The story of an Appalachian malady, an inquisitive doctor, and a paradoxical cure.
by Cathy Trost
©Science 82, November, 1982
Six generations after a French orphan named Martin Fugate settled on the banks of eastern Kentucky's Troublesome Creek with his redheaded American bride, his great-great-great great grandson was born in a modern hospital not far from where the creek still runs.
The boy inherited his father's lankiness and his mother's slightly nasal way of speaking.
What he got from Martin Fugate was dark blue skin. "It was almost purple," his father recalls.
Doctors were so astonished by the color of Benjy Stacy's skin that they raced him by ambulance from the maternity ward in the hospital near Hazard to a medical clinic in Lexington. Two days of tests produced no explanation for skin the color of a bruised plum.
A transfusion was being prepared when Benjy's grandmother spoke up. "Have you ever heard of the blue Fugates of Troublesome Creek?" she asked the doctors.
"My grandmother Luna on my dad's side was a blue Fugate. It was real bad in her," Alva Stacy, the boy's father, explained. "The doctors finally came to the conclusion that Benjy's color was due to blood inherited from generations back."
Benjy lost his blue tint within a few weeks, and now he is about as normal looking a seven-year-old boy as you could hope to find. His lips and fingernails still turn a shade of purple-blue when he gets cold or angry a quirk that so intrigued medical students after Benjy's birth that they would crowd around the baby and try to make him cry. "Benjy was a pretty big item in the hospital," his mother says with a grin.
Dark blue lips and fingernails are the only traces of Martin Fugate's legacy left in the boy; that, and the recessive gene that has shaded many of the Fugates and their kin blue for the past 162 years.
They're known simply as the "blue people" in the hills and hollows around Troublesome and Ball Creeks. Most lived to their 80s and 90s without serious illness associated with the skin discoloration. For some, though, there was a pain not seen in lab tests. That was the pain of being blue in a world that is mostly shades of white to black.
There was always speculation in the hollows about what made the blue people blue: heart disease, a lung disorder, the possibility proposed by one old-timer that "their blood is just a little closer to their skin." But no one knew for sure, and doctors rarely paid visits to the remote creekside settlements where most of the "blue Fugates" lived until well into the 1950s. By the time a young hematologist from the University of Kentucky came down to Troublesome Creek in the 1960s to cure the blue people, Martin Fugate's descendants had multiplied their recessive genes all over the Cumberland Plateau.
Madison Cawein began hearing rumors about the blue people when he went to work at the University of Kentucky's Lexington medical clinic in 1960. "I'm a hematologist, so something like that perks up my ears," Cawein says, sipping on whiskey sours and letting his mind slip back to the summer he spent "tromping around the hills looking for blue people."
Cawein is no stranger to eccentricities of the body. He helped isolate an antidote for cholera, and he did some of the early work on L-dopa, the drug for Parkinson's disease. But his first love, which he developed as an Army medical technician in World War II, was hematology. "Blood cells always looked so beautiful to me," he says.
Cawein would drive back and forth between Lexington and Hazard an eight-hour ordeal before the tollway was built and scour the hills looking for the blue people he'd heard rumors about. The American Heart Association had a clinic in Hazard, and it was there that Cawein met "a great big nurse" who offered to help.
Her name was Ruth Pendergrass, and she had been trying to stir up medical interest in the blue people ever since a dark blue woman