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.
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http://dx.doi.org/10.1002/hast.1155 | DOI Listing |
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