A father recounts his family’s quest to diagnose a rare disease in their son:
We discovered that my son inherited two different (thus-far-unique) mutations in the same gene—the NGLY1 gene—which encodes the enzyme N-glycanase 1. Consequently, he cannot make this enzyme.
My son is the only human being known to lack this enzyme. Below, I’m documenting our journey to the unlikeliest of diagnoses. This is a story about the kind of hope that only science can provide. (An open access article in The Journal of Medical Genetics contains the detailed results from ground-breaking experiment that diagnosed him.)