Fairfax Co. teen turns rare disease diagnosis into youth-led support, advocacy
Isolation was becoming a problem in 2020 when the world was beginning to learn about COVID-19. The feeling of being alone become much more severe when Khartik Uppalapati was diagnosed with two rare diseases.
“I was diagnosed with a rare disease during the COVID pandemic during my seventh grade year,” said Uppalapati, now a 16-year-old student at Oakton High School. “I was really shocked, confused, and didn’t have any resources to deal with this rare disease and manage it.”
He said that the period of determining what was wrong was one of the most difficult.
“I traveled to Children’s Hospital in Philadelphia four or five times, and I went to other doctors eight times, just to get a diagnosis for arteriovenous malformations of the hip and lymphedema, which are the the two disease that I have,” he said.
After isolation, while researching support groups, “I noticed there are disease-specific advocacy organizations, but they tend to ignore the youth,” Uppalapati said. “They’re not really focused on the quality of life, they’re more focused on working with industry or academia to accelerate research for their specific rare disease.”
Uppalapati co-founded RareGen, a, non-profit advocacy group, whose vision statement “envisions a world where every young voice has the power to transform the narrative of rare diseases, ensuring that no individual feels invisible or unsupported.”
“What I wanted to do is create a space specifically for the youth that allowed them to advocate for their rare disease and also support each other through events where they can share their experiences, or learn something insightful from others,” he said.
Typically, common diseases receive larger amounts of research funding, in part because of a larger patient population.
“There are people who are willing to work on rare disease research, especially the Chan Zuckerberg Foundation (headed by Meta founder Mark Zuckerberg and his wife, Dr. Priscilla Chan), they have a whole initiative for rare diseases,” Uppalapati said.
Presently, there are some challenges for developing new treatments and prevention for rare diseases.
“There’s not a lot of data to support rare disease research. For instance, a lot of research is AI, but AI only works well when we have data on patients,” Uppalapati said. “When we see there’s a couple rare disease that can be bunched into one group or cluster that’s similar, those are easier to do research on, which is why they get more attention.”
Uppalapti’s youth advocacy group is attempting to raise awareness, “since it’s all about the numbers.”
“Even though rare diseases are rare, there’s so many people who have rare diseases,” he said, adding that a person doesn’t have to have a rare disease to join RareGen. “We need people who can advocate for us, and show policymakers that our issues are not that rare, and that our issues shouldn’t be neglected.”