Member story from Ukraine to Michigan- Please keep our friends in thought and prayer in this time of war.
Erythropoietic Protoporphyria (EPP)
I was born in Ukraine and remember having my first symptoms of Erythropoietic Protoporphyria (EPP) around the age of four. After spending a day outside, my hands began burning and itching. They felt like they were on fire, but there were no visible changes. As I was falling asleep, I put my hands anywhere cold—under the pillow, against the wall, against the metal railings of the bed. I was in a lot of pain and cried a lot, but no one knew what was wrong. I received every “diagnosis” from being allergic to the sand, to clogged pores, to getting stung by a jellyfish.
This continued throughout my childhood, without any diagnosis. Since I had no visible changes, it was difficult for anyone to understand what was happening or how to help me. When I was 11, my parents and I moved to Michigan. After another day outside, in addition to the burning and itching, my hands and fingers swelled up. My fingers were so swollen that I couldn’t bend them. A doctor told me to elevate my hands and put cold towels on them.
That didn’t help, but the swelling went down 3-4 days later. I kept going to doctors. A dermatologist told me I had delayed onset PMLE (polymorphous light eruption) and suggested I try some creams when I swell up. My symptoms did not match those of PMLE, and I didn’t want creams for when I swelled up—I didn’t want to swell up!
When I was 20, I spent a summer studying in the United Kingdom. After spending a day outside, I woke up the next day with swollen hands and a swollen face. My eyes were almost swollen shut and my forehead was very puffy. Still, no one knew what was wrong. Doctors suggested that I take anti-inflammatory medication.
A few years later, I saw an episode of Mystery Diagnosis on the Discovery Health Channel featuring Craig Leppert and his EPP diagnosis. Craig’s symptoms were identical to mine—they could have written that episode about me! I paused the show and wrote down the name of the condition that Craig was diagnosed with. I looked it up online, and all of the symptoms matched mine perfectly. I bounced between some more doctors and eventually got a referral to a hematologist. I brought him a picture of my swollen face, a printout of an article about EPP and asked him to test me for it. The test came back positive.
I am now 26 and am happily employed indoors as an attorney. I buy a lot of clothing from coolibar.com and cover myself up as much as possible. My hands hurt the most and driving is the hardest part. I wear white gloves, which help tremendously. I am very thankful to the American Porphyria Foundation and to Craig Leppert for helping me find a diagnosis.