A medical mystery lasting for over 150 years has been solved, and descendants are reaping the benefits of one doctor's determination and fascination with a blue family.
Cathy Trost has written a detailed account of the Fugate family's skin coloring and notes that it wasn't until Benjamin "Benjy" was born that doctors began investigating the cause of his blueness. "Doctors were so astonished…that they raced him by ambulance from the maternity ward in the hospital near Hazard to a medical clinic in Lexington."
Ben Stacy is still alive, although he now has a more normal flesh tone. He quickly lost the blue hue and reports that only his nails and lips still turn purple when angry or upset. Stacy lives in Alaska with wife Katherine, and the couple has four children, none of whom carry the genetic marker that has made his family a legend.
In 1960, Dr. Madison Cawein began hearing stories of the Fugate family coloring and decided to investigate. What he found was plenty of stories with very few answers. He began by meeting members of the family, who were often so embarrassed they refused to talk to Cawein.
"After ruling out heart and lung disease, the doctor suspected methemoglobinemia, a rare hereditary blood disorder that results from excel levels of methemoglobin in the blood. It is the color of oxygen-depleted blood seen in the blue veins just below the skin," wrote Trost.
Testing for the abnormality gave negative results, but Cawein was not giving up. He read an article in the Journal of Clinical Investigation that described hereditary methemoglobinemia among exclusive groups such as Alaskan Eskimos and Indians. Cawein came to realize that in order for the gene to be passed along, carriers would have to be related.
He then drew blood from other family members. "So I brought back the new blood and set up my enzyme assay. And by God, they didn't have the enzyme diaphorase. I looked at other enzymes and nothing was wrong with them, so I knew we had the defunct defined."
The next step was to try and cure the Fugate family of their unusual condition. "Cawein knew from earlier studies that the body has an alternative method of converting methemoglobin back to normal. Activating it requires adding to the blood a substance [blue dye] that acts as an 'electron donor.'"
Cawein, along with Nurse Pendergrass delivered the injection to members of the family and were astonished with the results. "Within a few minutes, the blue color was gone from their skin. For the first time in their lives, they were pink. They were delighted."
According to the family genealogy, Martin Fugate married Elizabeth and produced seven children, four of whom were blue. As their children grew, they began intermarrying cousins who also carried the hereditary gene. Genealogist Dennis Stacy, a descendant of the Fugate family, has noted: "When they settled this country back then, there was (sic) no roads. It was hard to get out, so they intermarried."
This situation kept repeating itself for over 100 years, leading up to the birth of Benjamin. Fortunately he has moved and married someone who does not carry the recessive gene. He may be the last "blue" member of the Fugate family.