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We Have Seen the Mutants—and They Are Us: Gifts and Burdens of a Genetic Diagnosis
Author(s) -
Kittay Eva Feder
Publication year - 2020
Publication title -
hastings center report
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.515
H-Index - 63
eISSN - 1552-146X
pISSN - 0093-0334
DOI - 10.1002/hast.1155
Subject(s) - daughter , nothing , identity (music) , genealogy , genetics , joins , genetic diagnosis , psychology , gene , biology , history , philosophy , aesthetics , evolutionary biology , epistemology , computer science , programming language
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 .