Eli Kadkhoda was bouncing around his West Los Angeles living room, jumping from cushion to cushion on the sprawling L-shaped couch as “Paw Patrol” (his favorite show) played on the TV.
To a stranger, he was just an energetic 4-year-old. But his mother, Sanam, knew better. She knew what he’d already lost — many of his words, some of his muscle tone, a bit of his balance. And, because of a new collaboration between geneticists across the country, she knew what he is predicted to lose eventually — the ability to walk, to eat and drink, to speak.
Eli is one of a handful of children found to have a condition discovered so recently it is still called by a number — “IRF2BPL-related condition,” after the gene to which it is linked. The number of known patients in the United States is so small that their parents refer to the other children by their first names: Eli, Caleb, Alex, Leo and Manuel, all healthy at birth, all stumbling and losing speech by kindergarten, all wheelchair-dependent soon after.
As the youngest among them, Eli’s future is foretold by those who preceded him. His parents know what’s likely to happen, and that for now there is no way to stop it. Finding the cause of his condition was a triumph by a new research consortium, the Undiagnosed Diseases Network (UDN). But it hasn’t, at least yet, led to a treatment. As a result, the IRF2BPL-related families are suspended in a scientific moment, one familiar to increasing numbers of patients. They have been handed an answer that leads to more questions; they have a name for their affliction, but not a cure. They have some knowledge, which is a comfort — but also a vexation. READ MORE