Emily Pearson was just eight years old when brief periods of sun exposure began leaving her hands and feet in excruciating pain, feeling as though they were in a hot oven and being pricked with pins and needles. For the next decade, her parents searched for answers, relying on sunblock, protective clothing, and staying indoors. Family vacations at their Minnesota cabin turned into endurance tests, and she lived with constant stress and a heavy mental load just to manage basic daily tasks like going to the grocery store or taking a car ride. At age 17, a doctor at the Mayo Clinic diagnosed her with erythropoietic protoporphyria, a rare skin disorder that acts essentially like a sun allergy. To cope, Pearson turned to running, either layering up or running in the dark at sunrise and sunset, but she always dreamed of participating in a marathon. In 2025, while volunteering at Sun Escape, a camp for children with EPP, she learned about a clinical trial for an investigational drug called bitopertin. Dr. Sioban Keel, a porphyria expert at the University of Washington, explained that patients with EPP carry mutations causing their bodies to produce excessive amounts of protoporphyris IX, a naturally occurring molecule in the skin that becomes activated by sunlight. Bitopertin functions as a once-daily pill that successfully lowers those molecular levels. Pearson joined the second phase of the clinical trial and started taking the medication regularly in July 2025 with check-ins in Boston. Within weeks, her sun tolerance began to climb. Clinical trial data released by Disc Medicine in April indicated that the drug significantly reduced protoporphyring-IX levels and improved sunlight tolerance without notable safety concerns. Although the FDA declined an expedited review while requesting more data, bitopertin advanced to Phase 3 trials with 183 patients enrolled and final data expected in late 2026. Pearson stayed on the treatment through an open-label extension. In October 2025, she achieved her lifelong dream of running her first marathon in a simple T-shirt and shorts. Following another race in June, she spent a full week at her family cabin outdoors from sunup to sundown without suffering reactions. While she occasionally encounters minor symptoms after extensive outdoor exposure, the pain is vastly reduced and her overall tolerance is much higher. Pearson now looks forward to running another marathon in June 2027 and potentially tackling a triathlon, feeling twenty times happier and free from her previous anxiety.
Source: cbsnews.com
