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Mobilizing MutationsHuman Genetics in the Age of Patient Advocacy$
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Daniel Navon

Print publication date: 2019

Print ISBN-13: 9780226638096

Published to Chicago Scholarship Online: May 2020

DOI: 10.7208/chicago/9780226638126.001.0001

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Assembling a New Kind of Person

Assembling a New Kind of Person

(p.171) Five Assembling a New Kind of Person
Mobilizing Mutations

Daniel Navon

University of Chicago Press

In order to illustrate how advocates are mobilizing mutations today, this chapter delves into the patient advocacy network organized around 22q11.2 Deletion Syndrome. Activists still face a range of deep-seated obstacles—especially in fields that are resistant to genomic designation—leaving conditions like 22q11.2DS underrecognized and many patients undiagnosed. This chapter shows how 22q11.2DS advocates have made huge strides courting allies and expert-activists, advancing awareness among key constituencies, increasing detection, and building capacities. Drawing on the model of the Fragile X movement, groups like the International 22q11.2 Foundation have developed the knowledge and resources—including specialist clinics, local support groups, diverse research programs, a growing medical literature, and online resources for parent-advocates—that can transform patients’ lives. They have also sought to absorb the 22q11.2 duplication syndrome population into their ranks and add 22q11.2DS to newborn screening programs. With new historical conditions of possibility, the help of a new generation of genetic counselors, and established repertoires of social mobilization to draw upon, advocates have turned 22q11.2DS into a powerful category of human difference in certain fields and locales. Studying the 22q11.2DS network or "apparatus" therefore helps us understand what it takes to make mutations truly matter to patients and families.

Keywords:   22q11.2 Deletion Syndrome, Fragile X, repertoires, apparatus, patient advocacy, diagnosis, awareness, genetic counselors, detection, newborn screening

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