National Porphyria Awareness Week

If you watch House (for some reason the writers of that show love porphyria) or if you’ve ever seen The Madness of Kind George, you’ll be familiar with the rare medical condition known as porphyria. But you’d be amazed by how many doctors in this country don’t know about it, or have only the fuzziest idea what it involves or how to deal with it. And that’s a problem, because a leading cause of death among porphyria carriers is doctors and the drugs they prescribe.

March 28-April 4 is National Porphyria Awareness Week, which attempts to raise awareness of porphyria among both the medical community and the population at large. Basically, porphyria is a metabolic disorder, usually hereditary, that interferes in the production of heme. Heme is best known for its presence in hemoglobin, but it’s also a necessary component in other things beside blood and the delivery of oxygen. There are actually eight different forms of porphyria, which differ from each other in significant ways. They’re all called “porphyria” because when certain enzymes involved in the production of heme don’t do their job, the precursors of heme—known as porphyrins—build up in the body. Although porphyrins are normally present in small amounts, when they build up they can cause big problems—the biggest of all being death.

Porphyria is challenging not only because it is deadly and rare, but because its symptoms are so elusive. It is possible for a person to live their entire life with porphyria and never know it. Then, out of the blue, something can happen to provoke a porphyria attack. What does a porphyria attack look like? Depending on the type of porphyria, it can include severe abdominal distress (think the worst kind of stomach flu), a skin rash that results from exposure to the sun, weakness, faintness, peripheral neuropathy, mental confusion, hallucinations, coma, and death.

What can provoke an attack? A low protein diet or fasting. Hormonal fluctuations (menstruation or pregnancy). A viral or bacterial infection. Stress. Chemical exposure (“chemicals” including everything from pesticides to over the counter drugs to chemotherapy).

Thanks to the madness of good ole King George, having porphyria is sometimes seen as something of a stigma. But the truth is, porphyria didn’t make George III crazy; what drove him mad was the arsenic his doctors gave him to treat his porphyria (clever guys, they were treating his attacks with a substance that just gave him more attacks; the man must have had the constitution of an ox to survive with even half his marbles). Yes, having a bad porphyria attack can make porphyria sufferers a little fuzzy for a week or so, but we—usually—come back.

And yes, I said we. I discovered I suffer from porphyria when doing the research for my first Sebastian book. Curious to know more about the disorder that affected the Hanovers, I Googled porphyria and found myself reading a list of the seemingly disparate symptoms that had plagued me since adolescence. This is an example of serendipity at its most precious, since the discovery helped me save the life of one of my daughters when she suffered a horrendous attack after Katrina and the area’s emergency rooms were unimaginable, indescribable nightmares.

So here’s to raising national awareness of porphyria. You can read more about porphyria, and what can be done to help increase awareness of this problem here.

Check it out. You or someone you love might have this condition and not know it.