Canadian Association for Porphyria

Jean-Baptiste's Story

 Seizing the Day-Even If It Is Raining!

Throwing a soccer ball into the goal has never been something easy to do for me. I am almost unable to catch a ball and throw it back, without clumsily dropping it. When I was a kid, I never really had the chance to go outside with some friends and to simulate a football tactic. I just couldn't.

I still remember the summers in the countryside. I constantly needed to go back home to compulsively wash my hands. I still remember, as an 8 year old boy, trying to explain to a young day camp monitor that I could not play with the rest of the group on the beach. I still remember the judging look on my high school gym teacher's face when I was trying to explain that I should preferably stay in the shade of the trees while the others were scoring points on the soccer pitch. I still remember the feeling of guilt after having cancelled a promising trip in Iceland because I was terrified by a never ending sunset. I still remember the comments of my brothers telling me that all this was in my head.

Last summer, I heard about a certain hematologic condition. I read a lot on the subject, which tried to convince me that what I had was not that serious. Eventually, I met an internist and told him my hypothesis. A few extremely precise and unusual blood tests later, I met him again last January. On that day, the human body specialist was accompanied by an internal medicine resident. He told her to take advantage of this interview because I would, in all likelihood, be her only case of that condition in her entire career.

My name is Jean-Baptiste Roberge. I am a 22 year old young man from Québec, Canada. I am studying medicine at McGill University in Montréal. In January, 2016, I was diagnosed with erythropoietic protoporphyria, an extremely rare genetic disease that explains the symptoms I have had since a very young child. Symptoms without any visible manifestations. Symptoms that only I can feel. Symptoms that everyone had already doubted were real, including my very self.

What are those symptoms? A severe skin pain accompanied by a burning, stinging, and tingling sensation as soon as my face, arms, or hands are exposed to sunlight. Since I have absolutely no physical findings visible to the naked eye, this cutaneous photosensitivity is extremely difficult to explain to others. The most difficult part is that if I slightly abuse the small tolerance to sunlight I have, this severe skin pain can carry on for multiple hours, nay several days. Moreover, nothing really helps: sunscreen, tinted glasses, or water in a pool have absolutely no protective effect on me.

Because of my erythropoietic protoporphyria, which consists of an inherited enzyme alteration in the heme biosynthetic pathway, I have an accumulation of protoporphyrins in my red blood cells. These proteins abnormally react to visible and ultraviolet light, entering an excited energy state that damages my skin tissue and my liver and making me prone to gallstones and liver failure. Unfortunately, there is no effective way of lowering my circulating protoporphyrin levels. Beta-carotene, cysteine, carcinogenic occlusive sunscreens, and narrow wavelength phototherapy have been tried. Of all possibilities, a drug named afamelanotide that acts to increase skin pigmentation by stimulating skin melanocytes has shown promise. Unfortunately, it is still under trials in Europe and United States and lack of awareness for this rare disease slows down the researches.

When I was a kid, I would have been so happy if at least one person could simply and fully understand me. Awareness for rare diseases such as erythropoietic protoporphyria could mean the world for people affected by them. Even if there is no cure available for my condition, I finally have a justification for my symptoms and a simple way to explain them to others without being judged in any way. As a future physician, I will do the very best I can to be aware of these rare and afflictive diseases.

Summers and their cruel sunbeams, winters and their sparkling snow: everything is against me. Everything? No. I have an ultimate compromise: avoiding the sunlight. Wearing long shirts, walking away from the sun, planning on which side of the car I should sit during long trips. Even resigning myself to never being very good at outdoor sports. Being different. Accepting this handicap. And still seizing the day, even if it is raining outside.

Permission to publish was obtained from: Jean-Baptiste Roberge, 2016

Medical Disclaimer

Care has been taken to ensure that the information on this website is accurate at the time of publication. This information is, however, intended for general guidance only and is not meant to substitute consultation from a recognized health professional. The Canadian Association for Porphyria/Association Canadienne de Porphyrie disclaims for itself and for the author of this information, all responsibility for any mis-statements or for consequences of actions taken by any person while acting on information contained herein. Physicians and patients must make their own decisions about therapy according to the individual circumstances of each case.

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