Erythropoietic Protoporphyria (EPP)

Erythropoietic Protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene. This isn’t a widely known disease, because all over the world, there are only about 10,000 people who go through EPP. But even the torment these selected people go through is enough to send shivers down one’s spine. It’s impossible for one to even imagine what the EPP patients undergo. 

Recently, the Covid-19 hit the planet and it affected almost every place on the earth. Almost every country was locked down completely for at least some time. All of us were locked inside our houses, and barely got to go out. This was temporary. But for the patients of EPP, it’s nearly permanent. EPP causes skin pain on exposure to sunlight, most often on the tops of the hands and feet, face and ears. Pain can be severe and last days after sun exposure. There may not be anything to see at the time. Prolonged exposure can result in some redness and swelling, and uncommonly in blistering and crusting. This is why EPP patients never move out in sunlight. They always remain inside. It’s like they’re trapped in their own houses

 

Most cases of EPP are found in the USA. Out of 10,000 in the world, 4000 cases are from the Unites States. One such case is of a 13 year old girl called Savannah Fulkerson from California who was 9 when she was diagnosed with EPP. She described her first flare as burning and itchy. She can only move out in early morning or late night. She has to spend a lifetime of quarantine. We, being so old couldn’t stand being in our houses for a few weeks, and imagine, this 13 year old girl has to spend her whole life trapped inside her house.

 

EPP is the third most common porphyria—estimated to occur in about 1 in about 74,300 individuals—and the type most often seen in children. Women and men appear to be equally affected. Currently, there is no cure to the disease. Once a patient of EPP, always a patient of EPP. However, there are ways to manage it. Some clinical management techniques are enlisted below in the table:

    

Courtesy: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096108/

 

After learning about such people, we realize how easy life went on us, and how harsh it could’ve been. It makes us appreciate things and influences us to notice even the small goods life brings to us.

“When we least expect it, life sets us a challenge to test our courage and willingness to change; at such a moment, there is no point in pretending that nothing has happened or in saying that we are not yet ready. The challenge will not wait. Life does not look back. A week is more than enough time for us to decide whether or not to accept our destiny.”
― Paulo Coelho, The Devil and Miss Prym

 

                                                                                                                                                            Written by :- Anushka Mathur, Abhishek kumar , Rituja chouhan