James DeLine is the country doctor in the Wisconsin village of La Farge, which has a population of 750. The 65-year-old makes house calls with his medical bag and knows everybody by name, along with their medical histories. But the image of the quaint country doctor gets thrown for a loop in a profile by Mark Johnson in the Milwaukee Journal Sentinel. The reason? DeLine serves the local Amish and Mennonite communities, and as a result he ends up treating some of the rarest genetic diseases in the world. For example, the story begins with his treatment of a 26-year-old man with a debilitating illness called sitosterolemia, which is caused by a genetic mutation. Only 100 cases exist in medical records. DeLine, though, has 13 sitosterolemia patients, six of them in one family.
Another developmental disease, SNIP1, has been found in 34 people worldwide, and DeLine has seen nine of them. He's also seen six of the world's 25 or so cases of BRAT1, and two of his patients have ailments that don't exist in medical literature. The story explains how DeLine works with top geneticists worldwide, all while maintaining respect for his patients' beliefs and simple lifestyles. “He’s maintained the Norman Rockwell bedside manner skills, and yet he’s working on the cutting edge of 21st-century medicine, the very newest science,” says Byron Crouse, an expert on rural and community health who knows DeLine. “I can’t think of anybody else who has that ability.” (Click to read the full story.)