Fishing for Genes

In 2007, a woman took four of her sons to see Joanna Jen, a neurologist at the University of California, Los Angeles. The brothers ranged from 5 to 14 years old and all had the same mysterious disease.The boys had appeared normal at birth, except their muscles were a bit floppy. They quickly got worse. They didn’t gain control of their heads and didn’t grow as they should have. By 10 months, they were smaller than 95 percent of kids their age. They never reached any of their motor milestones, and never learned to eat, stand up, or speak. “They had the sweetest smiles,” Jen recalls. “It was heartbreaking that they were just so severely affected.”Over the years the family had been to many doctors, who had ordered various brain scans and muscle tests. No one had any idea what was wrong. The parents had nine children, in all, and felt strongly that each one was a gift from god, Jen says. “They were at peace with their children’s condition. But at the same time, they couldn’t help being curious what their children have.”All of the other doctors had focused on a striking feature in the boys’ brain scans: an especially tiny cerebellum, the bulb at the bottom of the brain that’s involved in movement, balance, and learning. Jen was more intrigued by the boys’ bodies. “What was striking to me was that they had no muscle,” she says. “They were so skinny.”Jen referred back to the boys’ medical records and found tests indicating irregularities in their spinal motor neurons, which help control muscles. This was odd. There are lots of diseases that stem from problems with motor neurons, like Lou Gehrig’s disease. And there are lots of others that are tied to glitches in the cerebellum. But the combination? “It’s exceptionally unusual,” she says.Read more at...Only Human, January 2013.