The baby was gravely ill. Rapid sequencing turned around a diagnosis in 13 hours — and pointed to a treatment

STAT July 22, 2021
Andrew Joseph

When the boy was brought to the San Diego emergency department one night last October, he was inconsolable. Within about half an hour, clinicians had a clue of what was wrong: A CT scan showed signs of disease in the 5-week-old’s brain.

There was another clue, too, but also a portent: A decade earlier, the parents’ infant daughter had presented with some of the same symptoms at around the same age, but never received a diagnosis. She developed seizures and died at 11 months.

All that pointed to a genetic condition. But those warning signs in the brain, called encephalopathy, could be caused by some 1,500 such diseases.

Just a few years ago, there would have been little doctors could...

Today's Sponsors

Today's Sponsor