Erythropoietic Protoporphyria (EPP)
Ann Warnke had her first symptoms of Erythropoietic Protoporphyria (EPP) when she was 13 years old. A friend of the family took Ann and some other kids deep-sea fishing, and after she got home that night, her face swelled up so much that she couldn't open her eyes and her nose disappeared. The capillaries under her skin burst too, so that she looked bruised as well as swollen. She says she looked "like I'd been beaten."
Her doctors first thought the swelling and bruising were a bad reaction to something she had eaten, and Ann would go on to have many more photosensitive incidents before she was finally diagnosed with EPP as an adult. Yet the knowledge of her own diagnosis allowed Ann's younger son to be diagnosed by the time he was three years old. Just like Ann, Matthew got to go out on a boat for the day with his dad, but the sun made his skin burn to the point that holding a hot dog was painful, and his ears turned inside-out from the swelling.
These days, both Ann and Matthew have their EPP well under control. They both use UV-protective clothing, and can even go skiing sometimes or take a cruise with the help of a face mask, an umbrella and pharmaceutical-grade beta-carotene. Ann notes that Matthew's diagnostic labs don't show such high numbers as her own, and that he appears to have milder photosensitivity than she does. But for both of them, a photosensitive reaction with EPP means swelling, itching and painful burning that can take five days to subside. During that time, the Warnkes turn the A/C down low, and use ice bags, Benadryl and Tylenol 3 to ease the pain.
Ann uses Lumitene (pharmaceutical-grade beta-carotene) if she needs to increase her sun tolerance without increasing the symptoms of EPP. At home, she prefers to cover up and avoid spending time outdoors in the sun, because taken over a lengthy period Lumitene turns her skin orange and gives her some gastrointestinal upset. But when going on vacation she'll begin taking Lumitene a few weeks before leaving home, continue throughout the vacation, and then taper off it after she comes home. She still covers up all the time, but she is able to stand more time in the sun with Lumitene.
Back home, Ann has special tinting on her windows to protect her from the sun's UV rays. APF Scientific Advisory Board member Dr. Micheline Mathews-Roth helped Ann with the window tinting and has gotten testing information to Ann's doctors. Ann calls Dr. Roth "just phenomenal, extremely good and accessible." Dr. Roth has been a wonderful resource both for the APF and for EPP patients.
Ann is a wonderfully positive person and has a fantastic attitude about dealing with her condition.