“Tag, you’re it!” he yells, barely touching my back as I jump onto the gray concrete barrier that separates the playground sand from the rest of the schoolyard.
“No! I’m safe! Concrete is safe!” I scream.
He turns laughing as he sprints away, looking over his shoulder with a bright grin, taunting me to catch him. I shriek as I leap off the barrier after him, adrenaline filling my veins as I hurry to catch him.
Little did I know that three years later I would be standing over his casket in a room filled with photos of his short life. I remember standing on my tiptoes to stare at his seemingly sleeping 10-year-old body, knowing deep down that we would never play tag again.
My childhood best friend died of a rare genetic brain disorder called adrenoleukodystrophy. This disease destroys the myelin, the protective sheath that surrounds the brain’s neurons, affecting the ability to think and control muscles. His behavior changed dramatically. But when his parents brought him to doctors to find out why, he was misdiagnosed as having ADHD. By the time they figured out he had a life-threatening genetic disorder, it was too late.
His death has haunted me for years, affecting my mental health and my ability to make new friends for the fear of losing them. In more recent years, even though his death saddens me, I became angry because I realized he died because doctors did not check for genetic disorders. It could have been avoided. In fact, his younger brother, who has the same disorder, is alive today because doctors did genetic testing.
Looking back at his death, I began to think about others going through the same thing, losing someone close to them because genetic testing wasn’t done. These concerns led me to an organization established by parents who lost a daughter to a rare genetic disorder, similar to the one my friend had. That organization hosts an annual race to raise money for further genetic research. When I was 13, I decided to participate in the kids’ race and even took first place. Through the race, I met and became close with the family that founded the organization. They helped me get involved with the large rare-disease community in Minnesota. I discovered the number of people affected by rare genetic disorders spans far past my imagination.
Through the connections I had made with that organization, I learned about Rare Disease Day, an inspiring event that attracts people from all over the state. I first attended when I was 16. I was interviewed on TV news story about my friend’s story, which made me feel more connected to the community by sharing what happened to him with a broader audience. The next year, even though my plate was full with school and sports, I wanted to get even more involved. So I volunteered to send hundreds of emails to Minnesota-based rare-disease nonprofits to invite them to attend Rare Disease Day. Attendance was up that year, and some people told me my email was the reason they were there. I was encouraged that my actions were making a difference!
Even from a young age, I realized I could raise awareness of how many people are affected by rare genetic disorders. But now as I am approaching adulthood, I know I want to make a bigger impact by studying genetics and dedicating my future career to expanding this field. I want to help parents discover if there is a genetic explanation behind their child’s symptoms. I want to do whatever I can to make sure that other kids, like my childhood best friend, can play tag past the age of 10.
