| posted on 2.22.2012 at 08:27 PM
ANOTHER 'White People Only' disease - The Fugates of Kentucky: Blue Skin Bluer than Lake Louise
Benjamin "Benjy" Stacy so frightened maternity doctors with the color of his skin -- "as Blue as Lake Louise" -- that he was rushed just hours
after his birth in 1975 to University of Kentucky Medical Center. As a transfusion was being readied, the baby's grandmother suggested to doctors
that he looked like the "blue Fugates of Troublesome Creek." Relatives described the boy's great-grandmother Luna Fugate as "blue all over," and
"the bluest woman I ever saw."
In an unusual story that involves both genetics and geography, an entire family from isolated Appalachia was tinged blue. Their ancestral line began
six generations earlier with a French orphan, Martin Fugate, who settled in Eastern Kentucky. Doctors don't see much of the rare blood disorder
today, because mountain people have dispersed and the family gene pool is much more diverse. But the Fugates' story still offers a window into a
medical mystery that was solved through modern genetics and the sleuth-like energy of Dr. Madison Cawein III, a hematologist at the University of
Kentucky's Lexington Medical Clinic. Cawein died in 1985, but his family charts and blood samples led to a sharper understanding of the recessive
diseases that only surface if both parents carry a defective gene.
The most detailed account, "Blue People of Troublesome Creek," was published in 1982 by the University of Indiana's Cathy Trost,
who described Benjy's skin as "almost purple."
The Fugate progeny had a genetic condition called methemoglobinemia, which was passed down through a recessive gene and blossomed through
"It's a fascinating story," said Dr. Ayalew Tefferi, a hematologist from Minnesota's Mayo Clinic. "It also exemplifies the intersection between
disease and society, and the danger of misinformation and stigmatization."
Methemoglobinemia is a blood disorder in which an abnormal amount of methemoglobin -- a form of hemoglobin -- is produced, according to the National
Institutes for Health. Hemoglobin is responsible for distributing oxygen to the body and without oxygen, the heart, brain and muscles can die.
In methemoglobinemia, the hemoglobin is unable to carry oxygen and it also makes it difficult for unaffected hemoglobin to release oxygen effectively
to body tissues. Patients' lips are purple, the skin looks blue and the blood is "chocolate colored" because it is not oxygenated, according to
"You almost never see a patient with it today," he said. "It's a disease that one learns about in medical school and it is infrequent enough to be
on every exam in hematology."
The disorder can be inherited, as was the case with the Fugate family, or caused by exposure to certain drugs and chemicals such as anesthetic drugs
like benzocaine and xylocaine. The carcinogen benzene and nitrites used as meat additives can also be culprits, as well as certain antibiotics,
including dapsone and chloroquine. The genetic form of methemoglobinemia is caused by one of several genetic defects, according to Tefferi. The
Fugates probably had a deficiency in the enzyme called cytochrome-b5 methemoglobin reductase, which is responsible for recessive congenital
Normally, people have less than about 1 percent of methemoglobin, a type of hemoglobin that is altered by being oxidized so is useless in carrying
oxygen in the blood. When those levels rise to greater than 20 percent, heart abnormalities and seizures and even death can occur. But at levels of
between 10 and 20 percent a person can develop blue skin without any other symptoms. Most of blue Fugates never suffered any health effects and lived
into their 80s and 90s.
"If you are between 1 percent and 10 percent, no one knows you have an abnormal level and this might be the case in a lot of unsuspecting patients,"
Many other recessive gene diseases, such as sickle cell anemia, Tay Sachs and cystic fibrosis can be lethal, he said. "If I carry a bad recessive
gene with a rare abnormality and married, the child probably wouldn't be sick, because it's very rare to meet another person with the [same] bad
gene and the most frequent cause therefore is in-breeding," Tefferi said.
Such was the case with the Fugates. Martin Fugate came to Troublesome Creek from France in 1820 and family folklore says he was blue. He married
Elizabeth Smith, who also carried the recessive gene. Of their seven children, four were reported to be blue. There were no railroads and few roads
outside the region, so the community remained small and isolated. The Fugates married other Fugate cousins and families who lived nearby, with names
like Combs, Smith, Ritchie and Stacy. Benjy's father, Alva Stacy showed Trost his family tree and remarked, "If you'll notice -- I'm kin to
myself," according to Trost.
One of Martin and Elizabeth Fugate's blue boys, Zachariah, married his mother's sister. One of their sons, Levy, married a Ritchie girl and had
eight children, one of them Luna. Luna married John E. Stacy and they had 13 children. Benjy descended from the Stacy line.
Modern Fugates Still in Kentucky
ABCNews.com was unable to determine if Benjamin Stacy is still alive -- he would be 37 today. Trost writes that he eventually lost the blue tint to
his skin, but as a child his lips and fingernails still got blue when he was angry or cold. His mother Hilda Stacy, who is 56, appears to still live
in Hazard, Ky., but did not answer calls to her home. Other relatives are scattered throughout Virginia and Arkansas.
Most of what scientists know about the family was discovered by Cawein, the grandson of Kentucky's poet laureate, who had done pioneering research on
L-dopa as a treatment for Parkinson's disease. Later in 1965 he was famous for another reason. His wife was murdered by chemical poisoning, but no
one was ever indicted. Cawein heard rumors about the Fugates while working at his Lexington clinic and set off "tromping around the hills looking for
blue people," according to Trost's account. At an American Heart Association clinic in the town of Hazard, Cawein found a nurse, Ruth Pendergrass,
and she was willing to assist. She remembered a dark blue woman who had come to the county health department on a frigid afternoon seeking a blood
"Her face and her fingernails were almost indigo blue," she told Trost. "It like scared me to death. She looked like she was having a heart attack.
I just knew that patient was going to die right there in the health department, but she wasn't a'tall alarmed. She told me that her family was the
blue Combses who lived up on Ball Creek. She was a sister to one of the Fugate women."
More families were found -- Luke Combs, and Patrick and Rachel Ritchie, who were "bluer'n hell" and embarrassed by their skin color. Cawein and
Pendergrass began to ask questions -- "Do you have any relatives who are blue?" -- and mapped a family tree and took blood samples.
The doctor suspected methemoglobinemia and uncovered a 1960 report in the Journal of Clinical Investigation. Dr. E. M. Scott, who worked in public
health at the Arctic Research Center in Anchorage, had seen a recessive genetic trait among Alaskans that turned their skin blue. That suggested an
inbred line that had been passed from generation to generation. To get the disorder, a person would have to inherit two genes -- one from each parent.
When both parents have the trait, their children have a 25 percent chance of getting the disorder.
Scott speculated these people lacked the enzyme diaphorase in their red blood cells. Normally diaphorase converts methemoglobin back to hemoglobin.
All of the blue Fugates he tested had the enzyme deficiency, just like the Alaskans Scott had observed. Their blood had accumulated so much of the
blue molecule that it over-powered the red hemoglobin that normally turns skin pink in most Caucasians. The bluest of the bunch was
Luna, and she lived a healthy life, bearing 13 children before she died at the age of 84. As coal mining arrived in Kentucky in 1912 and the
Fugates moved outside of Troublesome Creek, the blue people began to disappear.
Doctors say Benjy likely carried only one gene for methemoglobinemia, because he eventually had normal skin tones, and the likelihood of him marrying
a woman with the same recessive gene would have been small. By the time reports appeared in the media on the disorder, the Stacy family was upset with
insinuations about in-breeding that fed into stereotypes of backwoods Appalachia.
"There was a pain not seen in lab tests," wrote Trost. "That was the pain of being blue in a world that is mostly shades of white to black."
| posted on 2.27.2012 at 10:59 PM
Do not EVER believe the about black people having "more"
diseases/conditions than anybody else! This is just one MORE example (how about Tay Sachs, that "Lorenzo's Oil" disease, etc. that NO blacks -
unless it came through the "white" side - get. Diseases you've never even heard of).... one more example of another disease/condition
ONLY white people have/get. African peoples are the most genetically CLEAN (of disease) people in the world.
Oh, and if you're thinking Sickle Cell? Guess what? Sickle cell was developed by blacks to ward off malaria! Turns out that people in Africa
who lived in malaria-plagued areas who didn't have Sickle Cell..... died from those mosquito bites! People with Sickle Cell? Some of
us are their descendants (in other words, they lived when everyone else who got bit, keeled over and croaked, i.e., we ain't skeered o' no
And..... every disease/condition black people get - hypertension, heart trouble, etc. - white people get them, too. We, however, don't get all their
diseases, or rather inherit them. And they have hundreds, maybe thousands, of genetic messups that are limited to maybe 100 white people in
some mountain village in Europe, whatever. That's hundreds, thousands of groups of 100, okay?
| posted on 10.11.2016 at 01:17 PM
This is darn interesting. Blue people.