When Charles Konsitzke and Dhanu Shanmuganayagam first met, they were both just trying to get some peace and quiet. It was early 2014, and they were representing the University of Wisconsin-Madison at a fancy event to promote the university’s research to local politicians. After hours of talking to senators, Shanmuganayagam was fried, and went for a walk to clear his head. That’s when he bumped into Konsitzke, an administrator at the University of Wisconsin’s Biotechnology Center. They introduced themselves, and discussed their work. Shanmuganayagam said that he ran a facility that rears miniature pigs, which are genetically engineered to carry mutations found in human genetic disorders. Scientists can study the mini-pigs to better understand those diseases.
“And I said: I have a project for you,” Konsitzke recalls.
Konsitzke’s son Mason, now aged 7, was born with little brown birthmarks on his buttocks. Many kids have one or two of these café-au-lait spots and at first, Konsitzke thought they were cute. But after more appeared, he did some research and found that such spots are a common symptom of neurofibromatosis type 1 (NF-1)—an incurable inherited disease. Around Mason’s first birthday, a pediatrician confirmed the diagnosis.
NF-1 is an incredibly varied disease with many possible symptoms. The spots are the least of them. Some patients, Mason included, develop learning disabilities. Others develop bone and heart problems. Most commonly, patients get tumors on their skin and nerves; Mason already has one on the side of his face. These tumors are usually benign, but even so they can still disfigure. “It continues to grow, and if it runs out of space, it will deform his face outward,” says Konsitzke.