A Kentucky family became known for their blue skin after generations of relatives had children within the same bloodline.
This is not the West Virginia Whittaker family, who are often described as the ‘most inbred family in America’.
That family has been widely covered online because repeated inbreeding over many decades reportedly left a number of relatives with disabilities.
The case here instead involves the Fugates of Troublesome Creek, a remote part of Kentucky, where marriages between relatives continued for years after the family line began there in the early 1800s.
The story traces back to Appalachia and to the family’s founder, Martin Fugate, whose unusual appearance is believed to have started the line’s distinctive blue skin.
Martin Fugate, a French orphan, married Elizabeth Smith, and the pair are said to have had seven children.
According to the Mirror, Fugate had an exceptionally rare inherited condition that caused his skin to appear blue.
The disorder is known as methemoglobinemia. The Cleveland Clinic says it affects only a very small number of people worldwide, whether through inheritance or contamination.
“a rare blood disorder that affects hemoglobin, the protein that helps red blood cells deliver oxygen throughout your body.”
The clinic adds that it
“causes cyanosis, when your skin, lips, nailbeds and tongue turn light blue, purple or gray”
and may also lead to
“life-threatening complications”.
In Martin and Elizabeth’s family, four of their seven children were affected because the recessive gene had been passed on through their father.
The condition might have faded out of the family line had later generations not continued marrying within a small pool of relatives.
Because the community was so isolated, people often socialized and married among the same interconnected families, allowing the gene to keep resurfacing.
Anyone visiting the area at the time would likely have encountered the same surnames repeatedly, including Fugate, Smith, Combs, Ritchie and Stacy, because the families were so intertwined.
One example often cited is Zacharia, one of the seven children, who reportedly married his aunt.
Another family member married a cousin, and their daughter Luna Fugate was said to have had the deepest blue complexion of them all.
As the Daily Record notes, she was described as having
‘lips as dark as a bruise’.
During the 19th century, Luna married John Stacy and went on to have 13 children, continuing the genetic line. She lived to be 84 years old, remaining in good health despite her distinctive appearance.
Later, University of Kentucky hematologist Dr Madison Cawein became fascinated by the family, History Extra reports, especially because the condition appeared to affect their coloring more than their overall health.
In the 1960s, he located surviving members of the family and carried out blood tests to investigate further. He discovered the Fugate descendants carried between 10 and 20 percent methemoglobin in their blood, far higher than the less than 1 percent found in most people.
His findings suggested they lacked an important enzyme called cytochrome-b5 methemoglobin reductase, leading him to believe that methylene blue dye might counter the condition.
Remarkably, the treatment worked.
Although it sounds counterintuitive, the science involved is far more complicated than basic colour mixing. Methylene blue acts as an electron donor, bypassing the defective enzyme pathway and reducing methemoglobin levels.
Cawein discovered that injections of methylene blue could temporarily reduce the blue tint in their skin for several days, while daily methylene blue tablets appeared to offer a lasting fix. When he administered the treatment to siblings Patrick and Rachel Ritchie, their skin color shifted from blue to pink within minutes. Cawein’s findings were published in 1964 in the Archives of Internal Medicine, bringing national attention to the case.