Ailment Is Peculiar to a Single Family : Muscle Disease Intrigues Medical Researchers

When he has the strength, Ronnie Billings drives the looping, narrow mountain roads of West Virginia in a red pickup truck, searching for distant relatives. Family ties have taken on new importance for an Appalachian clan beset with a mysterious, deadly disease.

Their muscles fall apart in attacks that come without warning, and the tissue debris pollutes the blood, clogs the kidneys and can cause fatal renal failure.

It is a new disease, doctors say. The cause is unknown and there is no known cure. Only the Billings family has it, as far as anyone knows. “It is an awful disease,” said Ronnie Billings, 37.

He mined coal until two years ago, when a nagging muscle ache one day made him think he had the flu. The pain became more intense that night.

The next day, he was in the hospital, fighting for his life as the dead muscle cells choked his kidneys.

Billings recovered, but it takes very little now to bring on another attack. In February, he threw a few snowballs and his muscles started to fall apart again like a row of collapsing dominoes.

Inactivity Causes Attack

“Sometimes sitting around will start an attack,” said one of the family’s doctors.

Billings discusses the ailment anxiously but openly:

“They’ve never seen anything like it. They call it auto-destruction of the muscles. A man’s ‘fraid to get out anymore with a thing like that.

“This sitting around watching the TV is driving me crazy.”

The disease is hereditary, and Billings is trying desperately to trace his uncharted family tree and warn relatives. Doctors want to find more family members so they can test a larger gene pool and identify the commonalities.

Unlike other known muscle diseases with similar symptoms, this one is inherited in a dominant fashion. A recessive disease is inherited only when a child receives defective genes from both parents. A dominant defect, on the other hand, is inherited when just one parent carries the gene. With the Billings disease, all members of the family are at risk.

Several grandparents and great-grandparents and their siblings died years ago of what was then diagnosed as simple kidney failure.

Billings’ mother and an aunt have the disease. A cousin, Romey Cox, died at age 30. “He just swelled up and busted,” Billings said.

Four Children Afflicted

Of his mother’s eight children, three others--two brothers and a sister--have the malady.

Billings is thankful that he has no children, but his nieces and nephews already have shown signs of the disease.

The symptoms seem to strike each generation at a younger age. Billings’ aunt developed the sickness as an adult; he suffered his first attacks at puberty. His nephew, a toddler, already shows signs of it.

There is no hope of escaping the sickness yet, but there is hope for living with the painful attacks, which can last hours or days.

Once Billings survives the onslaught against his kidneys, his muscle tissue stabilizes and regenerates.

He appears the picture of health as he climbs out of his truck in blue jeans, work shirt and fishing cap. He is out searching for cousins on the McDowell County side of the family.

Huge Medical Expenses

Billings is tracking his relatives by road. He has no telephone. Social Security refused him disability pay until Sen. John D. (Jay) Rockefeller intervened, but the medical bills are still more than he can handle.

Dr. Helene Emsellem acknowledges that the malady is a nightmare for the family, but explains that it is a dream case for medical researchers.

“It is the fantasy of every physician to discover a new disease, to try to find a cause and try to treat it,” said Emsellem, an associate professor of neurology at George Washington University in Washington.

“It is very unusual to find new diseases. Usually, you have to go to isolated populations--tribes and small groups with limited contact with other societies,” she said. “This is incredibly exciting.”

Emsellem and Dr. Salvatore DiMauro, a muscle tissue specialist at Columbia University, will present the case to the American Academy of Neurology in New York this month for review and discussion. The fact that the academy has accepted the case for discussion signifies its importance.

The Muscular Dystrophy Assn. is backing DiMauro’s work. Dr. Donald Wood, director of research for the organization, said a cure for the Billings disease could have benefits far beyond helping one West Virginia family.

Benefits of Research

“Even if only one family has this disease, research on it may actually provide enormous insight into other diseases,” Wood said.

DiMauro has already discovered causes for several muscle diseases similar to the Billings family’s. With that, Wood said, “We’re now seeing an enormous contribution on how living things grow and develop.”

DiMauro, who is concerned with what happens on the molecular level, said that Billings appears to suffer from a metabolic myopathy--a breakdown in the energy process of the muscle cells. When nourishment is cut off, the muscle fibers collapse.

There are six known types of metabolic myopathies. DiMauro said that the Billings disease represents a seventh form.

Emsellem sees a different twist. “What makes this a truly new disease is that the attacks are spontaneous,” she said. “He can do nothing and precipitate a spell.”

Other myopathies, or muscle breakdowns, Wood explained, can be triggered by strenuous workouts or use of anesthetics. And, in the more common types of muscular dystrophy, muscle tissue wastes away and is not rebuilt.

Attacks in Childhood

Billings and his siblings grew up with the disease, though they did not recognize it. They would get muscle aches and, within hours, their urine would turn dark (from myoglobin, the protein that makes muscle tissue red).

“Your water turns as black as Coca-Cola,” Billings said.

Billings’ father, applying the Appalachian sense for home cures, devised his own remedy.

“He would send them out to drink a whole bunch of beer when their urine turned dark,” Emsellem said.

The beer washed out the kidneys and put the patient to rest, and the spells would clear, Emsellem said. The current hospital treatment is similar: bed rest and flushing of the kidneys.

The specialists have subjected Billings to batteries of tests, but have found nothing, yet, to control the family disease.

“We’re not left with a whole lot of advice,” Emsellem said.