April 21-28, 2018 is National Porphyria Awareness Week. While there are various forms of porphyria, the one our family battles against is Erythropoietic Protoporphyria (EPP). EPP is a rare genetic blood disorder that, when exposed to light, leads the skin to react with varying intensity causing excruciating pain. The pain of EPP is described as a toxic reaction under the skin, similar to immersing your skin into boiling water.
I have two shadow jumpers (5 and 7 years old), which is what we call kids with EPP. It took several years for us to find answers. When my son was 2, we were out on the lake for a fun-filled day of swimming, boating, and floating. While he did get somewhat fussy during the trip, that all seemed pretty typical. I mean….he was 2. On the way home, however, that is when our eyes were opened. He was crying and complaining about not feeling well and his arms burning. Initially, we just assumed he was hot. We turned up the A/C, put some aloe gel on his arms but he persisted with the crying and complaints. He said his arms were itchy and he was rubbing them obsessively. His tearful pleas for the pain to go away and our inability to help relieve any of it continued for the entire evening. Over the next 4 years, we had more episodes like this than I would care to admit. Some episodes were minor and went away after mere hours but some caused his hands and face to swell to the point where it hurt to bend his fingers and he could hardly open his eyes. At times that outbreak would last for days with each day being a little more tolerable while we lived in total darkness with icepacks and fans. Eventually, our middle daughter joined in on the misery as well.
We were not very open with others about the kids or their struggles. We didn’t know what we were dealing with and were a little embarrassed to try to explain something that didn’t seem to exist. We are forever grateful though for our sister-in-law who overheard a friend talking about her inability to be out in the sun. This triggered a domino effect. The next thing I knew, we are getting referred to Children’s Mercy, having blood tests, genetics tests and were diagnosed with EPP in the Fall of 2017. We now have a support group, answers, and clarification.
What we don’t have, though, is a treatment. Unfortunately, EPP is so incredibly rare that there is no cure and treatment options have not yet to come to the U.S.
I share this story not for sympathy but for understanding. My children are strong and will not be defined by EPP. I do, however, want others to know about the disorder. I want people to be educated. To watch a child deal with this pain and not understand what is happening is indescribable. I can’t count the number of nights I cried myself to sleep because I felt hopeless. I do not want any other parent to feel this way. I want to bring awareness and open people’s eyes. This disorder is rare but it is not minor.
If you would like to learn more or donate to the American Porphyria Foundation to help with research, you can go to http://www.porphyriafoundation.com/. You can also support the APF by selecting them as your charity on Amazon Smile.
Remember that research is the key to our cure.
Allison Stuhlsatz, originally from Olpe, KS, moved to Wichita in Spring 2012. A country girl at heart, her family moved to the outskirts of Wichita, and she was able to work remotely as a college dean. Allison and her husband have 3 kiddos (7, 5, and 7 months) and a young energetic black lab. She is a blogging newbie, aspiring writer, running enthusiast, and Murder, She Wrote fanatic.