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Spokane, Washington  Est. May 19, 1883

Coping with porphyria: For Spokane woman, life-long illness finally has a name

Mischa Keeling has since childhood dealt with an inherited blood disorder some call the vampire disease or King George’s madness.

The Spokane Valley resident finally received a diagnosis about five years ago for porphyria, which has caused excruciating pain, red or purplish urine, skin reactions from the sun and other complications.

But Keeling, 50, avoids hospitals today. Previously, doctors missed symptoms or ordered wrong procedures, she said. She’s found support through the American Porphyria Foundation, which is promoting awareness about the disease this week.

“From my diagnosis, answers came,” Keeling said. “Like why my whole life I feel like I have a thousand jagged swords that are on fire stabbing in my gut, stomach and whole torso.

“I’m sick a lot. I go into sun, and my skin itches, and then I’ll blister. Some days, I feel worse than others. At least now I know what’s going on, and that was the biggest relief, to know I wasn’t crazy.”

Porphyria is a group of disorders resulting from a buildup of natural chemicals that produce porphyrin in the body. The Mayo Clinic says porphyrins are essential for the function of hemoglobin – a protein in red blood cells that links to porphyrin, binds iron, and carries oxygen to organs and tissues.

High levels of porphyrins can cause significant health issues, with variations in how it affects people. All forms of porphyria afflict fewer than 200,000 people in the U.S., says the foundation.

“It’s a rare disease; it’s extremely complex,” said Desiree Lyon, executive director of the American Porphyria Foundation who also has the disease.

“It’s genetic, and there are different types of porphyria. Some affect the central nervous system, some the skin, and some both the skin and nervous system, causing this pain that’s indescribable.”

In people with porphyria, there’s a malfunction in the body’s synthesis of a complex molecule called heme, essential for the transport of oxygen to cells in the body.

That malfunction allows intermediate chemicals known as the porphyrins or porphyrin precursors to accumulate, resulting in oxygen depletion.

Doctors often don’t recognize porphyria because of its rarity, and some mistakenly think that sufferers are drug-seeking hypochondriacs, Lyon said. They might send patients home without treatment because of inconclusive tests.

“You can’t diagnose it unless you have very specific porphyria tests when people come in,” she said. “One of the key points about porphyria is pain like you’re on fire from the inside out, so for the person who comes to an emergency room, they’re most often not believed.”

Keeling got tested for the disease after her brother was diagnosed. The two believe their mother also had porphyria. She was often sick, Keeling said, and died at age 52.

Keeling’s condition puzzled doctors since her childhood. Born with jaundice, she struggled with urinary issues and later with menstrual problems. Two pregnancies were difficult, and she had a hysterectomy at age 33.

“My first surgery was urethral dilatation; I was under age 5 … because my urine was dark red,” she said. “Throughout my life, I’ve had many exploratory surgeries.”

Sometimes, she said her urine was red, or “almost dark Coca-Cola color.”

“During these times where the urine was red, I was very sick and had a lot of pain in my abdomen, and at times I had what I call crazy brain,” Keeling added. “Crazy brain for me is when I feel almost manic, my heart races, and I can’t get a firm control on my words.”

Porphyria’s touch on history might be profound, Lyon said, because some historians believe King George III of England suffered from it based on notes from his physicians.

The king had abdominal pain, rashes, confusion and dark reddish urine. During attacks, he was described as often “mad.”

“Some historians think it affected history and the Revolutionary War, because with prophryia, it can cause you when you have an attack to have severe mental issues,” Lyon said. “You’re toxic, so you’re mentally off.”

Today, patients hospitalized during an acute attack can be given a drug called Panhematin, a concentrated form of heme. The drug corrects heme deficiency in the liver and helps stop the body from making more porphyrins.

Porphyria sufferers also might receive high doses of glucose during an acute attack.

Keeling tries to take better care of herself with diet and avoiding stress. She said she also uses marijuana as a medical remedy to ease symptoms, but otherwise tries not to take drugs. She’s learned about triggers to an attack, such as sun exposure and certain medications, like ones that contain sulfur.

“Imagine going to doctors and them saying the tests are fine, you’re great, put on sunscreen, don’t go into the sun,” she said. “I would exercise and did fitness competitions for years, and I would fast. I now know that’s a major no-no for the disease. Knowing things like that helps me stay healthier.”