- From Our Journals
We Have Seen the Mutants—and They Are Us: Gifts and Burdens of a Genetic Diagnosis
Abstract: In this essay, I recount and examine my response to a genetic diagnosis of my disabled daughter. My daughter was forty‐nine before the diagnosis came. All her disabilities were traceable to a de novo single gene variant on the PURA gene that was discovered only in 2014. I speak of the jolt and the recalibration that this discovery engendered, concluding that, while it seemed that everything had changed, nothing had changed. But my family did discover a community in which Sesha joins other PURA‐perfect sons and daughters and where we as a family acquire a “horizontal identity” marked by a genetic variant.