Hello all I wanted to share a story with you his name is Andrew Turell he has EPP. I thought you might want to read his story to understand what a young person goes through. Enjoy reading and if you have a story you want to share please let me Amy Chapman know.
Type of Porphyria:
Erythropoietic Protoporphyria (EPP)
Although I was not diagnosed with porphyria until I was 10 years old, I have always suffered from the pain caused by spending too much time in the sun. As far back as I can remember beach vacations and summer camp were always linked with itching, burning and sleepless nights. Before I was able to verbally articulate the sensation, the only reason my parents believed that the pain was real was because I would continue to scratch my hands and face even once asleep (fortunately, I do not get blisters or other visible symptoms).
I visited a number of doctors and was tested for a variety of allergies, but nothing stopped the reactions. Every summer, I would inevitably experience a handful of painful reactions that would last between two and three days. Ice packs and cool wet towels were the only things that could alleviate the itching and burning. Unable to sleep, I would hole up in the basement because that was the coolest place in the house.
By chance my parents after one of my reactions, my parents were talking to an acquaintance who is a dermatologist. She diagnosed me on the spot without ever having seen me and suggested that I go to see Dr. Vincent Deleo. I did so, and he diagnosed me, put me on Lumitene and recommended certain sunscreens. Over time, I learned to take better care of myself and prevent reactions by reapplying copious amounts of sunscreen, wearing pants and long sleeves and avoiding sun exposure whenever possible. Even with all those precautions, I still continued to suffer a few reactions year.
Since I was a young kid, I have always loved baseball. Despite my EPP, I have continued playing and have recently started coaching as well. I wear long sleeved turtlenecks even on the hottest days of summer, and while playing baseball has caused the vast majority of my reactions, it has all been worth it.
Last year, I participated in the Afamelanotide trials at Mount. Sinai Hospital in New York. That summer, I spent more time outside than ever before and yet I did experience one bad reaction.
Currently, I am a student at the University of Pennsylvania where I am active in my fraternity, Psi Upsilon, and play on the club baseball team, eagerly awaiting the approval of Afamelanotide by the FDA.