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38 No research is needed to demonstrate that for parents, news that their child has been diagnosed with a serious genetic disease is devastating to receive. Regardless of how and when the diagnosis comes, it brings with it a range of painful responses: shock, grief, anger, numbness, fear, and very often the feeling that—as a number of parents put it—“our little world just crashed.” Worry about the future, questions about what the diagnosis means, and a sense that life is irretrievably altered—these experiences are a somber province shared by all parents receiving their child’s cystic fibrosis diagnosis. Other aspects of parents’ experience with genetic diagnosis, however, vary significantly, not just because of individual differences in emotional makeup and ways of coping under stress, but also according to when, how, and why the diagnosis is made. With the rapid expansion of newborn screening, the context in which parents most often receive diagnostic information about their children—and thus too the context of early parenting—is being definitively transformed. This chapter begins to answer the question, How might expanded newborn screening be changing the experience, the significance, and the impact of childhood CF diagnosis? It explores diagnostic processes for CF, drawing on parents’ narratives about the NBS process—as well as on comparisons between parents’ experiences when diagnosis is at birth and when diagnosis comes after symptoms emerge. The particular diagnostic pathway parents travel to arrive at CF influences their experience of the destination. I examine here various aspects of first encounters with CF, including their impact on parents’ postbirth period; on their sense of the affected child; and on their relationships with family and Diagnostic Odysseys, Old and New How Newborn Screening Transforms Parents’ Encounters with Disease Chapter 2 Diagnostic Odysseys, Old and New 39 community. This chapter also lays important groundwork for deeper exploration of NBS’s implications for parenting (chapter 3) and for relationships with health care professionals (chapter 4). CF is the second-most common genetic disorder affecting the U.S. population (sickle-cell anemia is the most common), and the most common for people of Northern European descent. As noted in chapter 1, one in 3,700 newborns in the general population has the genotype (CDC 2004). Approximately thirty thousand people in the United States were living with the disease in 2010.1 While these statistics are well known to clinicians, most people outside medical circles still have little awareness of CF. Down syndrome is a genetic disorder that has gradually made its way into the public consciousness, and certainly the inherited factor at play in breast cancer rapidly became common knowledge after the BRCA gene was identified in the 1990s, despite the fact that it actually contributes to the disease in only 5 to 7 percent of cases (Rothman 1998). But at the end of the first decade of the twenty-first century, CF has not yet become part of the popular lexicon of genetic risk and disease. It is not something parents actively worry about during pregnancy, nor is it something they are likely to think of as the culprit if their child develops one or more early symptoms of the disease—especially since these symptoms can also indicate many other childhood illnesses. NBS for CF is now mandatory in all fifty states, yet most parents still know little or nothing about the condition before their own child is tested. No parent I interviewed had any specific concern about her child’s risk for the disease ahead of time, with the exception of six mothers who had had routine carrier screening during pregnancy but had chosen not to find out if the fetus was affected. In this context of little or no knowledge from elsewhere, the diagnostic process itself—the rolling out of procedures designed to determine if the disease is in fact present—looms very large for families with affected children. From Sober Confirmation to Devastating Surprise: The Influence of Context on Parents’ First Encounters with CF Diagnosis of a genetic disorder can mean the long-sought answer to the question , What is wrong with my child? It can mean unsuspected, unsolicited revelation of invisible chromosomal abnormalities within the body of a healthy, or seemingly healthy, newborn. It can mean the relief of finally having a label and some appropriate medical treatment; the confirmation of a half-conscious suspicion; the death of blissful ignorance; the advent of needless worry. In each case, what...

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