Monica Fleegel was an infant when her parents realized she was "allergic" to the sun. At least that's what they were told was causing the severe reactions she had after being in the sun for even a few minutes. Doctors diagnosed "sun allergies," and Monica spent most of her time indoors. At home, that meant reading books, playing games and watching out the window as other children played outside. At school, "I tried to hide in the shade during recess and phy-ed," Monica tells us. If she didn't, she paid a high price. "The reaction I get to the sun is a burning from deep inside, and feels like holding your hand on top of a broiler," she says. "Having a sunburn doesn't begin to compare."
Monica's understanding of her condition changed in 1971 when a family member had a "really bad sun reaction" while camping. He came to Mayo Clinic's Department of Dermatology hoping for an answer. After meeting with Harold Perry, M.D., her family member learned his symptoms were caused not by an allergy but by a rare disorder called erythropoietic protoporphyria (EPP for short). Dr. Perry couldn't offer a treatment, but he did offer something Monica's family had never had before: comfort in having a diagnosis, and hope that there might someday be a cure. "He gave us a name for what was happening," Monica says. "We knew that if there was a cure, he would make sure we got it."
But the years went by, and no cure came. Monica got married, had a daughter and continued to live life in the shadows. There were no walks to the park, no sitting outside with friends. Anytime she did go outside, she geared up in UV protective clothing. "I used to think about what I'd do if I had one day left to live," she tells us. And the answer was always the same: "I would just be outside."
Four years ago, there was another breakthrough. Monica was enrolled in a phase III clinical trial to study the effectiveness and safety of a drug to treat her condition. The drug worked for Monica, who tells us the experience "was profoundly life-changing." She went on walks with her family, hiked with friends, and went canoeing for the first time. "It was amazing," she says.
But that experience was short-lived. The trial lasted just six months. And now, Monica and others like her are left hoping that the Food and Drug Administration will approve the drug. And though she's rarely discussed her condition, that's starting to change. Monica, a senior Human Resources adviser at Mayo Clinic Health System in Albert Lea, Minnesota, recently traveled to Washington, D.C., to share her story with the FDA, with the hope that her experience may help galvanize support for approving the medication. We're guessing her testimony left an impression. It was the little things, she told the group, that meant the most to her during the clinical trial. Things like "waking up and seeing the sun shining … and knowing I would not have to hide from it." Which sounds like a pretty big thing to us.
You can learn more about EPP by watching this Dateline special or visiting the American Porphyria Foundation website. Then, be sure to leave us a comment below before you use the social media tools to share this story with others.