ARTICLE IN PRESS Social Science & Medicine xxx (2008) 1–9

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Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening Rachel Grob Sarah Lawrence College, Bronxville, NY, United States

a b s t r a c t Keywords: Newborn screening Genetics Disease Illness Parenting USA Cystic fibrosis

This paper explores how rapid growth in the USA of mandatory newborn screening (NBS) leading to a diagnosis of cystic fibrosis is changing, for affected families, their experience of illness versus disease. Qualitative research comparing newborn screening and postsymptomatic diagnostic experiences suggests a number of potent consequences associated with affixing a disease diagnosis through newborn screening. The early, unsought diagnosis deeply affects parents’ feeling of competence to care for their newborn and their sense of who the child is, and places the disease – rather than the process of ‘‘falling in love with’’ the new baby – at centre stage during the child’s early weeks and months; and causes health professionals to loom very large in the family’s life at this formative time. With newborn genetic screening continuing to expand rapidly in the USA for a range of other conditions that may not be immediately symptomatic, we can expect that the newborn period will be significantly altered in these ways for a growing segment of the population. Ó 2008 Elsevier Ltd. All rights reserved.

‘‘It’s hard to tell Tess that [she can’t]. go play with Chris. [I say,] ‘Well you can’t.’ ’Why?’ [she says.] I’m like, ‘You’re sick.’ [She says,] ‘Well, I don’t feel sick. I’m not sick’ [I say,] ‘Honey, but you’re always kind-of sick, you just don’t realize it.’’’ (Mother of young child diagnosed with cystic fibrosis)

Introduction The complex connections and differences between medically defined ‘‘disease’’ and experientially encountered ‘‘illness’’ have long been of interest to social scientists and historians. As defined by Kleinman (1988), illness is the ‘‘innately human experience of symptoms and suffering,’’ while disease is ‘‘an alteration in biological structure or functioning’’ that medical practitioners ‘‘have been trained to see through the theoretical lenses of their particular form of E-mail address: [email protected]

practice’’ (pp. 3, 5–6). This paper explores how the rapid growth of mandatory newborn screening (NBS) in the USA leading to a diagnosis of cystic fibrosis is changing, for affected families, their experience of illness versus disease – and thereby changing the interactions and power dynamics both within families and between parents of newborns and the health-care providers who diagnose their infants. This article extends the existing literature on the social impact of disease diagnoses by examining how the expansion of mandatory genetic testing at birth structures, for parents, specific kinds of disjuncture between their child’s medically defined disorder and her manifest illness. Theoretical framework and significance of the research Chronic disease in its actively symptomatic form has long been considered by social scientists a rich arena for studying this relationship between illness and disease. Kleinman (1988), for example, in his seminal work on

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Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003

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illness narratives, examines the many ways that professional categories and understandings of chronic conditions differ from and indeed clash with the illness experiences of those who live with them every day. Frank (1995) extends this work in a direction that (as I note below) is particularly useful for understanding the sociological impact of expanded NBS, arguing that ‘‘Parson’s modernist ‘sick role’ carries the expectation that ill people get well, cease to be patients, and return to their normal obligations’’ (p. 9). But in postmodern times, he contends, the line between ‘‘sick’’ and ‘‘well’’ is much more complex. Frank’s own work focuses in particular on the roles and stories of people who are effectively well, or at least able to function on a day-to-day basis, yet ‘‘could never be considered cured’’ (p. 8). He uses the term ‘‘remission society’’ to describe this group of individuals, along with the family members who share their struggles, and he argues that modernist medicine lacks a story appropriate to describe the experiences of its members. The sociological literature on risk examines yet more complexities in the production of disease categories and illness identities. Medical and public health practices focus more and more on analyzing the inner workings of the asymptomatic body so as to identify and circumvent disease before it is manifest (Cunningham-Burley & Bouton, 2000; Lupton, 2001; Nelkin, 1996; Petersen & Lupton, 1996; Rothstein, 1995). ‘‘All bodies are constructed as ‘at risk’ from one or more conditions or illnesses. [since] all people, whether or not they are experiencing symptoms, may harbor ‘risk factors’ potentially leading to illness’’ (Petersen & Lupton, 1996, p. 48). Screening programs of many kinds – those designed to identify behaviors that correlate with increased disease risk, to find early symptoms of disease, or to reveal genetic mutations associated with genetic disorders – are all part of an intent to identify and control such risks. The experience of knowing that one’s child has a genetic mutation associated with disease became increasingly common for parents as prenatal diagnostic tests were introduced and quickly became the norm beginning more than 20 years ago (Rapp, 2000; Rothman, 1986). Now, with the rapid growth across the United States of NBS for myriad other genetic conditions, mass screening and presymptomatic testing affect ever-larger numbers of parents. More than 4,000,000 babies undergo NBS each year, making it the single most widely utilized form of genetic testing in the United States. The number of conditions tested by NBS is expanding, growing from an average of eight in 2004 to an average of 33 in 2006. Formerly, NBS was limited to conditions for which children could reliably expect to benefit from treatment and for which immediate identification is essential, such as the metabolic disorder phenylketonuria (PKU) which led to the establishment of NBS programs in all 50 states during the 1960s. The lives saved and suffering reduced have been well documented, and their significance for affected families can never be overestimated (Grob, 2006). But the ‘‘new’’ newborn screening in the United States is no longer limited to conditions that are universally treatable. This shift is occurring in several ways: (1) by labeling cases in which genetic abnormalities have

unknown clinical significance as positive screens; (2) by accepting that conditions may merit screening because they benefit parents (reduced anxiety) or society (reduced childbearing by parents at risk of genetic abnormalities; increased opportunities for research on rare disorders) even if there are little or no current treatment benefits for children; (3) by mandating screening at birth for conditions that – unlike PKU and some other metabolic disorders – do not represent an immediate or grave health threat to the infant; and (4) by reporting to parents screening results for untreatable conditions identified as byproducts of screening for treatable conditions, on the grounds that it is paternalistic to withhold this information from them. As asymptomatic babies receive disease labels in greater numbers,1 the relationship between parental knowledge of the child and scientific knowledge of the child – between the experience of genetic disorders as physical illnesses and the experience of them as diagnostic predictions – is shifting again. The parents of children diagnosed via NBS in the United States are a growing subgroup of people who, like members of the ‘‘remission society,’’ are profoundly affected by disease, but do not fit the modernist ‘‘sick’’ role (Konrad, 2003). Parental experience of ‘‘the new NBS’’ also represents a potentially illuminating extension of the way genetic information reshapes both personal and collective self-conceptions in fundamental ways which Nikolas Rose characterizes as ‘‘biocitizenship.’’ Identity, claims Rose, is now structured by the need to ‘‘know and manage the implications of one’s own genome,’’ and collectivities are formed around a ‘‘biological conception of shared identity’’ (Rose, 2006, p. 134). Information about the disease status of one’s child right from birth introduces an arguably different social role heavily mediated by genetic information, changing the conception of what it means to be a good parent and strategies appropriate for enacting that role. The research presented here was designed to elicit firstperson accounts of how NBS programs are actually experienced by parents whose children screen positive for genetic disease but may not be actively symptomatic, and to compare these with accounts from parents whose children received diagnoses after the emergence of symptoms. These interview data suggest that expanded NBS heightens three distinct kinds of disjuncture between illness and disease. First, because this form of disease diagnosis comes so very early and (most often) unexpectedly, it frames parents’ experience of the post-diagnosis period – and of the newborn herself – with particular potency, and in ways that are distinct from the influence of illness on parents’ perceptions of their child and of infancy. Immediate knowledge of the disease affects the early relationship between parent and child, and engenders in the parents a sense of responsibility both for the disorder itself and for protecting the

1 Although there are no precise calculations of how many children may be in this situation, data from a number of studies (e.g., Botkin, 2005; Tarini, Christakis, & Welch, 2006; Waisbren et al., 2003) do demonstrate that a subset of children who test positive for conditions believed to have early onset do not in fact exhibit symptoms until later in life or at all.

Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003

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infant from its impact. Second, early diagnosis of disease increases parents’ susceptibility to medical discourses about the importance of risk – as something to be assiduously assessed in the newborn period, and to be controlled to prevent disease from causing illness. This effort to keep the identified disorder from becoming manifest powerfully shapes the parenting role for those who receive an early diagnosis. Third, parents’ relationship to professional authority appears to vary significantly depending on whether their knowledge of disease (in the form of an early diagnosis) precedes their child’s illness, or vice versa. Study design and methodology The primary data presented in this article were drawn from 35 semi-structured qualitative interviews with parents of children who were diagnosed with cystic fibrosis either via newborn screen; prenatally; or after the development of symptoms. Sixteen of the participating parents received a newborn-screening diagnosis; 4 parents received a prenatal diagnosis for at least one affected child; 4 parents received a diagnosis within a few days or weeks of birth for a symptomatic child; and 11 received a later diagnosis (between ages two months and seven years, with an average age of 31 months) for a symptomatic child or children. Interviews lasted between 1 and 2 h. The sample included 33 mothers and 2 fathers. Thirtyfour participants identified as Caucasian, and 1 as Hispanic. Parent’s ages ranged from 23 to 53, with an average age of 34. Approximately two thirds of those interviewed can be classified as middle class, and one third as working class, based on reported occupational status for all adults in the household. Grounded theory methodology was used in both design of the research and analysis of the interview data, which were recorded and fully transcribed. The study was undertaken with the hypothesis that diagnostic systems matter and have complicated effects on those whose lives they influence, but the overarching themes and specific categories described here emerged inductively from the data, which were then reviewed and re-reviewed (in both their tape-recorded and transcribed formats) to verify ‘‘theoryobservation’’ congruence (Corbin & Strauss, 1990, p. 7). The study was organized specifically around cystic fibrosis for several reasons. First, the data were likely to be more internally consistent, and identifiable themes more evident, if the interviewed parents shared a diagnosis rather than having an array of different disorders. Second, although cystic fibrosis screening in Britain has been underway for 25 years and is nearly universal (Moran, Quirk, Duff, & Brownlee, 2007), it remains a controversial practice in the United States. This is because the age of onset and severity of expression are highly variable (ranging from severely reduced life span to asymptomatic cases); because the condition generally does not pose a grave threat to the infant in the newborn period; and because – at least until recently – the health benefits of early intervention have been contested (Bonham, Downing, & Dalton, 2003; CDC, 2004; Farrell & Farrell, 2003; Grosse, Boyle, Kenneson, Khoury, & Wilfond, 2006; Wilfond & Gollust, 2005). Cystic fibrosis is thus an exemplar of many

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characteristics of the ‘‘new’’ NBS in the United States, with all it augurs for changes in diagnostic experiences for parents. It is also the single condition within this new NBS paradigm that is implemented in a sufficient number of states (33 as of November 2007 (NNSGRC, n.d.)) that an adequate sample size could be obtained. Although debate about cystic fibrosis continues, the tide of professional opinion has turned in favor of screening. The Centers for Disease Control and Prevention (CDC) and the American College of Medical Genetics (ACMG) both released reports favoring screening (ACMG, 2005; CDC, 2004). Notably, however, CF’s rating within the methodology of the ACMG study placed it precisely at the cut-off mark between conditions that warrant universal screening and those that do not, leaving cystic fibrosis screening open to contestation. Finally, with the exception of sickle-cell disease, cystic fibrosis is the most common ‘‘life-shortening. inherited disorder in the United States’’ (CDC, 2004, p. 1), with an overall birth prevalence of one out of every 3700 births. Diagnoses of cystic fibrosis thus offer a rich arena for investigating the relationship between medically defined disease and the actual experience (or lack of experience) of cystic fibrosis by parents of genetically diagnosed children. The next section illustrates the range of such parental experience, depending on when and how the diagnosis is made; and highlights the relationship for parents between what they already know about their child and the meaning of cystic fibrosis when the label is first affixed. From sober confirmation to devastating surprise: the variable role of cystic fibrosis diagnoses in shaping parents’ early experiences with disease and illness Diagnosis of a genetic disorder can mean the longsought answer to the question ‘‘What is wrong with my child?’’ It can mean an unsuspected, unsolicited revelation of invisible chromosomal abnormalities within the body of a healthy, or of a 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 preceded the diagnosis, and what brought parent and child to the point of getting it, profoundly influence its impact. Despite CF’s high prevalence, pediatricians often do not recognize its clinical manifestations in babies and young children. As a result, some families have been coping with a sick child for months or years before a diagnosis is made. Many have felt helpless in the face of their child’s repeated illnesses, apparent failure to thrive, digestive problems, or other symptoms. All too often, parents have also had their observations, suggestions, and concerns dismissed by health-care professionals, and have suffered prolonged ‘‘diagnostic odysseys’’ before finally determining the cause of their children’s suffering (CDC, 2004; Clayton, 1992; Grob, 2006). As one mother in my study whose child had a delayed diagnosis said, ‘‘At the doctor’s office I. would cry every time because he wasn’t gaining [weight]. I think they kind of looked at me like this hysterical firsttime mother, and the doctor whom I kept going to see kept saying ‘Oh he’ll kick in, some babies take a while to

Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003

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kick in.’. That was really hard, being so powerless..’’ Not surprisingly, then, the sadness and fear these parents feel when receiving the cystic fibrosis diagnosis is mixed with tremendous relief. As Annie put it, recalling her son’s diagnosis at age seven, . when we got it I was totally relieved. Even though he had cystic fibrosis and I knew what it was and I knew the outcome of it, it was a relief, because I knew he was gonna be treated correctly. I knew. that I wasn’t crazy, that I wasn’t looking for something to be wrong with him, you know? For these parents, the reality of their child’s suffering has already unavoidably asserted itself, and the idea of a healthy, ‘‘perfect’’ child has already receded – sometimes long since. Illness is a fact of life. What matters now is to find out what the problem is, with the hope that naming the disease will result in improved treatment and health for the child. In Jody’s words, ‘‘We knew that there was something wrong, so tell us what it is and we’ll go forward. [After the diagnosis] we had a name. At least we had something to deal with – it’s better than nothing. We had some understanding of what it was.’’ A positive cystic fibrosis test is confirmation of established suspicions for some parents, but for others, the news arrives unbidden and unexpected, a devastating surprise. Parents who received a positive newborn screen for an infant who had shown no signs of illness were of course least prepared for the presumptive diagnosis, both emotionally and in terms of their knowledge of the testing process and of the disorder itself. For these parents, it is not deterioration in their child’s health that makes their ‘‘world coming crashing down,’’ but rather a phone call from or visit to the doctor’s office. Francesca got the call from her pediatrician’s office when Tess was about a month old. She was asked to come in and discuss the baby’s ‘‘blood work.’’ When the doctor proceeded to inform her that the baby had screened positive for cystic fibrosis and would need further testing, her surprise was absolute. Even when she was born there was nothing. she was born and she was seven pounds eight ounces, just I mean everything seemed perfect. I didn’t know. even now when I think about Tess having cystic fibrosis it’s so weird cause we taped her birth and everything and I look at it and I’m like I don’t get how this happened it was a huge shock I guess, after, to find out she has the CF. Francesca had received little information about newborn screening, and none about CF, at the time the blood was taken from Tess’ heel. Unlike in other countries, where NBS is an informed choice for parents, and midwives generally mediate the screening process during home visits (Hargreaves, Stewart, & Oliver, 2005), in the United States parents are often not even aware that their infant is undergoing NBS (Campbell & Ross, 2004). Francesca’s pediatrician, for example, provided her with only ‘‘a little bit of explanation’’ when he gave her the screening results. She describes the next week, before she went to the cystic

fibrosis clinic for further testing and education, as the ‘‘hardest part,’’ a haze of fear, guilt, sorrow and confusion. ’Til my first clinic I really didn’t know what was truly going on or what was the prognosis or anything. it took me like two days to quit crying. I cried a lot, I mean that, and I slept with her even for nights before I could let her just go back in her own crib and stuff like that because you just want to hold on so tight because you don’t know.. It was like a blaming thing, like what did I do wrong and how is she gonna be with it, you know, [and] is she hurting now? I didn’t know anything about it and I got sent home with a little bit of information but it was like a week later before I had my first clinic.. I was there all by myself and calling like half of [city name] it felt like trying to find somebody that. was home and that could talk.. They told me it was genetics but I didn’t understand what genetics truly meant either so I was like well what did I do and you know what could I have done different.. Suzanne had even less time than Francesca before getting a cystic fibrosis diagnosis for a newborn she thought was just fine. Since she and the baby’s father had both tested positive as carriers for cystic fibrosis during the prenatal period, she had consented before Quinn’s birth to have his cord blood tested immediately. Nevertheless, it came as a surprise to Suzanne when the test results came back on Quinn’s fourth day. Aside from some iatrogenic problems with his umbilical cord, which kept both her and the baby in the hospital beyond the time at which they might otherwise have been discharged, she had found him relatively healthy since birth. Completely focused on getting to know the baby and enjoying him, her firstborn, she hadn’t been thinking about the test at all. ‘‘It didn’t even occur to me [to think about the cystic fibrosis test] even when the doctor came in to tell me. I think I was more wrapped up in the euphoria of having him.. I didn’t really think about it until he came in and told me.’’ However, once the results were in, Quinn’s identity was immediately transformed from that of a healthy child who could be cared for primarily by his mother to that of a sick child who needed to be treated by the health-care professionals in Suzanne’s hospital setting. ‘‘I had to learn everything about him,’’ she recalls, ‘‘. how to treat him. [I] had to learn the physio and about the enzymes and different medications that he had to take.. It was like starting again really.. It was huge, it was absolutely huge.’’ Learning ‘‘about him’’ becomes, with the test result, a process of learning about cystic fibrosis and learning how to begin preventive treatment – a radically transformed context for early parenting. Her son is no longer treated as just ‘‘a normal baby who you were allowed to hold and try to nurse.’’ Rather, he is a newborn with a genetic disorder, a disease – a baby who requires expert treatment from professionals and whose mother cannot, at first, be entrusted with his care. For most parents, the newborn-screen result and subsequent testing mark the end of their experience of their child as ‘‘normal’’ and the beginning of their life of caring for a child with special health-care needs. For some, however, the ‘‘diagnosis’’ turns out to be a genetic

Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003

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profile without manifest or foreseeable clinical implications. A mutation on the gene known to be associated with cystic fibrosis (the ‘‘CFTR’’ gene) has been identified and the result has been given to the parent, but the child is healthy and will in all likelihood remain so. Margo, a little girl who was two-and-a-half at the time I interviewed her mother, is a child who falls into the latter category. Her mother, Shannon, who just happened to be in her pediatrician’s office when the newborn-screen result came in, had never heard anything about cystic fibrosis before her doctor informed her of the positive screen. ‘‘[Margo was] chunky,’’ she recalls. ‘‘She was over nine pounds at birth, so I mean there was no indicators, you know, I mean visually, you know looking at her there wasn’t anything to. think there was anything wrong with her..’’ Getting the newborn screen was ‘‘very terrifying you know, and I mean you’re sitting there and it’s like you’re holding what you thought was a really healthy baby..’’ Shannon had not explicitly sought out diagnostic testing for her baby, and had no reason to believe anything might be wrong. The positive cystic fibrosis screen brought Shannon – as it had Francesca – abruptly face to face with the contradiction of an abstract test result suggesting that her baby suffers from a serious and potentially fatal genetic disorder, and the very concrete reality of the thriving infant in her arms. Unwittingly, Margo was subject to what Nelkin (1996) calls ‘‘a form of predictive diagnosis.[that] allows the anticipation of problems or conditions that are not necessarily visibly expressed in overt symptoms’’ (p. 539). Shannon’s assumption that her daughter was fine because she nursed well, slept well, looked well was suddenly called into question, the experiential evidence on which a mother bases her sense of her children abruptly invalidated by DNA analysis. Margo’s identity was suddenly reconstructed by her genetic test, which like all genetic tests ‘‘treat[s] molecular signs as more important than behavioral or physical expressions, and allow[s] the classification of people on the basis of biological abstractions’’ (Nelkin, 1996, p. 539). Shannon and her husband left through the back door of the pediatrician’s office that they had entered blithely, from the front, an hour before; it was too overwhelming to contemplate being in public as their ‘‘world came crashing down.’’ Shannon recalls the sorrow, fear, and contradictions that pervaded the time after the screen. The hardest part about that whole time. it’s just knowing that this is something that.could potentially take her life. Having been a mom already, the hard part was that at times I felt like I was scared to fall in love with her because I didn’t know how long I’d have her and so that was the hardest part, because I mean those, those [weeks and months] that we were waiting for the information back, um, I have to say I did look at her a lot and think about it. and it’s hard to look at her and go well. nothing’s wrong with her cause she’s beautiful and she’s, you know, just the epitome of healthy.. [When she was a newborn I wondered] you know, ‘Okay, who are you?’ And then to find this out a week and a half after she’s born, so then that compounded on top of it. I’m trying, now’s the time when I’m supposed to be falling in love with you, but I’m scared to.

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As these data illustrate, diagnosis of genetic disorder during the newborn period is a radically different experience for parents of an affected child than is diagnosis after the emergence of identifiable illness, and also after the parent has got to know the child over a period of weeks, months or years. The particular confluence of the post-partum period, the transition to a parenting role (whether for a first or a subsequent baby), and the shock of an utterly unanticipated diagnosis make the discovery of genetic disease by NBS transformative for early parenting. The following section explores several consequences: its influence on parents’ sense of competence and confidence as caretakers; its impact on parents’ relationship with health professionals; and its introduction of parents to a body of disease literature, though they may not yet have encountered any signs of illness. ‘‘You guys are the doctors’’: professional authority and parental competence after an early diagnosis Getting a genetic diagnosis, and then learning to live with it, are not private family matters. They are public ones, heavily mediated by those who test the baby, give the news, impart instructions, provide education and treatment, answer questions, make referrals, and interpret the meaning of the condition. The disease label and the professionals who affix it are inextricably intertwined, for parents, from the very beginning. When the diagnosis comes early, before the parents know the infant themselves, no substantial parental expertise has yet been developed. The baby is brand new, and even learning how to care for her in the absence of any identified health issues – particularly if she is a first child – can feel overwhelming. When diagnosis of a serious disease is added into the newborn picture, parents themselves feel even less qualified to be in charge of the infant than they did before. At that crucial and vulnerable moment, parents see professionals – who made an unsuspected diagnosis by conducting a screening test about which most parents were unaware – as the ones best positioned to understand the situation and chart a course of action. As one mother describes it: Well, I would say in the very beginning [when we got the NBS diagnosis]. me and my husband, we were both kind of like what do you [doctors] want to do, what do you think we should do, what do you think is best? You guys are the doctors, you know. Contact with health-care providers is now experienced by parents as a vital connection to expertise, to advice, to reassurance, to instructions. Unsure about whether the infant is okay, about whether the presence of disease means immediate illness, and about whether their own care-giving techniques are adequate, they contact professionals often, looking for help. For Francesca, the fear after the positive screen and subsequent confirmatory test was intense, unremitting. ‘‘Once I found out that she possibly could have the CF, I called so many times in the middle of the night. I’m like ‘Oh my god, she’s breathing really heavy, I don’t know if

Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003

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this is right..’ There was just a lot of follow-up that came from the hospital that helped.’’ Paige had a similar need for help from professionals, a similar reliance on them for guidance in caring for a baby that the diagnosis had made suddenly strange and vulnerable – a baby whom she could no longer know based on observation alone. But for her, the process of getting assistance was complicated by her sense that her healthcare providers regarded her as overly needy. What was hard I think in the beginning [was] being new as a parent for one and not knowing what was normal for children. and then dealing with the disease, the health care.. The people in health care were somewhat hard to deal with, because I sometimes would get the feeling that I’m a little pain in their ass, excuse my language.because I would call a lot because I didn’t know, because I was so scared, because there was such a fear.. I would call the nurse a lot and say ‘I don’t know if this normal or not, this doesn’t seem right.’ With time, parents of children with health problems develop expertise about their child’s condition; many become confident and assertive advocates (Grob, 2006; Leff & Walizer, 1992). As one parent put it, In the beginning, everything that any doctor ever had to say was gospel. You took that to be the truth, you took that to be the absolute answer. You did not question, that’s just the way it was. It took a long time. to get an education within myself. that I needed to question some of the stuff that was going on.. Now I’m not above calling and telling anyone what I think about them or their assessment of my child.. I’m not afraid to ask for what I think Rose needs, and I think that I have certainly evolved in that respect. However, it is clear that during the immediate post-diagnosis period parents perceive the locus of control over their child to lie with professionals. As Joan says, ‘‘I remember thinking, ‘I can’t believe they are going to let her come home with us, at the clinic. We have no idea how to take care of her. I can’t believe they are going to let us walk out of the door with her.’’’ She had, of course, already walked out the door with her newborn when she was discharged from the hospital after birth, had taken her home and cared for her just fine. But once they got the diagnosis, .it just seemed like everything changed.. It was like there is so much more now to taking care of her, and are we really fit to do that?.. [I]t was just so overwhelming. I mean the first time we went to the clinic they were like well, you have to do this and this. And we met with nutritionists, respiratory therapists and pulmonologists and social workers and you know it was just all so overwhelming, all this stuff we were going to have to do. I remember leaving there thinking ‘how am I going to do all this stuff in one day?’ In contrast, parents of children who manifested illness before obtaining a disease diagnosis, and who were older at the time of diagnosis, evinced substantially more confidence in interactions with professionals, and were

already more assertive advocates. These parents’ experience of NBS suggests that one of its effects, for children who are not already symptomatic, is to extend the medicalization of birth into the newborn period. In the United States birth has long been considered a medical problem that must be managed by health-care professionals in medical settings: 99% of babies are born in hospitals (Curtin & Park, 1999). In this environment, obstetrical specialists structure the birth experience, then pediatricians step in to structure the newborns’ care. The baby officially belongs to her parents, yet remains predominantly in the care of the medical staff. She is subject to their rules, schedules, routines, and diagnostics – including NBS tests to determine genetic abnormalities that might, according to the medical orthodoxy, require additional immediate medical interventions. NBS as it is currently practiced in the United States is not a parent-driven process. Only three states require informed consent prior to carrying out the screen, and most often parents don’t even realize the infant’s heel blood is being taken for screening – or if they do, they understand it only vaguely. And most often, the child with a positive screen for cystic fibrosis is not actively ill in those first days or weeks. She may be entirely without symptoms, or she may be showing some early signs of digestive problems. But in almost all cases she’s not in a medical crisis, and thus is relinquished from the hospital into the care of her parents, who begin learning what it means truly to be in charge of their new baby. Yet when the infant, already at home, is found to have a positive screen, the health-care establishment once again asserts its dominance over the fragile new family dynamic by remanding parents to a role of simple compliance with professional instructions. In the words of New York State’s NBS pamphlet, the parents’ job is to ‘‘make it easier for the doctor to help the baby.’’ What parents confront when there is a positive screen, then, is a specific and new form of medicalization, that process by which ‘‘medical interpretations of conditions. acquire cultural legitimacy. [and] become the dominant frame for understanding a large range of. human problems’’ (Litt, 2000, pp. 4–5). The very fact of the NBS test declares the importance professionals attach to finding out about and addressing even unexpressed genetic disorders as early as possible in infancy. But from the perspective of the parents, they receive this diagnosis at a time when they are just finding out for themselves how to care for their baby. Now they must learn from their doctors what to look for and see in the child – how to recognize, forestall and address symptoms; how to minimize the impact of cystic fibrosis to the extent possible; how, in essence, to ‘‘parent in the genomic age,’’ when part of having a new baby is knowing about and responding to her genetic endowment and to the disease label she may receive before any sign of illness has yet emerged. Abstract disease and concrete health: the power of medical information to shape parental experience How information about cystic fibrosis flows between parents and providers is a critical aspect of the postdiagnosis period. Parents’ preferences about what and

Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003

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how they want to learn about cystic fibrosis reveals much about how they choose to position themselves with respect both to medically defined disease and to experientially derived knowledge of their child and of his illness or health. Although physicians and cystic fibrosis specialty centers in the United States tend to apply a generic approach to educating families, parents do not in fact all want the same amount or kind of information. For some parents, no matter how they have discovered their child has CF, it is critical to learn immediately absolutely everything there is to know, every detail, fact and statistic, no matter how sobering. ‘‘Give me it all; I want to know every possible [detail],’’ said one parent. Another parent described her thirst for medical details and statistical information like this: I’m the kind of person, I’m really proactive, so if I find out about a problem or an issue I want to dive into it and figure out what’s the best way to do this, or what should we do? So I want all the information I can get.. I don’t just want to be clueless and think, ‘Oh she’ll be fine, she’ll beat the odds.’ I want to know the dirty truth. I want to know what these people [with CF] go through so that I know how I can prepare myself and how I can prepare Alexandra. For these parents, it is infuriating when professionals try to ‘‘shield’’ or ‘‘protect’’ them by withholding information or meting it out slowly. As Andrea put it, ‘‘One problem I have with some doctors is that they talk down to you and don’t explain things thoroughly.’’ This form of condescension breeds mistrust of providers. Other parents, however, pace themselves differently when it comes to learning about cystic fibrosis and what it means for their own family. For these parents, a ‘‘one day at a time’’ approach is much more comfortable, because the phased accumulation of information gives them time to assimilate little by little – time to get used to general ideas and feel competent to judge their relevance for their own child, time to separate out generic predictions about disease from personally relevant information about preventive regimes and emerging symptoms (if any). ‘‘They had some handouts and things. as far as treatment and dietary concerns, you know,’’ said one mother. But ‘‘there was just too much at that time to absorb, so we [would] look at it a little bit [at a time]..’’ These mothers, like three out of four in Collins, Halliday, Kahler, and Williamson (2001)’s study of parents’ experiences with genetic counseling after the birth of a baby with CF, found themselves struggling with ‘‘information overload’’ – altogether ‘‘[too] much information to absorb in a short time as well as coming to terms with the diagnosis’’ (p. 59). For many mothers, what is hardest to absorb, and what they don’t want to be forced to confront as a bald, statistical representation of their own child’s possible future, are data about life expectancy and descriptions of the ‘‘natural history and progression’’ of the disease. They know, of course, that this information exists, and they may even have encountered it on the Internet or elsewhere. But they do not want it held in front of them, do not want it to serve as some sort of absolute foreknowledge of their own children’s fate or ‘‘crystal ball predictions of what our children

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won’t be able to do’’ (parent as quoted in Leff & Walizer, 1992, p. 93). As Suzanne put it: We had one doctor. and we walked into the room and she sat down and we sat down and she said, ‘Having cystic fibrosis is not a good prognosis.’ And I sort of thought ‘I don’t really need to hear this. I’m well aware of what it does.’ I didn’t really think that was very thoughtful to say to someone while holding their new baby.. This one doctor. could be quite callous. And not really think about how you might be feeling as a parent.. [What I needed was] the basics for the moment. You can find out everything else as you go along. It’s not necessary to know everything right from the start. Parents who pace themselves in learning about the disease are not in unhealthy ‘‘denial.’’ Nor are they looking for paternalistic providers who protect parents by deciding what information to give and what to withhold. Rather, they believe it should be the parents who determine how information is shared, not the providers. They want to choose for themselves how much to be guided by medically defined disease, and how much to wait and see just what kind of illness cystic fibrosis might be for their own child. Facing disease, encountering illness: the complex relationship between stated policy preferences and personal testing choices Perhaps the ultimate barometer of what information parents really most want, and when, is how they proceed when given explicit choices about testing – that is, when they must take action to have their child tested rather than either give consent to a routine, recommended procedure, or raise an active objection to or critique of a mandatory one. Other researchers have documented the common discrepancy that exists between hypothetical and actual ‘‘uptake’’ of predictive tests for adult onset disorders – an example of genetic testing far easier to study than NBS, since NBS is by definition either a mandatory program or (in 3 of 50 U.S. states) a routine procedure for which consent is sought. For example, about three quarters of surveyed families at known risk for Huntington’s disease indicated they would want to be tested for the condition despite the fact that no effective treatment exists (Kessler, Field, Worth, & Mosbarger, 1987). However, only about 10–20% actually come forward to be tested, and of these, a significant number may be using the test to confirm their own suspicion that they are beginning to have symptoms or that they are free of the gene because they are past the usual age of first onset (Campbell & Ross, 2003; Richards, 1993). In the case of NBS, survey and focus group research shows that parents enthusiastically support a policy of expanded screening (Al-Jader, Goodchild, Ryley, & Harper, 1990; Campbell & Ross, 2003; Quinlivan & Suriadi, 2006; Skinner, Sparkman, & Bailey, 2003). This was true as well for the parents in this NBS study, who stated that they support NBS for cystic fibrosis as a matter of policy, and that it should be expanded to other states (although some also noted specific reservations). Yet these data also demonstrate that parents’ personal attitudes toward such tests

Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003

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are complex and ambivalent. Some wish they had had more time before the diagnosis, and almost all wish the NBS process had been designed with more parental input and support (Grob, 2006). Others say they think NBS is a good and important thing, yet they themselves choose – when choice is an option – to wait a while before pursuing testing for a subsequent child, one born after the diagnosis of cystic fibrosis in an older sibling. Six mothers in the study went on to have another child after cystic fibrosis was a known genetic risk in the family. None of them had any intention to abort. Three got fetal diagnoses (one positive, two negative). One opted for carrier testing, but ultimately found out the new baby’s cystic fibrosis status by waiting for return of the NBS test that is mandatory in their state. The remaining two mothers lived in states that did not yet mandate cystic fibrosis as part of their NBS panel. These mothers did not do prenatal testing, nor did they test the infant immediately at birth. Both were very anxious about whether the child was affected. But they waited to do the actual test until they had known the child for a number of months (four in one case, and as many as eight in the other). In both cases, by the time the test was done, the mothers had a clear sense based on observation and experience of what the result would be. As one of these mothers put it, she decided to just watch for and treat her son’s symptoms were they to emerge – to ‘‘treat how he presents’’ rather than labeling him right away at birth, and then to use the test itself to confirm what she already knew, what she had learned little by little from parenting her child. Many people embrace diagnostic technology and use it to gather information, to make decisions, to prepare psychologically for what will be coming next. But some people choose to find things out in other ways. They learn by observation and experience, and want to protect themselves from the bluntness of a test. A black-and-white indicator of ‘‘yes’’ or ‘‘no’’ – a direct confrontation with disease in the absence of any sign of illness – may be too harsh for some. This study thus suggests that when it is a matter of volition, of active acquisition of a diagnosis rather than passive assent to or acceptance of a procedure, immediate testing even for those children known to be at risk for cystic fibrosis is not desired by a substantial subset of families. Additional research is needed to explore this important phenomenon, and to build on research exploring the difference between consenting to testing for oneself and consenting to testing for one’s child (Campbell & Ross, 2003). Conclusion The particular kinds of disjuncture between illness and disease highlighted by NBS are hardly theoretical matters for parents who experience them. During the first weeks and months of a genetically diagnosed child’s life, the course of illness remains unknown and, for the time being, unknowable. However, once the parent is aware that the genetic mutation lies within her child’s body, it becomes impossible for the identified disease not to impinge on the life of child and family, even if no symptoms are manifest. As Conrad and Schneider (1992) point out, affixing

a disease diagnosis ‘‘in human society has consequences independent of the effects on the biological condition of the organism.. Medical diagnosis affects people’s behavior, attitudes they take toward themselves, and attitudes others take toward them’’ (p. 31). As this paper has illustrated, affixing a disease diagnosis through NBS has specific and potent consequences. It deeply affects parents’ feeling of competence to care for their newborn and their sense of who the child is. It causes health professionals to loom large in the family’s life at this formative time. Finally, it places the disease – rather than the process of ‘‘falling in love with’’ the new baby – at center stage during the child’s early months. These final findings distinguish this study from other, more clinically focused research on NBS, which seeks to determine whether NBS induces long-term effects on parents’ anxiety or parent–child bonding (Al-Jader et al., 1990). This research highlights a different aspect of the issue – i.e., the residual sorrow, guilt, and regret that parents feel as a result of having ever kept at a remove from children to whom they are now so passionately committed. The fact that each and every parent in this study found ways, over time, to significantly connect with her child does not mean that the bonding issues precipitated by an early diagnosis weren’t both devastating in the short-run, and resonant over a longer period of time. With newborn genetic screening expanding rapidly, we can expect that the newborn period will be significantly altered in these ways for a growing number of families. The first NBS programs had a clear primary purpose: to identify an early-onset condition (phenylketonuria) that is in fact treatable – i.e., to directly improve children’s health. However, as the criteria for adding new mutations to U.S. screening panels shift and increasing numbers of infants are diagnosed with later-onset conditions, conditions with highly variable forms of expression, and conditions with no proven treatment, we are creating an ever-larger group of parents who face at-birth diagnosis of a well or seemingly well infant. These parents, uneasily awaiting the arrival of symptoms even as they strive valiantly to forestall or prevent them, represent a new and growing constituency within Frank’s remission society: a group of well adults whose identity as parents, and whose experience of parenthood, are heavily mediated by unsought-for knowledge of their child’s genetic disorder and accompanying fear about its meaning for the child’s health. These parents also represent a new manifestation of how risk discourse can structure human experience – i.e., by altering the way parents come to know and to care for their newborn babies, and reframing the role health-care providers play in this process. As parents struggle to create their own forms of meaning in situations where they’ve been told their apparently healthy child is sick, medical providers, NBS systems, and policy-makers must also institute changes. The study presented here can usefully contribute to this process in two distinct yet interconnected ways. First, parents’ experiences, and their explicit suggestions, highlight meaningful improvements that can be made in NBS practices. To cite a few: parents in this study indicated that they need providers to respect their own way of differentiating between disease and illness by asking

Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003

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them how much information they want about the typical (but not necessarily applicable) course of the diagnosed condition. These parents’ experiences also illustrate in bold relief the costs – in self-blame, confusion, and unnecessary suffering – of testing without educating parents about the process during the prenatal period or obtaining their consent. Parents’ responses to NBS also suggest that a significant subset would vastly prefer, if there were no serious health consequences for their child, that the timing of screening to be delayed – even if just by two or three months – from the immediate post-birth period when everything already feels overwhelming and when that crucial first act of bonding with the child needs protected space to unfold (Grob, 2006). Second, this study highlights the need for similar qualitative research to be expanded and for its findings to be considered in NBS policy debates. Those who develop state NBS policy have been significantly influenced by the emotional appeals of a small group of parents – mostly those whose children have been saved, or could have been saved, by NBS for early-onset, treatable conditions. These parents advocate for ever-expanding screening in a policy environment where doing so seems to have few political costs and many public relations benefits. A qualitative, narrative perspective on NBS issues can better alert policy-makers to the social costs NBS engenders. At the same time, it highlights the need to include the voices of a broader range of parents – i.e., all parents whose children undergo NBS – in decisions about expanded NBS. As the number of conditions on U.S. NBS panels expands at breakneck speed, it becomes ever more crucial that the policy process includes the perspectives of all parents for whom the rich experience of caring for a newborn is haunted by the specter of disease. Acknowledgments The author wishes to acknowledge funding from the Robert Wood Johnson Foundation’s program, the Investigator Awards in Health Policy Research. References Al-Jader, L. N., Goodchild, M. C., Ryley, H. C., & Harper, P. S. (1990). Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis. Clinical Genetics, 38(6), 460–465. American College of Medical Genetics (ACMG). (2005). Newborn screening: Toward a uniform screening panel and system. HRSA commissioned report. Available from. http://www.mchb.hrsa.gov/screening/ summary.htm. Bonham, J., Downing, M., & Dalton, A. (2003, November). Screening for cystic fibrosis: the practice and the debate. European Journal of Pediatrics, 162, S42–S45. Botkin, J. R. (2005). Research for newborn screening: developing a national framework. Pediatrics, 116(4), 862–871. Campbell, E., & Ross, L. F. (2003). Parental attitudes regarding newborn screening of PKU and DMD. American Journal of Medical Genetics, 120A(2), 209–214. Campbell, E. D., & Ross, L. F. (2004). Incorporating newborn screening into prenatal care. American Journal of Obstetrics and Gynecology, 190(4), 876. Centers for Disease Control and Prevention. (2004). Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recommendations and Reports, 53(RR-13), 1–36. Clayton, E. W. (1992). Symposium: legal and ethical issues raised by Human Genome Project, screening and treatment of newborns. Houston Law Review, 29, 85–148.

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Please cite this article in press as: Grob, R., Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening, Social Science & Medicine (2008), doi:10.1016/j.socscimed.2008.06.003