Elizabeth Greely and Pam Bernaki joke about vampires, the mythical creatures that have been linked to the debilitating disease that afflicts them both.
But they are adamant about dispelling the connection.
"I was devastated for six months after reading an article saying that porphyria victims were vampires," said Bernaki, who must avoid sunlight because it causes her skin to blister and often leaves permanent scars.
"To put that kind of story in the paper connecting vampires to porphyria is so awful and totally wrong."
Bernaki, 32, has extensive scarring over her face, arms and hands because of her sun-sensitive condition, known as congenital porphyria. She also has lost parts of her fingers to the disease, which she has had since birth.
Stress, Diet Bring Symptoms
Greely, 33, has acute intermittent porphyria, a different form of the disease which surfaces only occasionally. The bouts of pain and nausea symptomatic of her disorder are brought on by stress, dietary changes and various medications.
Bernaki and Greely, both San Francisco residents, attended a two-day meeting of the National Commission on Orphan Diseases that ended here recently to describe the tragedy of porphyria and the need for more research on the disease.
Greely, who is the editor of the Presidio Army base newspaper and a local advocate for porphyria victims, said she asked Dr. D. Montgomery Bissell, a porphyria specialist, to testify at the meeting about the seriousness of the disease.
"I wanted people to know that porphyria has nothing to do with vampires," she said.
Bissell disputed the highly publicized theory of Dr. David Dolphin of the University of British Columbia that the vampire myth was based on porphyria victims from the Middle Ages.
'Really a Ridiculous Idea'
"It's really a ridiculous idea and it's a stigma to the people with the disease," said Bissell, a research scientist and professor of medicine at the University of California, San Francisco.
"It's a strange phenomenon because Dolphin is a chemist without any medical background. It's rather amazing to me that he launched this whole idea," Bissell said.
"With porphyria, there's no craving of blood. In fact, we've tried to give heme (the blood derivative used to treat some victims) by mouth and it doesn't work because it never makes it to the bloodstream.
"The most severe form of the disease doesn't have the typical characteristics of a vampire--victims have pain, but no sun-sensitivity."
Bissell said about 25% of the patients he has seen get some relief by eating large amounts of carbohydrates.
For the other 75%, he said, injections of heme can be helpful. Bissell said he spends most of his time studying the effect of heme injections on porphyria patients.
There are no firm estimates of the number of porphyria victims, he added, because of the variety of types of porphyria and the number of people who have the disease but are not diagnosed correctly.
Porphyria is genetically transferred and can be activated in a number of ways, including sleeping pills and changes in diet, said Bissell.
"There also are certain changes around puberty that cause the disease to activate," he reported. "Attacks are more common in women than men."
The most common type of porphyria, and the least debilitating, causes rashes on the backs of the hands. "Every dermatologist has about 40 of these patients," Bissell said.
But other forms of the disease are less common.
Greely, who is the only person she knows with her strain of the disease in San Francisco, said she discovered she had the disease at 30 after she experienced an attack of acute abdominal pain and later lapsed into a coma.
She thinks the disease was activated because, after years of being what she called "a cola addict," she suddenly decided to stop drinking cola.
'People Just Don't Understand'
During the committee hearing, Bernaki, who often wears long gloves to hide the scars on her hands and arms, said, "People just don't understand what I go through.
"People look at you like you've got something contagious. I stay inside on a sunny day and on a foggy day and I can't even ride in a car without filtering out the ultraviolet light."
Bernaki told the committee she is not able to get insurance coverage for the things she needs to cope with the disease, such as activated charcoal, which she plans to begin taking internally to reduce her skin's sensitivity to sunlight.
Her insurance also does not cover the cost of the tinting tape she must put on the windows of her house and car to block ultraviolet rays.
Still, Bernaki maintains a sense of humor. As she left the meeting room, she expressed relief at getting away and said, "I'm starving, and if I don't get lunch soon I'm going to turn into a vampire."