Erythropoietic Protoporphyria (EPP)
My name is Jackie Cory and I have Erythropoietic Protoporphyria (EPP).
At a very early age I started complaining of extreme burning in my hands, knees, face, any exposed skin. I would cry & wail but no one understood. At 5 years old I remember being put in a bathtub full of ice & water. It helped but only for a while. When I went to camp in 5th grade my hands swelled shut so I couldn't make a fist. I was so embarrassed & in pain. In junior high I couldn't do all the cool things my friends did like go berry picking or hang out at the beach. I was different & no one understood me. My parents took me to various dr's but that only led to cortisone shots, allergy pills, special soaps & tranquilizers. I can still remember the awful taste of milk with atarax in it. I couldn't sleep, I would get up at night, run my hands under cold water then blow on them till they'd dry, then get up & do it again. I was always seeking shade, positioning my hands anyway I could to be hidden from the sun, in pockets, back to the sun, under my legs... anywhere but in the sun. I could never explain it to anyone, after all my hands weren't red or hot to touch, must be in my head right? One day when I turned 35 I went to a dermatologist to see about getting some "tanning pills" I'd heard of. I thought since I'd never been able to tan this might help me stay out in it & feel "normal". He said it looked like I may have Erythropoietic Protoporphyria (EPP). He did a urine test & right there & then changed my life with a diagnosis. Now I had a real disease!!! All my suffering & pain was validated. At that time I had 2 boys aged 3 & 5, neither with any symptoms. I learned of sun protective clothing & uva/uvb sunscreen. Luckily at this age I didn't care if I was a "sun nerd" with big hats, gloves, long sleeves... I now had a real disease! Learning of the American Porphyria Foundation was another huge plus. I could actually read about other people like me! A few years ago I participated in the clinical trials for Scenesse in San Francisco & on one occasion actually got to talk with 2 men that also had EPP. It had been my life-long dream to actually meet someone else who had endured this monster. Thank you APF!!!! I am now 62 with a loving husband, two grown boys & a wonderful grandson that all love & accept me for who I am, "sun nerd" and all.
I would just like to mention that my brother also has a rare genetic disease, Alpha 1 Antitrypsan Deficiency. We had an older sister who was born with scorrosis of the liver & died at age 5 due to it. We'll never know which genetic disease contributed to that but wow, how rare to have 3 children, all with a rare, unknown disease back in the 50's.
Thanks so much for taking the time to read this. Knowing that other people understand and care means so much
Jackie Cory