So who wants to be enlightened about a crazy disease?My latest health story published today tells of an area woman who was diagnosed a couple years with a rare, genetic disease called porphyria.
The disease and her story is so rare and perplexing that we had a file sitting around in our office for years and no one even wanted to touch it until I came along …
Long story short: This woman was in her late 40s and had everything she could want in her life. A full-time job, she helped out at a local clothing store, assisted with beauty pageants and had her own makeup line. … But she soon developed an odd rash on her hands. When no doctor could decide what it was, one doctor ordered a porphyria test. The results came back, and the woman had a classic case.
“He said, ‘You have a classic case of porphyria’ and your initial reaction is ‘Yes! I know what it is!’” the woman told me. “And then on the other end it was like, ‘Shit! I don’t want it!’ … You can’t go outside, so it’s like, ‘I’m going to be living in a bubble.’”
Pretty much …Sometimes called “the vampire disease” because of patients’sensitivity to sunlight, porphyria is a rare, hereditary disease. King George III had it, as did Mary Queen of Scots, who passed it to her son, King James I. Some doctors believe Vincent Van Gogh might have had porphyria as well. … It develops during the production of heme, an important substance most common in blood and bone marrow. If any of the enzymes needed to produce heme are abnormal, porphyrins build up.
And the list of precautions this woman has to take are unreal …She can’t have anything with sugar, caffeine, chocolate and alcohol - anything with preservatives and added chemicals. Fast food is out; an organic diet is in. … beyond that, she lives in a darkened house because she must limit her exposure to sunlight, certain chemicals prevent her from doing such routine errands as going to a Home Depot for home improvement items or Officemax for ink toner. And when she travels, she has to pack her own towels and bedding because the chemicals hotels use to wash their linens might cause her to break into a rash. She’s also relegated herself to the lifestyle of a third-shift worker, often closing her shades and sleeping during the day.
It’s hard to even begin to imagine how she feels …
For more, go to the American Porphyria Foundation.
