Erythropoietic Protoporphyria (EPP)
Here is our story on my son, Briggs. I am beyond grateful for the APF. Without the APF we may not be where we are today with a diagnosis.
At three years old, Briggs began having problems with sun exposure. His symptoms started in February of that year. His hands would itch, burn and sting. He would scream that bugs or monsters with pointed noses were trying to come out of his skin and that the ants were in his hands and feet. He did his best to try to communicate his pain. We went to our pediatrician as well as an allergist/immunologist. He had many sets of bloodwork and allergy testing. We were left without answers. He had no swelling, rash, or heat on the skin. We went to the beach in July. After one day of sun exposure he had a full-blown episode. Until this point, we didn’t realize that the episodes could be worse than what we had seen up to that point. We had multiple nights where he was up until 4am screaming. After the day of sun, we allowed him no more, but his symptoms remained. We used fans, cool rags, water, ice packs, Benadryl, Tylenol, you name it and there was no relief.
Following this trip, we amped up the search for answers. We had moved to another town, so we started with a new pediatrician. From here we saw two different neurologists and another allergist/immunologist. Briggs had countless tests, and nothing came back with any clear answers as to what was causing his symptoms. Briggs was never symptomatic when we were in front of a doctor. I recorded episodes and would play them for each doctor. Over the fall/winter months, the episodes decreased and finally went away. We thought we were home free, and that it was just something odd that he went through and it was “gone.”
He turned 4 in November, and around March the symptoms returned. He was in the sun one day over spring break and he had another full-blown attack. My dad and I began to dig tirelessly on the internet over the next couple of days. In our previous searches, the symptoms from conditions that we came across were not a perfect fit. Most conditions we came across would present with a rash, swelling, heat, etc. and Briggs never had that. Finally, my dad came across a Dateline special titled “Out of the Shadows.” After seeing this, we were combing the internet for EPP. I went to the American Porphyria Foundation website and read the “Member Stories” posted on EPP. For the first time, I felt like I was reading our own story. I contacted APF the next morning and they were such a fabulous resource. They provided a list of specialists, instructions for testing, and encouragement as we walked down this road. I read and printed a stack full of literature and took it to our pediatrician. She connected with a specialist out of state and he was tested. We received a call from the doctor confirming that Briggs tested positive for Erythropoietic Protoporphyria. I knew in my heart this is what it was, but having the confirmation was difficult.
At this point we’re only a week and a half post diagnosis. We’ve purchased sun-protective clothing and are making the needed adjustments to ensure that he is episode free. Our goal is to be as creative as possible with how our family lives life to give him as normal of a life as possible. My daughter contracted bacterial meningitis at 7 days old, and from our journey with her, I learned that as parents and caregivers we must be advocates for those we love. With Briggs, we were aggressive in our search for a diagnosis. Some people passed us off as overreacting or were simply okay with not having an answer. If you are pre-diagnosis, I encourage you to not stop.