NORD Archives - Digital Discovery

A man with an extremely rare condition known as Erythropoietic Protoporphyria (EPP) has shared his experience of living with this challenging disorder. EPP is described by the National Institution for Rare Diseases (NORD) as a "rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase." Symptoms and Impact Individuals with EPP experience severe pain when exposed to sunlight. According to NORD, symptoms can start with tingling, itching, and burning of the skin. Continued exposure leads to redness and swelling, particularly affecting the hands, arms, and face. The condition is so uncommon that as of 2009, its prevalence was estimated to be between one in 75,000 and one in every 200,000 people. Personal Account A Reddit user recently opened up about his life with EPP, inviting others to ask questions about the condition. He explained the daily challenges he faces: Sunlight Sensitivity: "If I am exposed to daylight in summer or direct sunlight in winter, I have about 2-3 minutes before I am in unbearable pain that lasts for around a week," he shared. During these painful episodes, he struggles to perform basic tasks such as dressing, eating, or even tolerating room lights. Coping Strategies: To manage his condition, he often wears a face covering and gloves to protect himself from sunlight. He also shops online and avoids going out during the day unless absolutely necessary. Limited Treatment Options One person asked about available treatments for EPP. The Reddit user mentioned a treatment called Scenesse, which could provide an additional 7 minutes of sunlight tolerance—an improvement that could be life-changing. However, this treatment is not accessible in England because the National Institute for Health and Care Excellence (NICE) does not fund it. Daily Life and Humor Despite the seriousness of his condition, the Redditor maintains a sense of humor. When someone joked about his potential nocturnal lifestyle, referencing Dracula, he responded lightheartedly, acknowledging that he might indeed be first in line for night shifts. Conclusion Living with EPP presents significant daily challenges, from managing severe pain to navigating a world designed for those without such extreme sensitivity to sunlight. The personal account shared by the Reddit user offers valuable insights into the reality of living with this rare 'vampire disease,' highlighting the importance of awareness and understanding of rare conditions.

Tags : NORD

Living with Ultra-Rare ‘Vampire Disease’: A Personal Account