The PKU Paradox: A Short History of a Genetic Disease

A Note on Sources

219 A NOTE ON SOURCES Patient Interviews No “biography” of PKU, even a short one, would be complete if it did not pay attention to the lived experience of patients and their families. Indeed, one aim of this book is to provide a more realistic account of life with the disease than readers are likely to encounter in discussions intended for nonspecialists. To that end, between January 2006 and June 2008, Diane Paul conducted in-depth interviews with eighteen adolescents and adults recruited through the metabolic clinic at Boston Children’s Hospital. In identifying prospective participants, an effort was made to maximize the range of age, health, marital and socioeconomic status, and education. Those especially well able to describe their beliefs and experiences were oversampled. Since the problem of maternal PKU was of particular interest, thirteen of the interviewees were female. The aim of this study was not to generalize—which would have been impossible, given the small numbers and geographically and otherwise unrepresentative sample—but rather to obtain insights into the meaning of PKU from people who live with it (understanding that we are describing the experiences, thoughts, and feelings of people in this particular sample) and also to include patients’ voices in our narrative, which we believed would increase its richness and complexity. After Institutional Review Board approvals were obtained from both Boston Children’s Hospital and the University of Massachusetts Boston (UMB), Susan E. Waisbren, the senior psychologist for the metabolism program and principal investigator for this component of the larger study, reviewed prospective participants with other clinic staff and with Diane. Clinic staff then made an initial inquiry as to whether these individuals might be interested in participating in the study. Positive responses were followed up with a letter cosigned by Diane and Susan, which described the aims of the study in more detail. Aliases are used for all participants referred to by name in the book Apart from gender and approximate age at the time of the interview, all personal identifiers have been omitted. Insights derived from these formal interviews have been supplemented with material from newsletters, websites, and a variety of other publicly available sources. Over the past eighteen years, Diane has also attended the monthly planning-group meeting of the New England Consortium of Metabolic Programs and engaged in various outreach activities, such as helping to staff an annual PKU summer camp, 220 A Note on Sources which provided a more informal entrée into the real world of PKU. Diane also ran a StoryCorps-type booth, sponsored by the organization Patient Power, at the first International Conference for Teens and Adults with PKU, held in Chicago, August 15–16, 2008. The stories were recorded, with the aim of posting them on the Patient Power website, and CDs were distributed to conference participants. Although the stories were of a semi-public character, they were ultimately not published on the website, and Diane decided to anonymize any individuals quoted in this text, who are described only in very general terms like “a young man.” Oral History Interviews Between 2006 and 2009, Diane also conducted a series of oral history interviews with individuals (listed below) who have long experience with one or more aspects of newborn screening, including its policy, laboratory, research, and clinical dimensions . Permission to conduct these interviews was granted by the UMB Institutional Review Board. Nearly all participants consented to the deposit of the recordings and transcripts of their interviews at the American Philosophical Society in Philadelphia , where they will be included in its Genetics Project and made available to other scholars. Phyllis B. Acosta, Atlanta, GA, December 7, 2007 Duane Alexander, Bethesda, MD, March 14, 2006 Samuel P. Bessman, Los Angeles, CA, March 22, 2006 Neil R. M. Buist, Portland, OR, September 4, 2007 Stephen D. Cederbaum, Los Angeles, CA, May 7, 2009 George C. Cunningham, Berkeley, CA, March 30, 2007 Robert O. Fisch, Minneapolis, MN, March 9, 2007 William B. Hanley, Toronto, ON, December 11, 2006 W. Harry Hannon, Atlanta, GA, November 17, 2008 Neil A. Holtzman, Baltimore, MD, December 13, 2006 Ernest B. Hook, San Raphael, CA, April 1, 2007 Kathleen Huntington, Portland, OR, September 5, 2007 Henry N. Kirkman, Chapel Hill, NC, February 12, 2006 Richard Koch and Jean H. Koch, Los Angeles, CA, March 25, 2006 Harvey L. Levy, Boston, MA, December 8 and 21, 2006 Edward R. B. McCabe and Linda McCabe, Los Angeles, CA, February 22, 2007 David Millington, Raleigh-Durham, NC, December 17...