Teen Makes Leap in Study of Own Rare Disease

At 18, Elana Simon is already the co-author of a study in the renowned journal Science. The subject? Her own rare liver cancer, which she was diagnosed with at age 12. Together with scientists, another survivor of the disease, her surgeon, and her dad, who runs a cellular biophysics lab, Simon was able to discover what the AP describes as an "oddity" in fibrolamellar hepatocellular carcinoma, which mostly hits kids and young adults: an abnormal protein inside the tumors, but not in healthy liver tissue, that may fuel cancer growth. Their analysis of cancerous tissue from 15 patients found every single one had the gene mutation that caused the protein.

While more research is needed, the New Yorker says the study suggests "a precise diagnostic for fibrolamellar cancer," a cancer so rare only about 200 people are diagnosed worldwide each year. Surgery is the only effective treatment for the cancer—which Simon herself underwent—but she learned there was no registry for affected tissue samples that could be collectively studied while working at a lab during a high school internship. With her surgeon's help, she took the initiative to begin collecting those samples, and has created a database for patients to share their data. "It's crazy that I've been able to do this," says the New York City resident, whose next big endeavor will be studying computer science at Harvard in the fall. (More rare diseases stories.)