Prader-­Willi Syndrome

When Rachelle was born, her limbs flopped, she couldn’t suckle or cry and her heart and lungs were weak. The diagnosis was a rare chromosomal abnormality called Prader-­Willi syndrome, which causes low muscle tone and impairs signaling between the brain and the stomach. For several years, Rachelle would show no interest in eating, doctors told Rhoda; then she would crave food intensely for the rest of her life. No matter how much Rachelle ate, she would never feel full. To make matters worse, she would also have an especially slow metabolism, predisposing her to morbid obesity. Though people with the syndrome now routinely live into their 50s and 60s, their average life expectancy in the United States is 30; most die of obesity-related causes. Frighteningly, because no sensation of satiety tells them to stop eating or alerts their body to throw up, they can accidentally consume enough in a single binge to fatally rupture their stomach.

In the South Georgia town of Valdosta, where Rachelle’s family lives, elaborate spreads of high-calorie fare are the centerpiece of every social activity. Rhoda, who grew up as the daughter of a Southern Baptist minister in Valdosta, is obese, as is most of her family. But Rachelle’s health problems are far more complicated. By the time she was 8, she weighed close to 200 pounds and had diabetes, pulmonary hypertension, asthma and sleep apnea. Rhoda knew that people blamed her for her daughter’s size. She consulted a nutritionist, tried to limit portion sizes and kept rigidly scheduled mealtimes; she took Rachelle and her older sister, Raquel, walking at a local track for exercise, and she got Rachelle physical therapy. But she couldn’t seem to halt Rachelle’s weight gain.

Article