Erythropoietic Protoporphyria (EPP)
JESSI BRILL lives in Northern Virginia. I was diagnosed with EPP about 5 years ago, but my first episode was when I was 18 months old. As, I'm sure, many of you can relate, I ran the gauntlet growing up trying to figure out what was wrong with me. After being told that it was anything from having inactive sweat glands that caused swelling to just flat out being told it was all in my head, I stopped going to see doctors until I was 25 when I found the APF. It was after my parents were watching "Mystery Diagnosis" and saw the preview of the next episode of the little boy who was having reactions to the sun. They looked at each other after only watching the preview and said "That's Jess".
After making the 7 hr. drive to Charlotte, NC I met with Dr. Bonkovsky who tested me and all the years of no answers narrowed down to a 1 hr. meeting with him telling me that I’m not crazy and there is something causing this pain and these episodes. I only have my reactions in the warmer months. I have never had a reaction during the winter. And although I love the winter, I have never been skiing or snowboarding in my life so no extended trips outside. Dr. Bonkovsky thinks that this is the reason I've never had a reaction during the winter months.
I have a 1 year old little girl (Lexi) that I pray doesn't have to go through what I did my entire life. I remember all too well what it was like growing up being the kid who couldn't go out and play. I don't want that for her. Even though what I know now would make things completely different for her, still.
So, my question for anyone willing to share ... for those of you with EPP who have kids, how do you do it? We went on our first family vacation this past summer and of course it was to the beach. I lasted 2 days with limited time in the sun before I couldn't do it anymore. The rest of my family was there so they took her out for me but it doesn't stop the emotions or tears from getting overwhelming when you know you can't do stuff with your child because of this.
Editor's note: Porphyrias are family diseases, which affect every member of the family.