Doctor’s departure has porphyria patients feeling worried

Imagine having a rare and sometimes fatal disease that causes crushing pain.

Now imagine the disease is hard to detect through standard tests, making medical professionals think you’re lying or crazy. And, once it is diagnosed, very little can be done to treat it.

Now, think of the relief you’d feel when you finally find a doctor who takes your symptoms seriously. And think how terrifying it would be if that doctor moves away.

That’s what is happening to a small group of patients in Spokane suffering from the blood disorder porphyria.

“Dr. Anthony leaving is huge to us,” says porphyria patient Deb True, a 36-year-old Spokane mother of two. “It’s scary.”

True is referring to Dr. Steve Anthony, a hematologist and oncologist with Cancer Care Northwest. Anthony, who has practiced in Spokane for eight years, starts a new job in Arizona on Aug. 1. He’ll be researching cancer drugs.

Anthony knows how concerned his patients are about his departure, but he hopes to find another doctor in his office to take care of the half-dozen porphyria patients.

“That’s the hard thing,” he says. “These people need a ton of attention.

“This disease is as crippling as any other disease we take care of.”

Porphyria is a complex disease, with many variations and levels of severity. People with the disorder are deficient in a specific enzyme necessary to make “heme,” part of red blood cells.

“Each enzyme is a rock on a waterfall,” Anthony says. “If you lack an enzyme near the middle of the chain, it creates a dam and water backs up.

“When that happens, all the stuff that’s behind the dam … directly attacks the autonomic nervous system.”

Those things “behind the dam” are called porphyrins. Flooding the body with them can affect breathing, heart rate and intestinal function.

Porphyrins can get into the brain and cause seizures, hallucinations and psychosis. They can damage the nerves, causing searing pain.

“The agony is beyond having a baby. It’s beyond shingles. It’s beyond anything,” says Desiree Lyon, executive director of the Houston-based American Porphyria Foundation, who also has the disease. “It’s known as one of the most painful diseases known to man.”

Some people will have one or two attacks in a lifetime and be otherwise healthy.

Others, Anthony says, “will have attack after attack after attack, sometimes ending in death.”

Connye Miller, the former editor and co-publisher of Spokane alternative weekly The Local Planet, died in 2003 at the age of 37 after suffering from porphyria for years. But it wasn’t until about a year before her death that Miller was finally diagnosed, says her husband, Matt Spaur.

“By the end of the year, she was just pretty much bedridden,” Spaur says. “It was a total mystery what was going on.”

No one knows exactly what caused Miller’s death. An autopsy was never performed. But her death was almost certainly related to the blood disorder, Spaur says.

“Just one day about three years ago she got out of bed and just collapsed,” he says.

True worries that one day could be her fate.

She started having severe upper abdominal pain in 1991. She even had her gallbladder removed, but the pain eventually returned.

By 1997, she was having numbness in her legs. She started having memory loss.

She went through countless tests and even suffered a perforated bowel during one of them. The pain was constant and left her bedridden.

“You get to the point where you hope some test would show something,” True says.

After more than six years of looking for answers, True discovered Anthony in 2003. A 24-hour test of her urine showed high levels of porphyrins.

“I can’t even explain the relief,” she says. “You have somebody who is just so comforting and willing to just take care of all of our needs.”

There’s little that can be done to treat porphyria, short of managing the symptoms. But during an attack, patients are hospitalized and 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 often receive high doses of glucose during an acute attack.

True has spent much time in the hospital. And even when she’s not there, she can barely function, she says.

Her mom comes in every day to get the kids ready for school. Some days, she stays in bed all day.

“Life is daily pain,” she says. “Life is a daily struggle.”

Doctors are reluctant to take on porphyria patients because the disease is so complex and takes so much time to manage, Anthony says. But he is confident other Spokane doctors will step up to care for them.

“There is enough community expertise to take care of these patients,” he says.

For now, though, True isn’t sure what will happen to her and other porphyria sufferers.

She has even considered moving to Arizona to be near Anthony. And porphyria patients are thinking about trying to recruit a doctor to Spokane who knows about the disease or is willing to learn.

“It’s really up in the air,” she says. “We’re going to take an active role.”