I would like to hear from you. Do you know someone with a rare disease or do you have one yourself? And if you want you can give me permission I will select some of the stories and write about them in this blog. Send your story, with your parents’ permission, to: K’s Korner, c/o The Genetic and Rare Diseases Information Center. PO Box 8126, Gaithersburg, MD 20898-8126.
My name is Khiya and I’m a junior in high school. My main interests are robotics, mathematics, and art. Before the 2017 school year ended, I looked for a summer job and heard about the pathways program at the National Institutes of Health. I was interested in computer science or engineering. However, I also signed up for jobs that I was curious. Rare diseases caught my interest. When I was accepted as an intern at the National Center for Advancing Translational Sciences (NCATS), I did some research on what I might do there. I found out that I would be working for the Office of Rare Diseases Research and my job would be to interview people from the rare diseases community. I listened to their experiences and wrote about them to show other young people who might not know much about rare diseases what it is like to be diagnosed with a rare disease and to live with it for a life time, or to be a caretaker of a loved one, or to be a researcher to find a treatment or cure for any of the almost 7,000 rare diseases that exist. The hardest part for me was to handle emotionally the stories that I heard and to see the pain and suffering in people’s voices, even sometimes many years after they had taken care of a loved one. One of the hardest stories for me to hear was from a mother who had two children with a devastating rare disease and who later died just a few months apart. More than any other story, this one really opened my eyes to the importance of research for diagnosing and treating rare diseases. I will be grateful forever for what this job has taught me about what people can endure emotionally and physically, and what capacity they have for love.