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Mystery Solved: 'Blue Faced' Appalachian Family Caused by Rare Medical Condition


Gives new meaning to 'blue blooded.'

The Daily Mail has posted a bizarre story about a family near the Blue Ridge Mountains that actually turned blue.

Here are the key elements of this mystery that persisted for decades:

  • Backwoods Kentucky family started producing blue-colored children sometime in the 1800s
  •  Four of seven children were blue and they intermarried with a nearby family
  • Intermarriage led to insular gene pool that allowed replication of rare gene

That right, some members of this family of Appalachian Mountain folks turned blue because of a rare medical condition.

The isolated eastern Kentucky family-- the Fugates--  can trace their roots back to a French orphan who began producing the blue children.

As described in the Mail:

 "It began when Martin Fugate, a French orphan, settled on the banks of eastern Kentucky's Troublesome Creek to claim a land grant in the early 19th century. He married a red-haired American named Elizabeth Smith - who had a very pale complexion - and their union formed a genetic mutation that resulted in their descendants being born with blue skin."

When you look at the portrait above, it appears to be a fake. Modern science, though, has an explanation, and it's something of a scientific wonder.

The blue-faced condition comes from a "Genetic mutation that reduces individual’s ability to carry oxygen in blood." The condition is called methemoglobinemia (generally referred to as met-H).

Think about the bluish veins visible in the wrist of of some people-- and now extend that principle to an entire body. As a result, the blood of people with this condition is darker and more blue-hued than the color usually found running through the human body.

Thanks to this physical oddity, the Fugates became true Appalachian blue bloods.

According to the Mail,  as a result of "a number of recessive recessive genes, intermarriage and inbreeding, members of the Fugate family were born with a rare condition that made them visibly discolored."

The mystery, it appears, has been solved after all these years.

Because the rural Kentucky area in which the Fugates lived offered few opportunities to expand the gene pool, intermarriage allowed the rare met-H gene to come into contact with other carriers much more frequently. 

 In 1958, the Fugate family was discovered when one of the blue men, Luke Combs, took his wife to the University of Kentucky Hospital. Luke was apparently much more interesting to the doctors than his wife was. 

Doctor Charles H. Behlen II said ‘Luke was just as blue as Lake Louise on a cool summer day,’  to the Tri-City Herald in 1974.

Other than the discoloration of skin, the Met-H condition poses no health risks or issues. There is even a cure of sorts for the condition that was discovered in 1980.

When a person who has turned blue from Met-H drinks a chemical-filled solution that is also blue, the Met-H carrier’s blood turns to a ‘normal’ red hue, which then is reflected in the coloration of the skin and facial complexion.

The solution only lasts for 24 hours at a time, so to stay rosy red, a Met-H carrier has to drink one glass of blue goo a day.

Today eastern Kentucky has a vastly larger population, and the condition has for all intents and purposes disappeared.

The recessive met-H gene continues on, however, unknown to its carriers and could perhaps one day result in another blue blood family somewhere else in the world. 

For more details on the history of the Fugate's and their rare condition, the Daily Mail has more here.

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