam to be alive and running to represent himself. It was after dark, the finish line was being deconstructed and the race ran out of medals, but a small group of us found him taking the final turn! We were screaming his name and found a medal to put around his neck upon finishing. The huge grin on his face running down that final stretch will stay in my mind forever.
I volunteer my services for many reasons, one being that I love my job and running. To be able to provide those services in a setting where I get to help people accomplish their dreams of finishing marathons is very rewarding. Additionally, it allows me to continue raising awareness for Theo and PKU. Finally, and the reason I least expected, is I do this to continue changing my life for the better. This community that my family and I never thought we’d become a part of has brought us some of our favorite friends and memories. I am forever inspired by the stories of others and how we are all in this for the same goal. I do not plan on stopping any time, and I will continue to offer professional wisdom and hype-girl energy until they are done with me!
Thank you to NORD, thank you to Running for Rare, thank you to each runner and Community Partner who has already changed my life, and cheers to those I will meet in the future.
The 2024 Boston Marathon is this Monday! Meet the full Running for Rare Boston Marathon team, their Community Partners and the conditions they run for, and donate to the runners of your choice here: runningforrare.org/team-members/runners.
Want to learn more about volunteering with NORD? Attend our upcoming webinar on Thursday, April 25, 2024 at 7:00 p.m. ET! Register at bit.ly/4aFwQhq.
Ready to make a difference? Sign up to volunteer with NORD today at rarediseases.org/volunteer-application.
