Engle didn't know either, so she referred the boy for a battery of neurology and ophthalmology tests. A short note back from the consulting ophthalmologist stung: "Why are you putting the child through all these tests? He has a well-described syndrome that's been in the ophthalmological literature since the 1800s. Congenital fibrosis syndrome."
Embarrassed that she hadn't recognized the syndrome, Engle—now an HHMI patient-oriented researcher—went straight to the literature. True, the disease was well described, but it wasn't well understood. She was determined to look at it with fresh eyes.
Photo: Jeff Barnett-Winsby