What is EPP to me?

Erythropoietic Protoporphyria is a mouthful of garbled noises that most people don’t recognize as English, or any other language for that matter. The medical community has decided that this 28-letter, 13-syllable vocal exercise is the name of a rare genetic disorder. The professionals that comprise said medical community have been generous enough to provide an acronym dubbed EPP, so you can say that instead. With months of hard training, during which I suffered numerous vocal and oral injuries, I finally managed the pronunciation without a single spitball, so don’t be embarrassed if your mouth trips over itself your first time annunciating Erythropoietic Protoporphyria.

My blog isn’t about EPP. It is more about being alive while experiencing EPP, and trying to understand who and what I am, while throwing in what poor, dry humor I can muster. But, since a basic understanding of EPP is necessary for this, I will try my best to describe how it affects me on a physical level.

If my skin is exposed to direct sunlight for a sustained period of roughly around 3-4 minutes, I experience severe pain in those areas of my skin. For me, there are usually no visible symptoms.

I am often asked, “What does it feel like? Is it like a really bad sunburn?” I have no idea what a sunburn feels like, but from descriptions I can only say, no, it is not like a bad sunburn. Unless, of course, a bad sunburn is analogous to psychologically breaking torture. If that was so, I imagine everyone would be terrified of going to the beach. So, my answer is no, at least I don’t think so.

Imagine a sensitive and raw combination of burning, itching, tingling, and freezing pain on your skin that cannot be soothed or lessened by common medicines. Every sensation on the skin magnifies the pain. Clothes, water, any sort of physical touch is unbearable. Even movement causes indescribable pain. I cannot really describe it because I have never felt it before. I want to scratch it like crazy, but any form of touch makes it so much worse that I immediately regret it. I have only made that mistake a handful of times.

This pain can last for days at a time, and is as intense from the moment it starts until the last day, where it sort of piddles to a mild numbness and hypersensitivity.

There is currently no form of treatment that is accessible in the USA, although I hope that will change soon. I work around the challenges I face by staying indoors during sunny daylight hours or covering up in heavy clothing, a hat, a mask, and gloves. I know that I look like a threat to society when I dress like this, but it’s either instill panic into the local populace or suffer from horrible, prolonged agony. I’m not one much for torture, so I hope your heart is up for a good fright.

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5 thoughts on “What is EPP to me?

  1. I was diagnosed with this a few years ago by a dermatologist. I went because my PCP thought I was having sun allergy problems, which to be honest, I’ve had sun issues all my life, and a few weird artificial light reactions. The Dr. who diagnosed me said that EPP was the hardest to diagnose because it doesn’t show on urine test and blood test often give false negatives. I am like you, after a few minutes of sun exposure, my skin is on fire. I have been sunburned, if I get sunburned, I have severe abdominal pain that fades usually within a day or so. Landed me in the ER a couple times and was dismissed as gall bladder spasms. Does EPP come with/cause abdominal pain? I have read other porphyria’s do. Have you ever had a local anesthetic, like numbing meds from a dentist, set it off? I’m dealing with that right now. I’m trying to learn about this as much as I can, most Dr’s give me funny looks when I tell them and don’t take it seriously.

    Liked by 1 person

    1. Anne,
      Thank you for your interest in my blog and your questions. I understand how it feels to not be taken seriously by doctors. I will try to answer your questions, but please be advised I am an electrician, not a doctor.
      Dr. Mathews-Roth, an EPP specialist who retired from Brigham and Women’s Hospital, suggested that people with EPP should not take any drugs containing Sulfa, or any drugs with the warning descriptive that says something like, “Could cause increased sensitivity to sunlight.” She believes that these drugs can inadvertently trigger an attack. I have always heeded her advice in regards to such drugs, so I cannot say that I have had a local anesthetic cause an EPP attack. She had reports of other EPP patients who had experienced what you describe. I believe that some dentist anesthesias contain Sulfa.
      Due to porphyrins overloading the liver, some people with EPP develop gall stones, which can cause abdominal pain, or even liver disease. It is not common, but that may be due to the fact that so many people with EPP are not sure what is wrong with them and so it is not documented as being common. (It is estimated that 1 in 75,000 to 1 in 200,000 people have EPP, but the amount of people documented as being diagnosed do not come close to that number.) I personally have not yet experienced abdominal pain due to an EPP attack.
      EPP is often hard to diagnose, your Doctor is correct; this is mainly because the medical community is so unfamiliar with it and confuse it with something else. There are several blood tests that are used to diagnosed EPP; one is called Free Protoporphyrin. One of the reasons that the blood work for this test comes back falsely negative so frequently is because the lab-workers that draw the blood fail to exactly follow the test procedures. I am not sure about the most recent exact test procedures, but I believe it must be drawn in an amber or opaque syringe, kept cool and away from sunlight, and delivered to the Mayo Clinic (the only clinic in the United States that performs the test) within 24 hours. Direct communication between you, your doctor, the lab-workers, and the Mayo Clinic is very important in performing this test. Although I was diagnosed at age 11, I wanted to have a more recent documentation in my adult life. I had a hematologist, despite explicit instructions from me and the Mayo Clinic, perform the test incorrectly 3 times, get rejected by the Mayo clinic 3 times, and charge me 3 times before I stopped seeing him. I recently had another hematologist perform the test and, thanks to communication with the Mayo clinic and some self-assertiveness on my part, the test was performed correctly and it came back as positive.
      It is possible for those with EPP to also experience reactions to artificial light. Glad lamps, tanning beds, and surgical lights are common perpetrators, but other artificial light can cause issues. Each person with EPP has a different level of sensitivity to light depending on the severity.
      Those with EPP should have a liver function test performed annually to ascertain the health of the liver. People with EPP should never drink or smoke, as this can cause undue strain on the liver; recreational alcohol has even been known to increase the frequency and severity of EPP attacks in some people, according to Dr. Mathews-Roth.
      I do not know if you have EPP or not, but I suggest that you find a trusted doctor who is willing to learn, be humble, do the necessary research, and take the plunge into a field that he/she has not been exposed to before. These are the most important traits in a doctor who has a patient with EPP.
      I repeat that communication with the Mayo Clinic is CRUCIAL when performing the diagnostic test(s). The Mayo clinic will give instructions that must be followed to the letter by the lab-workers. It may even be necessary for your doctor to call the Mayo clinic himself/herself in order to talk to someone familiar with the test, and then communicate directly with the blood lab to make clear that the lab-workers follow the instructions exactly.
      Thanks for your comment, and I hope that this information helps. I may try to put this information in several blog posts. I have been asked a lot of questions of friends and family, so it may be a while before I check this off the list.

      Like

  2. I was diagnosed with EPP when I was 5 years old and I have never read anything that describes it as accurately as you do. Your drive for a successful and fulfilled life is truly inspiring. Thank you for sharing your story, it is always comforting to know I am not alone in living with this crazy disease!

    Liked by 1 person

    1. Sarah,
      Thank you for the support and compliments, they are truly appreciated.
      It is good for me as well to know that I am not alone in experiencing this condition.
      Keep heart.
      Jason

      Like

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