Australian man with an unbearable genetic disease - Erythropoietic Protoporphyria (EPP)

Adrian was diagnosed with the genetic disease Erythropoietic Protoporphyria (EPP) when he was 5. Exposure to light causes him excruciating pain. He has absolute light intolerance.

EPP is characterised by the accumulation of toxic compounds in the body of patients. Exposing an EPP patients skin to light, particularly blue light, causes excruciating pain, an intense burning, stinging heat. Adrian describes EPP as similar to having badly sunburnt skin scrubbed with a wire brush. Swelling and blistering can also form after extended sun exposure. Even artificial lights, such as those in supermarkets and laptop screens can cause acute pain.

EPP is a lifelong disorder presenting in early childhood. The onset of the disease is traumatic for both children and parents.

Sun avoidance is the mainstay of treatment for EPP patients who are often forced to remain indoors, severely affecting their quality of life. Eventually a nocturnal existence is the only way of life for many porphyria patients.

Currently, there is no proven effective treatment or prevention method for EPP.

View this video with German subtitles:
vimeo.com/32968114

View this video with Hebrew subtitles:
vimeo.com/32976887

For more information on EPP visit:
clinuvel.com/en/erythropoietic-protoporphyria