In the early nineteenth century, a couple settled deep in the Appalachian Mountains, roughly 185 kilometers or 115 miles southeast of Lexington, Kentucky. When they started their family, an extraordinary genetic anomaly revealed itself. Some of their children were born with skin that was a striking shade of blue.
This medical condition persisted in their isolated family line for over a century, baffling doctors until a hematologist uncovered the biological mechanics behind their unusual skin tone.
A Recessive Gene in the Appalachian Mountains
In 1820, Martin Fugate, a French orphan, married Elizabeth Smith. They established a homestead near Troublesome Creek, a remote area near Hazard, Kentucky. Both Martin and Elizabeth carried a rare, recessive gene for a blood disorder known as methemoglobinemia.
Because both parents possessed this mutation, the odds were stacked for their offspring to express the physical trait. Out of nine children, four were born with completely blue skin. Due to extreme geographic isolation, the local gene pool remained highly restricted. The descendants of the Fugates continued to intermarry with local families who also carried the recessive gene, ensuring the condition appeared in subsequent generations.
The Bluest of the Generations
For over a hundred years, the descendants continued to live around Troublesome Creek and Ball Creek. The condition did not cause physical pain or severe health complications. Luna Stacy, one of the most well-known descendants, was famously described by locals as the bluest of the Fugates.
She lived a healthy life, eventually passing away at the age of 77 after giving birth to 13 children. Despite their general good health, the family faced intense social isolation and psychological distress due to their distinctive appearance.
Medical Investigation and a Chemical Solution
In the 1960s, a hematologist named Madison Cawein III traveled to the region with nurse Ruth Pendergrass to investigate the phenomenon. Cawein drew blood from the affected family members and conducted extensive testing. He discovered that a deficiency of the enzyme diaphorase caused a lack of oxygen in their red blood cells.
This oxygen deficiency turned their blood a dark, chocolate brown color, which then made their skin appear blue. Cawein treated the family by administering daily doses of methylene blue. The chemical acted as an electron donor, successfully converting the methemoglobin back to normal hemoglobin. Within minutes of taking the medication, the family members saw their skin turn a typical pink color.
The Final Known Descendant
The last known descendant born with the characteristic blue skin was Benjamin Stacy, born in 1975. Shortly after his birth, medical staff transferred him to a larger hospital for observation due to his unusual coloring.
However, Benjamin only carried a single copy of the mutated gene. As he grew older, he quickly lost the overall blue skin tone. The blue coloration would only reappear slightly on his lips and fingertips when he became cold or agitated.