What is inbreeding? Does it really happen? Are the people weird or “different”? Do they look funny? Inbreeding does happen, and it is commonly associated with “mountain people” or those from the Appalachian region. Inbreeding can be defined as the reproduction from the mating of two genetically related parents, for example, brother and sister, two cousins, or parent and child. The children can be born extremely healthy, but it can also lead to major health problems, mental defects, and physical flaws. These health problems are the result of recessive genes being passed down through the family, since so many members would carry that recessive gene it is easily passed along. These genes can often lead to major health problems or physical abnormalities in the child.
Typically, inbreeding is associated with the mountain people of eastern Kentucky, and is understandably frowned upon by many people. “Inbreeding is unacceptable. It causes many mutations and that is harmful to the kids and doesn’t give them the full right to a healthy life,” says Madison Merryman, a student at the University of Kentucky. Stereotypes do not always hold true, but there are families that originated in the eastern Kentucky region through inbreeding. In Eastern Kentucky, there are mountains, dirt roads, and family, that’s about it; there are not places they can “go out” and meet other people, they know their family and maybe one or two other families. These families live in family groups, where the entire family lives in one area, typically within a hollow or holler in the mountain. Inbreeding occurs in these hollers since there is little access in and out. There could be one to three family groups in a holler, but typically they are related in some aspect (such as cousins). The best known inbred family in Eastern Kentucky is the Fugate family, also known as the Kentucky Smurf Family, who lived among the Combses, Smiths, Ritchies, and Stacys, all kin to one another.
French orphan Martin Fugate traveled to the United States in the early 1800s to obtain a land grant and improve his life. He didn’t want to stay in France since he felt like an outsider and was never adopted as a child. He later settled in Troublesome Creek with his red headed American bride, Elizabeth Smith. The two settled and had seven children, all of whom inherited Martin and Elizabeth’s rare recessive gene. Four of the children visibly showed this gene with their blue skin. Martin himself had dark blue skin
, “’It was almost purple,’ his [son] recalls.” (Trost) The gene was continued to be passed down through the generations, although few children showed it. The fact that this occurred at all was astonishing, it has to mean that Elizabeth also carried this extremely rare gene, which would give her the same blue tint. It was never proven that Martin and Elizabeth were blue since there was no photographic evidence. The only photos taken of the couple, and later family, were in black and white. As seen above, there have been several paintings done, but they are not reliable since they could have been fabricated.
Levi Fugate married his first cousin, Hannah, a member of the Ritchie family, and the couple had eight children together, including Luna. Luna was born blue like her great grandfather Martin. She was the first to show this gene in several years and the only one out of her brothers and sisters. Her nieces and nephews were born years later, many of them blue, because the Fugates had no way out of Troublesome Creek. “The railways were not laid until the 1912’s and roads to the hollows weren’t built until thirty or forty years later,” stated Cathy Trost in the article “Blue People of Kentucky”. Often times travel was too difficult by car or truck, but also by horseback, so these families truly had no other option but to remain in the holler and marry cousins.
By the time Luna Fugate was born, there had been progress made in her holler and the roads were travelable. After she reached adulthood, Luna was able to find a man that was not part of her family tree, breaking the gene pool, or so they thought. The Fugates had been blue for nearly 162 years, and people did not think a lot of it since there has always been at least one blue member in the family. They lived normal lives, “[m]ost lived to their 80s and 90s without serious illness associated with the skin discoloration.” (Trost) Doctors rarely paid visits to the hills, hollers and hollows, so there was not a real reason given for their blueness, there were different theories, including “heart disease, lung disorder, or ‘their blood is too close to their skin,’” (Trost) but it was never proven or tested.
The blue tint of the Fugates was nearly forgotten about until 1982, when Benjamin Stacy, better known as Benjy, was born. Benjy was raced from Hazard to Lexington right after his birth, two days of tests were run, and there was no explanation for the “bruised” appearance of the child’s skin. Hematologists from all over the state came to see the baby
and take a guess at what was wrong with him. The doctors were preparing a blood transfusion for Benjy when his
father spoke up, mentioning Luna, Benjy’s great grandmother. What they did find strange though, is the fact that the blue left that babies skin after a few weeks in the hospital. The only time Benjy’s skin appeared blue was when he was crying, and often times, doctors could be seen trying to make the child cry. Doctors concluded that the blue color of the baby’s skin was the result of a generic disorder from years past, known as methemoglobinemia.
The test results came back, and it turns out Rachel, Patrick, and Benjy all suffer from methemglobinemia, inherited through a recessive gene passed on through inbreeding. “Methemoglobinemia is a blood disorder in which an abnormal amount of methemoglobin — a form of hemoglobin — is produced. Hemoglobin is the molecule in red blood cells that distributes oxygen to the body. Methemoglobin cannot release oxygen. In methemoglobinemia, the hemoglobin is unable to release oxygen effectively to body tissues,” explains the A.D.A.M. Medical Encyclopedia in their article on methemoglobinemia. In simple terms, there is a lack of oxygen in the blood stream, resulting in the blood’s inability to release oxygen to the tissue, like skin. This lack of oxygen makes the skin color appear blue instead of pink like it should be. The skin does not appear completely blue in most cases though, it is typically focused in one area. Johanna Morrison, a nursing student at the University of Kentucky explains, “Methe
moglobinemia is a rare genetic disorder, passed down through families, requiring two carriers of the recessive gene to see its effects. The disease causes a lack of oxygen in the blood stream, making it appear blue. There are some extreme cases, such as the Fugate family, but typically it only effects the nails, lips and eyelids.” However, the disease “can also be acquired as a result of chemical exposure, antibiotics and anesthetics. Aside from skin turning blue, symptoms also include shortness of breath, fatigue, dizziness, and fainting. More extreme cases may result in heart arrhythmia, seizures, coma and death, Michelle Rasey writes.
There was no real explanation what this disorder was, until another person kin to the Fugate family, went to the doctor. Rachel and Patrick Ritchie, brother and sister with no intimate relations, went to a small county health clinic in Hazard on a bitterly cold afternoon. When they walked in, Nurse Ruth Pendergrass was caught off guard and “scared to death!” (Trost) The siblings caught the nurse off guard, because they were blue, like their ancestors. She thought that they were blue because it was cold outside; she realized this could not have been the case, since the color never faded while they were waiting to be seen. Pendergrass called hematologist Dr. Madison Cawein, a Lexington native, who was known for being interested in strange diseases. Dr. Cawein’s first im
pression of the Ritchies… “’They were bluer’n hell!’” (Trost) He began running tests, concluding there was no heart disease in either of them and there was nothing wrong with their lungs. Dr. Cawein began charting out their family tree, and soon realized, they were decedents of the Fugates of Troublesome Creek. Medical tests were run, but none of them showed the real reason why they were blue. ‘”They were really embarrassed about being blue,’ [Dr. Cawein] said. ‘Patrick was all hunched down in the hall. Rachel was leaning against the wall. They wouldn’t come into the waiting room. You could tell how much it bothered them to be blue.’” (Trost)
Dr. Cawein set out on the difficult task of figuring out the cause of the Fugate’s blue tint, “most people with methemoglobinemia acquire it through health-threatening circumstances, such as heart and artery defects, nitrate poisoning (“Blue baby
Dr. Cawein was determined to help the Ritchie’s with their emotional pain and help them to appear “normal” in the eyes of society. He and Pendergrass ventured out to the homes of the blue families with his black medical bag. Dr. Cawein took blood samples of several family members, including Zachariah and his aunt Bessie (both from a small, almost dead, mining town, known as Hardburly), before coming up with the dosage he felt would be most appropriate. After a few weeks, he injected Patrick and Rachel with 100 mg of methylene blue. This ironic cure required injecting blue into the veins of the already blue people. Once it set it, the blue began fading from their skin, allowing temporary relief from the emotional discomfort of being blue. The problem with methylene blue is it is extremely temporary and usually leaves the body through urine, Dr. Cawein left pills for the family to take daily to deal with it. However, many of the blue family members wouldn’t come out of seclusion to receive treatment, and there have no reliable sightings of the Fugates since Benjy’s birth.syndrome”) or respiratory problem,” Jeffery Holland notes in his blog, Blue People of Kentucky. It was clear the disease was passed on through the family’s inbreeding practice, but where did it come from originally? If Dr. Cawein was able to figure out the root of the disease, he would have an easier time treating the family members he was working with.
As the family began moving out of the holler, there were less and less blue people being born until Benjy was born. Benjamin Fugate was one of the last blue Fugates born, although the gene continues to be passed from generation to generation, the chances of the effects being seen are decreasing with each new generation. (There is only a twenty five percent chance of the child being blue, as long as their parent does not carry two recessive genes.) Benjy had dark blue skin when he was born, but it started to fade a few weeks after he was born, unlike the rest of his kin. The color remaining only appears in Benjy’s lips and nails, unless he is very mad or cold, then the rest of his skin will get a blue tint to it as well. Hilda Stacy, his mother, is very protective of her son, when people would come to question the blue family history, she would get very defensive and protective, turning them away and ordering them off of her property. Hilda is tired of her family only being associated with inbreeding, because they have much more to offer to society than their rarity.
After reaching adulthood, Benjy Stacy and his family left the state of Kentucky and went to Alaska to live a quiet life. Once the left Kentucky, people have not heard much from him and do not know anything of his life or know if his children have the same blue tint he is cursed with. The strange thing is the Stacy family is not the only blue family in Alaska. If it was not for a blue Inuit family, Dr. Madison Cawein would never have known to use the methylene blue to treat the Ritchies and Fugates. Dr. Cawein used the research of Dr. Scott’s research, “reported in a 1960 edition of the “Journal of Clinical Investigation,” [which] isolated the exact mechanism of action for methemoglobinemia, a missing enzyme in red blood cells. The absence of this essential enzyme, called diaphoresis, allowed the deoxygenated components of red blood cells to build up in the body, giving it a blue cast.” (Rasey) This family receives very little attention since they are so secluded from society, but it goes to show, there are other people that inherited this rare gene through inbreeding, that are not from the state of Kentucky.
The practice of inbreeding is not very common in the state, it only occurs in very isolated areas, where there is no access outside of the hills, hollers and hollows. This practice should not be stereotyped with Kentucky since it isn’t common practice. Emily Nelson, a student at the University of Kentucky feels the fact that there are blue people in the state is terrible, because it only stereotypes us further. There are the few rare cases that occur and the even rarer cases of disease that is passed through the family. The Fugates are a rare case, but every day they have to suffer with the pain and humiliation of being blue, or other physical or mental effects, and will always be associated with inbreeding.