Porphyria
 
 
Congenital Erythropoietic Porphyria (CEP) is one of eight types of porphyria and has affected, by most accounts, less than 200 people in the world over the course of recorded medical history. CEP is the result of a defective enzyme. It is autosomal recessive, which means that a person born with CEP inherited one recessive gene from each parent. The marriage of these genes causes an important enzyme on the heme biosynthesis pathway (the conveyor belt of producing blood, if you will) to disrupt the process of making hemoglobin. This enzyme does not allow the porphyrins, a natural chemical in every body, to adhere to the iron molecule necessary for heme and thus causes the porphyrins to accumulate in the body subcutaneously. These porphyrins hover just beneath the skin and absorb radiation from the sun’s rays, causing the skin to blister. In turn, the blisters become infected. The skin eventually heals, only to erupt again. The constant wound-heal-wound cycle causes the skin tissue to die as the nerve endings are mortally compromised. Thus CEP causes photosensitivity in its sufferers, the symptoms of which present themselves in the photomutilation of exposed skin.
What is porphyria?
Photo owned by
Dr. Arthur Huntley & Dr. Neville Pimstone
The photographs on this page were taken and are owned by Dr. Arthur Huntley and Dr. Neville Pimstone, Gene’s doctors at UC Davis, Medical Center. They were taken for the sole purpose of documenting and studying the devastating effects of Congenital Erythropoietic Porphyria (CEP). Some on the web, however, have found a need to use these photographs to sensationalize their blogs about vampires and porphyria. I have been able to contact some of the bloggers and have asked that the photographs be removed from their blogs. Some have complied, some have not. I have chosen to post these disturbing photos on this website so as to take ownership of them. Please understand that copying these photographs and posting them elsewhere without permission is no less than thievery. To request permission to use the photos please contact me at genewb@cds1.net. mailto:genewb@cds1.net?subject=porphyriashapeimage_3_link_0
Photos owned by
Dr. Arthur Huntley &
Dr. Neville Pimstone
In Gene’s case, the photomutilation was quite severe for two reasons. First, as a child he was the patient of curious doctors who used the five year old boy as the subject of experimental light treatments over a period of approximately two years, maybe longer. The second reason for the severity of Gene’s symptoms was Gene’s tenacity and free will. He was told by doctors that he must stay out of the sun, and that he would likely die by the age of 20. With such a death sentence looming over him, he decided to live life to the fullest even if it meant that his physical appearance and condition would suffer greatly. Because Gene’s fingers and face were exposed to the sun on a daily basis the constant wound and heal battle took its toll on the nerve endings in his fingers and face. The result of this damage caused his nerve endings, blood vessels, soft tissue, and bone to be resorbed into his body. Over imperceptible time his ears, nose, and lips disappeared. Likewise, the incessant wounding of his overexposed hands caused his fingers to slowly disappear; by the time he died only small rounded stubs finished his wrists. At 27, refusing to let his condition bring him down!