GENETIC NORMALCY AND THE NORMALCY OF DIFFERENCE. GENETIC DEAFNESS RESEARCH IN 2OTH CENTURY AMERICA by Marion Andrea Schmidt A dissertation submitted to Johns Hopkins University in conformity with the requirements for the degree of Doctor of Philosophy. Baltimore, Maryland March 2016 © Marion Schmidt ABSTRACT Is deafness a defect to be prevented by genetic technology or merely a non- pathological variation that has given rise to a sociocultural minority? Is it ethical to prevent the birth of a child with deafness? Are deaf parents acting immoral if consciously choosing a deaf child? Over the last 100 years, geneticists' attitudes on these questions have shifted from a clearly medical-pathological definition to acknowledging Deaf culture and the Deaf community, conscious of the potential 'genocidal' impact of reproductive technology. To understand why, by the end of the 20th century, geneticists and associated professions have “gone native” and identified with Deaf culture while neurologists or audiologists continue to consider deafness a grave neurological disability, this thesis analyzes how different professional paradigms have shaped perceptions of deafness, and how different scientific communities have – or have not – interacted with deaf individuals and deaf communities From the late 19th century triumph of oralism – the practice of teaching lip-reading and speech at the exclusion of sign language –, with its strong ties to medical and eugenic prevention, this thesis explores the emergence of alternative perceptions of deafness among geneticists and other professionals concerned with hereditary deafness. Particularly important is the influence of psychologists and (genetic) psychiatrists in defining the abilities and pathologies of deaf people, as well as in shaping practices of family and genetic counseling. Research of and attempts to prevent hereditary deafness reflect changing ethical and cultural norms that define who is considered normal, disabled or different, a good citizen or a burden to society. Negotiations over deafness as disability or difference are an integral part of 20th century debates over citizenship, national ii identity, and overcoming otherness. Tying together the history of disability, psychology, psychiatry, eugenics and genetics, this thesis deconstruct the norms and paradigms that have and continue to shape the ethics of genetic research and reproductive counseling. Doctoral Advisor: Nathaniel Comfort, PhD Thesis Committee: Daniel Todes, PhD Jeremy Greene, PhD Ronald Walters, PhD Brian Greenwald, PhD iii ACKNOWLEDGEMENTS My first thanks goes to my advisor, Nathaniel Comfort for his his support, dedication, close reading of many, many drafts and willingness to engage in intellectual debates. I am also indebted to Dan Todes for his dedication to teaching, calming influence, patience, and for many good conversations; and to Jeremy Green for his abilities see the bigger picture when I saw trees rather than the forest. Ronald Walters and Brian Greenwald where my go-to scholars for American and Deaf history, respectively. Cathy Kudlick, my mentor in the AHA disability history mentoring program, has supported my venture into this field and helped me think through questions of disciplinary boundaries. The knowledge of several archivists and librarians have made this thesis much richer: Christine Ruggere, curator at the JHU Institute's of the History of Medicine's Historical Collection, Kathy Lafferty at the University of Kansas Spencer Research Library, Jody Sidklaus at the Rochester Institute for Technology Archives, James Sweatt at the Vanderbilt University Eskind Biomedical Library, the staff at the Gallaudet archives, who patiently put up with my lack of signing skills, and Danielle Kovacs at Umass Amherst Special Collections, who was exceptionally dedicated to finding and providing me with the documents I vaguely asked for. Likewise, this thesis would not have been possible without the willingness of my oral history interview partners to engage in conversation, share their life stories and reflect on their scientific practices. My six years at the JHU Institute of the History of Medicine have been intellectually rewarding and an all-around learning experience. Discussions with iv faculty members and fellow graduate students have greatly helped shape this thesis. Other scholarly communities in the history of medicine, psychiatry and disability have helped my growth as a scholar. The AHA disability history reading group in particular provided a lively exchange of thoughts and support. Two JHU teaching fellowships enabled me to design and teach classed on disability, genetics and gender, and thus to rethink my research and writing. My research also was generously supported by a Woodrow Wilson Foundation Charlotte W. Newcombe Dissertation Fellowship on Religious and Ethical Values. I am grateful to my family for working hard so I could go to university and for making me take work breaks, and to my friends in Baltimore, Mississippi and Portland, the Black Forest, Freiburg, Paderborn, Gießen and Berlin for providing me with support and food, access to kids and cats, American Thanksgivings and Spring Breaks, and reason to travel all over. A special thanks goes to Nicky and Ed for encouraging me to do this US grad school thing in in first place. v TABLE OF CONTENTS Abstract ii Acknowledgments v I. Introduction 1 II. Progressive Science, eugenics and educational reform: (Hereditary) Deafness research in early 20th century America 24 III. Educational perfection and hereditary prevention. Research and counseling at the Clarke School in the 1930s and 40s 112 IV. Big Science; a small school. The expansion and diversification of genetic deafness research in the 1950s and 1960s 154 V. Between pathology and particularity. Genetics and deafness at the New York State Psychiatric Institute, 1955 to 1969 233 VI. Genetic and emotional risk; self-finding and self-surveillance. The case of Usher Syndrome 317 VII. Genetic awareness, neutrality and empowerment. The rise of culturally sensitive counseling 1960-1990 410 VIII. Conclusion 507 IX. Bibliography 528 Curriculum Vitae 555 vi I. Introduction In 1883, Alexander Graham Bell presented a speech to the U. S. National Academy of Sciences titled Memoir upon the Foundation of a Deaf Variety of the Human Race. Bell is most famous for his invention of the telephone, yet he was also active in the eugenic movement and probably the most influential figure in deaf education during the late 19th and early 20th century America. He combined these interests in his study of the marriage patterns of deaf people and of the hearing status of their children. Deaf people, he noted, tended to marry each other. This habit not only separated the deaf and the hearing socially, but had potential biological consequences too. Bell believed deafness to be hereditary in many cases; deaf intermarriages thus passed on hearing loss to the next generation. In the long term, it might even lead to the creation of a deaf subspecies. Such a “defective race of human beings,” Bell believed, “would be a great calamity to the world.”1 In deaf education, Bell pursued a policy called oralism, the teaching of speech and lip-reading. In the late 19th century, oralism seemed to be the method of the future, employing scientific methods to achieve the modern miracle of teaching speech to the deaf. Advocates of oralism wanted it to replace manualism, or the use of sign language that had been considered the most effective educational tool by an older generation of teachers. Sign language also was one of the main traits of the deaf community that had formed since mid-century, organized in a myriad of clubs, churches, professional and recreative organizations. They were one of many American minorities that saw no contradictions in being US citizens while being part of a specific subculture. By the late 19th century, nativist sentiments and evolutionary 1 Bell, Alexander Graham. 1884. Upon the formation of a deaf variety of the human race. Washington: U.S. Govt., 4, 41. http://catalog.hathitrust.org/api/volumes/oclc/2141276.html. Emphasis in original. 1 thought cast suspicion on sign language and deaf culture, and contributed to the acceptance of oralism as an assimilatory and curative technique. The fervent debate over the right methods in deaf education mirrored larger changes in understanding the nature of thought and language, the meaning of being human, of minorities maintaining their independent identities or assimilating into larger society. It also had an explicitly eugenic dimension. For Bell, oralism was not only an educational tool, but also a eugenic solution. Enabling the deaf to speak would end their separatism and integrate them into hearing society. It would discourage deaf intermarriage and thus avert the danger of a deaf race. Bell's combination of oralist principles and eugenics shaped both the course of deaf education and heredity research into the mid 20th century, instilling in professionals a long-lasting fear that deaf people’s marriage habits would lead to an increase in deafness.2 Over a century after Bell's Memoir, in 2003, geneticist Walter Nance confirmed Bell's fears, in a modernized way. By then, geneticists had identified several hundred forms of genetic deafness. Yet there was one form of recessive deafness – caused by a deficiency in the protein connexin 26 – that was responsible for half of all genetic cases in the US. This had not always been the case. Nance's analysis of population data had shown that deaf people's endogamous marriage patterns apparently had increased the frequency of connexin 26 deafness over the course of the last 200 years. Indeed, the establishment of residential deaf education in the early 19th century, and, in turn, the development of deaf communities and 2 Brian Greenwald has presented the most extensive study of Bell's educational policies and eugenic research. See Greenwald, Brian H. 2006. Alexander Graham Bell through the lens of eugenics, 1883-1922. PhD thesis. Washington D. C.: The George Washington University. Douglas Baynton has traced the larger social trends that led to a reevaluation of deaf culture and signed vs.