Even before I laid eyes on Daryn Jordan, I knew something was very wrong. That was five years ago, when Al Reynolds, a pediatric neurologist, called me after admitting the seven-month-old to our hospital.
The kid was doing fine until a month ago, Al had said. His parents say he smiled, rolled over, sat up, and babbled. But now he’s lost all those skills. When I first saw him, he was listless, cranky, and as floppy as a dishrag. Even when he is propped up, he can’t sit, and the only sound he makes is this high-pitched cry.
He’s degenerating, I said.
Seems like it, Al replied. We’re doing an EEG, an MRI, a spinal tap, and lots of blood work. I’d also like you to evaluate him to see if his problems are genetic.
I promised to see the boy immediately and headed over to the infants’ unit. I found Daryn lying on his back, his outstretched limbs flaccid and still. His cry, a constant, high-pitched whine, was one I knew all too well. As a pediatric geneticist, I’d had the misfortune to hear those cries before--and they told me something was wrong with this boy’s brain.
