Erythropoietic Protoporphyria (EPP)
I have experienced symptoms of EPP for most of my life without knowing what was causing them. My symptoms gradually got more severe as I got older, and doctors just referred to it as photophobia. I learned from experience to avoid both sunlight and fluorescent lighting as much as possible. People saw me as weird at times because of the way I dressed, covering up as much as possible. I explained my light sensitivity to many people as best as I could, but without a diagnosis, most people didn’t truly understand.
I am a nurse by profession, so I was able to work the night shift for most of my career. This was very helpful to me. It allowed me to dress in a more “normal” fashion.
As a child, I remember turning bright red after a short time in the sun, followed shortly by the itchy burning feeling. Longer periods in the sun would make me feel physically ill. Being a child, I didn’t know that this wasn’t normal.
As I got older, my sensitivity to light increased. It is to the point now, that a few minutes in the sun and any exposed parts of my body literally feel like they are on fire. I’ve learned to deal with that in order to have a more normal life, and not live in isolation. I was fortunate enough to finally find a woman who truly understands and accepts me for who I am. We’ve been happily together for many years now.
My diagnosis of EPP came by accident. Totally unrelated, I was diagnosed with an autoimmune disease, Hashimoto’s, in 2014. My wife was also diagnosed with Hashimoto’s. After a long battle getting that under control, we decided to get genetic testing done. We did “23 and Me”.
We took the data from “23 and Me” and had it analyzed in more detail. This was where we found the two alleles responsible for my EPP. That gave me the information I needed to finally get diagnosed.
Since getting the diagnosis, what I do from day to day hasn’t changed much. I was already doing most of what is recommended due to my symptoms. What has changed is the fact that I can now tell people why I do what I do and dress how I dress and give them a medical reason for it. That has made life much easier. Especially since I am working in the daytime now. People seem to better understand the situation when there is a diagnosis involved. At least that has been my experience anyway.