When Martin Fugate immigrated to the United States from France approximately two hundred years ago, he was given a land grant. He settled in a remote area of Southeastern Kentucky known as Troublesome Creek. (Troublesome Creek watershed today is a part of Perry and Knott Counties, Kentucky.) There, Martin Fugate met and married a young lady named Elizabeth Smith. Their union resulted in four of their seven children having skin tones that were varying shades of blue
Unknown to either the parents or medical science, they were carriers of a recessive gene for a blood disease known as methemoglobinemia. They both had a rare condition in their genetic make-up, but they themselves were asymptomatic. For the condition to exist in a child, both parents had to be carriers of the gene.
The disease is relatively harmless and has no known adverse effects on those with it other than skin color. During the early 18th century, though, being “blue” was a rare condition, and many feared those whose skin was the previously unseen color. Others saw it as a racial issue. Rumors in the small community were that it had a racial aspect. Others thought the family was touched.
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For those with the affliction, the degree of blue on the skin varies from light blue to ocean and sky blue. Some only showed blue skin when the weather turned cold, in times of stress, and others when they took certain types of medicine. Still, others were blue only on their hands or fingernails. Whatever the case, rumors about those afflicted with blue skin were common.
Their blue skin had made them reluctant to venture outside of their area. One of the children of Martin and Elizabeth married (the stories varied depending on the source), either his sister or his aunt. This further perpetuated the recessive gene. As the saying goes, the tree didn’t branch far. In a 1982 newspaper interview, one person affected by the syndrome said, “We didn’t go to town. People think we look funny”. At the time of the article, only around 500 cases had been identified worldwide, most of which were in Appalachia. Some of the family names that are associated with methemoglobinemia are: of course, the Fugates, as well as the Combs, Ritchies, Smiths, and Stacys.
Intermarriage, or inbreeding, which was common in many of Appalachia’s remote communities, can and does result in some severe conditions. Blindness, a lack of sweat glands, and a poor immune system causing severe illness from a variety of other diseases can occur. While the skin of the folks from Troublesome Creek was indeed troublesome, they were an extremely healthy family, and many who exhibited blue skin lived long lives.
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When coal mining came to the area around 1912, it brought the railroad and exposure to a larger world. Many original settlers gradually began moving out of the area in the 1930s. As a result, some of those who carried the gene started finding their marriage partners outside the family. Others remained, and the unidentified condition was replicated.
The syndrome first became widely known to the larger world in 1958 when a man from Troublesome Creek, Luke Combs, took his wife to the University of Kentucky Hospital in Lexington, KY. for medical attention. All eyes, however, were on Combs and his blue skin. The hospital staff immediately began to research Luke’s condition.
Dr. Madison Cawein was an assistant professor of medicine in the University of Kentucky’s College of Medicine and had specialized in hematology at the University of Minnesota and the Mayo Clinic before joining the staff. He had heard about the Fugates and their offspring and came to Troublesome Creek in search of them. Blood testing and research finally revealed the disorder. Cawein’s study was published to much acclaim in 1964.
The carrier’s untreated blood was a chocolate brown color. A simple cure soon made their life more tolerable. The miracle cure was a commonly used dye called methylene blue. The victims’ skin turned a common color within a few minutes of taking the drug. A daily pill kept those afflicted with blue a typical white/pink.
