Sufferers cope with rare disease

CINCINNATI -- The Rev. Richard L. Fisher holds many titles - doctor of theology, doctor of education, pastor emeritus of the Clifton Avenue Church of the Nazarene.

One title he would rather not hold - "Sir Richard the Great" - was given him by the American Porphyria Foundation. It's an unofficial title the foundation gives sufferers from porphyria.

Porphyria is a group of eight rare disorders, usually inherited and potentially fatal, caused when the body lacks enzymes that create heme, the oxygen-carrying part of hemoglobin in red blood cells.

The type that Fisher has, hereditary copropophyria, afflicts only one in a million people, he said.

It's sometimes called the royal disease because some historians believe King George III of England had it. His sufferings were dramatized in the 1995 movie "The Madness of King George."

The king had several symptoms in common with porphyria sufferers of today: severe abdominal pain, constipation, confusion, severe weakness in his limbs and dark reddish urine.

Porphyria sufferers often describe how doctors failed to diagnose them properly for years, or thought they were hypochondriacs, because they had never seen the disease before.

One doctor told sufferer JoAnne Lukey, 38, that her problem was either in her head or related to the stress of having two young children.

"It's terribly frustrating. You start to think, maybe it is all in your head," Lukey said. "As difficult as it's been to live with the disease, it was a total relief to finally know what was wrong with me."

Fisher knew he had a problem in 1986, when he started having severe abdominal pain.

"It's a horrific type of pain," he said. "I've had pain, but this kind of pain, there's no description."

One sufferer likened it to a thousand flaming swords imbedded deeply into her belly.

Another symptom hit Fisher about four years ago - a skin sensitivity that began as uncontrollable itching. Some sufferers blister or develop rashes if exposed to sunlight.

Orthopedic problems associated with the disease have made it difficult for him to walk.

Fisher can no longer visit the sick, or perform other pastoral care duties.

However, he considers himself blessed because he can still preach on Sundays from his wheelchair, and can still direct his staff. "They do what I can't do," he said.

Within the past year, Lukey has learned to manage the disease well enough to take a part-time job. She wants to get well enough to resume her career as a hospital X-ray technician.

She takes seizure medicine, exercises, gets plenty of rest to help avoid stress, stays out of the sun and avoids eating food with lots of preservatives in it.

Twelve years after her first diagnosis, she has learned she can live very well with the disease.

At Christ Hospital, Fisher found an effective treatment just a few minutes from his home.

Every month, for five consecutive days, he drives to the Medical Oncology Unit for an infusion of Hematin, which helps replace the heme his body lacks.

It took a special trial here to get the Food and Drug Administration to approve the drug's use.

© 2000 Scripps Howard News Service.

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