A Life Saved By Genetic Sequencing

On her Instagram feed, Amanda Gonzalez-Bunster recently posted a photo in which she is, literally, the picture of health. She’s beaming. The camera’s flash bounces off her obsidian-black hair and the metallic foil flower pattern on her skirt. Her eyebrows, perfectly arched, convey poise and power. Gonzalez-Bunster, 35, looks like a business executive hamming it up after a long day in the office. 

Gonzalez-Bunster tagged her image with the hashtag “#sickgirlsclub.” This puzzling juxtaposition of health and illness comes from the insidious nature of her disease: it can hide in plain sight. For nearly two decades, it hid from medical specialists who searched for clues to find what ravaged this young woman’s body.  

Earlier this year, Gonzalez-Bunster began taking a medication that transformed her life and health. This was made possible by a team of Yale Medicine experts who used genetic sequencing to pinpoint the diagnosis: familial partial lipodystrophy type 3. This condition belongs to a group of rare disorders in which the body cannot produce fat tissue. The lack of fat cells—called adipocytes—sets off a cascade of other health problems, which can go undetected beneath the exterior of a person who looks perfectly healthy. “When I was little, I looked like an athlete—we used to joke about it,” Gonzalez-Bunster says.   

Neither Gonzalez-Bunster, nor her mother, Debbie, can recall anything unusual about her active childhood growing up in suburban Connecticut. As a 7-year-old, Gonzalez-Bunster visited her pediatrician, who requested a blood sample to test for high cholesterol as part of a then-progressive idea of screening for the earliest possible signs of heart disease. Everyone was confused when the child’s blood sample came back from the lab as unreadable. At the time, Debbie thought perhaps it was because her daughter had enjoyed a cupcake at a birthday party just before the blood draw. Given the child’s apparent health, the pediatrician decided to wait until the following year to test another blood sample—in the morning, before any food or drinks. When that one, too, came back unreadable, the pediatrician referred her to Columbia Presbyterian Medical Center’s newly founded lipid disorder clinic. 

There, they discovered a problem: Gonzalez-Bunster’s baseline triglycerides, the so-called “bad fat” levels, clocked in at 2,700 milligrams per deciliter. (Less than 150 is considered normal and healthy.) “If you let Amanda’s blood sit in a vial, it will separate into something that looks like chicken fat and a little bit of blood,” Debbie says. Spun in a centrifuge used to analyze blood samples, her blood takes on the consistency and color of strawberry cream. At the time, the slender 8-year-old was diagnosed with hypertriglyceridemia, a disorder usually found in obese or diabetic patients. With no lipid-lowering medications available for children, doctors could only encourage a low-fat diet and active lifestyle. Gonzalez-Bunster continued a carefree, busy childhood. 

She fell in love with swimming early on. By middle school, high school swimming coaches were coming to watch her on travel team circuits. As a high school freshman, she was already a star, competing in the freestyle, breaststroke, and relay. But, excited by her talent, her coaches pushed her too hard, too fast. In her sophomore year, she required surgery to repair her injured rotator cuff. At 15, the star swimmer ended her career. No one was prepared for what happened next.