Circa 1996 – Medical researchers from three universities are combing the family’s DNA in a high-tech search for the cause of — and a possible cure for — the mysterious ailment that some in this slice of southern Pike County used to call “the Slone’s disease.”
Medically, it is known as hereditary pancreatitis, an inherited, incurable disorder in which the pancreas, instead of producing enzymes crucial to digestion, tries to digest itself, says Dr. Lawrence Gates, a gastroenterologist at the University of Kentucky and one of the investigators on the project.
Hereditary pancreatitis is caused by a mutation in a particular human gene, which is passed from parent to child. The gene has never been identified.
Gates and colleagues at the University of Pittsburgh and the University of Cincinnati hope to find that gene by studying members of the Rose, Puckett, Sweeney and Belcher families. These families are thought to be part of only 100 families in the world that carry the genetic mutation, and therefore are plagued by hereditary pancreatitis.
After a year of work, and tracing the families back through eight generations, the gene hunters might be closing in on their quarry. Last month, the Pittsburgh third of the research team announced it had narrowed the search for the pancreatitis gene to a tiny segment of chromosome seven (human cells contain 23 pairs of chromosomes).
Armed with that information, scientists can tell with 95 percent accuracy whether a person has inherited the pancreatitis gene, even if the person has no symptoms, says Pittsburgh’s Dr. David Whitcomb, chief investigator on the study.
Finding the gene itself would make it possible to predict pancreatitis even more accurately, and provide genetic counseling for these family members who might fear passing the gene to their children. In the long run it might lead to a cure.
The families, still somewhat surprised to find themselves the focus of a major scientific study, are keeping their fingers crossed.
“They tell us this research is mostly for the kids coming up, the ones who haven’t had symptoms yet,” said Bobby Slone, 49, who operates a sporting goods store in Elkhorn City. “I don’t know how that would affect our son, since his pancreas is already scarred. But maybe a treatment would keep him from having more attacks.”
Bobby’s son disease was not firmly diagnosed until he was examined at Cleveland Clinic in Ohio. “They started talking about hereditary pancreatitis, and we said, `What’s that?’ ”
At the clinic’s suggestion, Bobby began asking relatives if they had ever had serious stomach problems. He began a chart, tracing his own family tree. When he found someone who’d had stomach complaints, he underlined the name in green. Soon, green sprouted all over his homemade chart.
“When I saw that, I didn’t need any doctor to tell me it was hereditary,” Bobby said. “Every time I found somebody who’d had stomach trouble and traced them back, they were always related to a Slone. When I showed them the chart at Cleveland Clinic, they just couldn’t believe it.”
Cleveland Clinic had wanted to study the Slone family, but the plan fell through. Nothing happened until the winter of 1994, when their son Kevin checked into University of Kentucky Hospital to be treated for one of his periodic attacks.
And when the phone rang in Larry Gates’ office with word that a young Eastern Kentuckian named Slone was in the hospital with hereditary pancreatitis, he almost leaped out of his chair.
Gates and Pittsburgh’s Whitcomb, who were old friends, began organizing a study of the Slone family, with researchers from the University of Cincinnati joining in, aimed at pinpointing the pancreatitis gene.
As a first step, Bobby Slone arranged a family picnic on Memorial Day 1995 so researchers from the three universities could interview family members, take blood samples and run tests. At a follow-up picnic this Memorial Day, the scientists reported to the family on their progress.