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Growth is a particularly important domain of assessment for children with metabolic disorders because enzymatic defi ciencies and attendant di- etary restrictions can lead to growth impairments. Consequently, normal development supported an optimistic view of what abnormal newborn screening results might mean for a particular child. At the same time, the possibility of disease sparked by abnormal results attuned parents and ge- neticists to the likelihood of problems. Thus, ordinary signs of slower de- velopment could transform quite easily into putative symptoms. Whether a child with developmental delays was simply developing slowly or af- fected by a serious metabolic disorder had important consequences for the type of future that parents could envision for their children.2

The question of whether a baby was “normal” was one that faced all of the parents in our study. Indeed, one might argue that all parents ask themselves this question at one point or another—although the stakes are obviously higher for parents whose children have been identifi ed with a genetic disorder. In the great majority of cases we witnessed, geneti- cists aimed from the outset to assuage parental concerns and to provide reassurance that a newborn screening patient would indeed grow up to be a normal child. This strategy occasionally produced ambiguous assess- ments such as: “He turns out to be totally normal. Except for if he gets sick.” Generally speaking, however, the clinic staff emphasized that new- born screening patients should be treated like normal children most of the time. As Dr. Flores explained to one family, “So, if she is sick, you must make sure that if she’s not eating and she is vomiting, you must take her to the hospital so that she receives calories. Apart from that, the rest of the time you should treat her as a normal baby. She doesn’t need a special diet or anything like it.” Likewise, Dr. Malvern told a couple that if their baby became ill and did not want to eat, “it’s just a matter of making sure she gets some sugar. But otherwise you can treat her like a normal kid.”3

In contrast, for the small but signifi cant number of children who had al- ready been symptomatic, geneticists sought instead to subtly alert parents to the likelihood of future dangers. Geneticists’ routine developmental assessments thus offered parents a window onto their children’s normal- ity, enabling them to realign discrepancies between the shocking news of a child’s newborn screening results, the child’s present health, and future expectations. By calibrating parental expectations in key prognostic do- mains, geneticists made judgments not only about the nature of disease but also about the idea of the normal child.

historical perspective, we provide an overview of the structure of clinic appointments. Next, we turn to a series of clinical conversations about growth and development to consider two dimensions of the normalization process. First, we illustrate how normalization occurred through the im- plementation of objective developmental standards. Here, normalization refers to the social processes by which individuals and populations are subjected to regulation via statistical norms.4 _{Geneticists, like other pe-}

diatric specialists, routinely employed three normalization techniques to foster a sense of objective normality: parental reports about developmen- tal milestones, infant growth charts, and the physical examination. Draw- ing on key work in the history of science,5 _{we show how each of these nor-}

malizing techniques corresponds with a different type of objectivity. If the techniques of normalizing objectivity were designed to illuminate children’s current health status in light of the past shocking news of posi- tive newborn screening results, the second dimension of normalization that we explore concerns its capacity to convey prognostic information about the child’s future in light of present indicators. From this perspective, nor- malization relayed moral assessments about the kind of life a child might be expected to lead, and thus performed important foreshadowing work. Normalization in this sense was not only part of a scientifi c clinical prac- tice but also part of an everyday strategy of making sense of uncertainty.

The Very Idea of the Normal Child6

Notwithstanding a number of important conceptual challenges from dis- ability scholars, contemporary popular wisdom suggests that every parent, regardless of culture or national background, desires a “normal” child.7

Despite its implied universality and normative power, however, the con- cept of the normal child has emerged only relatively recently. In a care- fully researched work, philosopher James Wong traced the appearance of the concept of the normal child to a series of cultural and historical trans- formations beginning in the late nineteenth century that established child- hood as a privileged period of human existence.8 _{Social and economic}

changes in the United States and Europe during this time increasingly ren- dered children a distinctive demographic group with unique needs (e.g., nutrition, schooling, restriction from work), thereby transforming their so- cietal position. At the same time, the fi eld of statistics emerged as a means of organizing kinds of people within a comparative social framework.9 _To-

gether, these developments constituted the conditions of possibility for a new social category: the normal child.

In late nineteenth- century industrializing countries, increasing public awareness of high infant mortality rates accompanied a growing societal emphasis on the protection of the child.10 _{With children’s health a mount-}

ing social concern, new forms of knowledge about children began to ap- pear. Anthropometric studies during the 1870s and 1880s had already pro- vided a great deal of information about children’s height and weight. In tandem with public health efforts toward primary disease prevention and the emergence of pediatrics as a specialized fi eld of medicine, the growth chart became the key apparatus for tracking infants in the early twentieth century. During this time, public health interventions provided new op- portunities for monitoring populations. For example, historians have ob- served how milk depots set up to distribute milk to mothers in urban areas served multiple purposes: they supplied infants with necessary nutrition while also providing a venue for medical exams, regular weigh- ins, and education.11 _{The introduction of compulsory schooling similarly fueled the}

growing trend toward surveillance by gathering children in a single geo- graphic location to monitor their growth and competencies.12 _{Such public}

health measures expanded the domain of growth charts beyond the physi- cian’s offi ce and put all children, healthy or sick, under the medical gaze.13

As a normalization technique, this surveillance enabled the initial estab- lishment of a set of standards for child growth and development. Thus, as the eminent philosopher of science Georges Canguilhem has argued, norms follow normalization.14

Sociologist Nikolas Rose has observed that before the twentieth cen- tury, “it was by no means self- evident that a systematic knowledge of childhood should be grounded in the notion that their attributes should be linked along the dimension of time in a unifi ed sequence.”15 _{The infant}

growth chart posited an explicit link between growth and temporality. This link was concretized in the disciplinary dogma of developmental psychol- ogy, which views human growth and psychological development as linear processes that unfold through specifi c, progressive phases.16 _Furthermore,

the notion of “age- appropriateness” suggests that such phases ideally occur at specifi c ages.17 _{Normality is thus mapped through time, with chil-}

dren expected to attain certain capacities at appropriate intervals. The stage model of human development has generated a spate of popular lit- erature—from Dr. Spock’s baby books to What to Expect When You’re

Expecting—that has played an important role in American culture and

Some scholars view normalization as an insidious process that pathol- ogizes children who do not conform to standardized models.18 _{Such cri-}

tiques recognize that concepts such as age- appropriateness are informed by specifi c knowledge practices that reduce a complex process like human development to simple outcomes.19 _{Biological anthropologists have like-}

wise observed that growth curves are rather poor indicators of infant health.20 _{Growth charts may provoke unnecessary anxiety when children}

quite literally do not measure up. Moreover, as we will show, the practice of growth monitoring enlists mothers to perform the work of surveillance, rendering them morally accountable when children fall short of develop- mental standards.21

Yet beyond providing repressive mechanisms of social control, nor- malization offers a new kind of social order that is rife with opportuni- ties as well as challenges. Normalization performs a greater social func- tion than objectifi cation and measurement. Ian Hacking and others have observed that beyond its statistical connotations, the idea of normality is frequently used to close the gap between “is” and “ought,” and hence contains a moral quality.22 _{Therefore, it enables crucial interpretive work}

about children’s possible futures and provides a semiotic framework for addressing questions of social difference and exclusion. From this per- spective, normalization is a site that affords creative possibilities in addi- tion to regulatory constraints.

It is against this historical backdrop that we must begin to understand the experience of families with children who are “genetically abnormal.” Of course, as Nikolas Rose has suggested, at the genomic level, none of us are normal: there is no “normal genome,” only a complex array of risk statistics that aggregated, mean very little.23 _{Like Rose, we recognize that}

the concept of genetic normality is elusive. But even elusive concepts can have signifi cant social effects. Thus, we are not convinced that his articula- tion of a “pathology without normality” in which “variation is the norm”24

claims much explanatory purchase with families dealing with the ramifi - cations of genetic disorders in their day- to- day lives.25 _{Rose’s assessment}

seems to characterize molecular knowledge of the human species more appropriately than it does people diagnosed with genetic conditions, for whom the specifi city of genetic variation matters greatly. The moral im- perative to have a normal child lives on within Western society’s cultural imaginary,26 _{even if the molecular gaze of genetic technologies has com-}

plicated what, precisely, it means to be normal.

We will demonstrate in this chapter that parents of newborn screening patients were preoccupied with, and perplexed by, the issue of normality.

Once a positive newborn screen raised suspicion of a metabolic disorder, multiple aspects of a growing infant’s life offered a window onto his or her normality. As we will show, the geneticists relied upon normalization to arbitrate biomedical uncertainty. In doing so, they reinforced the cultural signifi cance attached to the very idea of the normal child. Rather than simply locking children into constraining models of ideal growth, how- ever, the category of the normal child also enabled certain actions and opportunities, preparing families for many unknowns.

Coming to the Genetics Clinic

Parents of newborn screening patients anticipated their children’s return visits to the genetics clinic with a sense of benign resignation, at best. Many admitted to us that they actively dreaded coming to the clinic. The geneticists often ran behind schedule, leaving families sitting for long pe- riods in a crowded waiting room full of screaming children. The waiting room, a borderland space between the clinic and the outside world, was fraught with palpable tension,27 _{and the fact that families had been re-}

ferred to a prestigious academic medical center made the child’s medical situation seem all the more grave. Looking around while they waited, sur- rounded by patients who suffered more visible signs of disease, the par- ents of newborn screening patients were often unsure what to expect for their own children—whether they, too, might be wheelchair bound one day, or rely upon the assistance of a nursing aide. As one father told us, “You’re so concerned with your child and you go and you have to see what the outcome might be and it is completely devastating.”

Eventually, a nurse would call the family into a room where the pa- tient’s vital signs and height and weight measurements were collected. Then, the nurse would lead them into a tiny consultation room to wait for the doctor. Although air- conditioned, these rooms became stuffy when crowded with several family members—often toting strollers, diaper bags, and older siblings—and the genetics staff, with their entourage of medical students and fellows, not to mention nosy ethnographers, who did their best to take up as little space, and air, as possible.

After asking for an update on any illnesses or signifi cant events that had occurred since the last meeting, the geneticists engaged in three forms of developmental assessment. First, they typically began clinical consulta- tions by asking parents to report on what the child could do. For example:

Can she hold up her head? Does he roll over? The informal, conversa- tional tone of this line of questioning helped to establish rapport by dem- onstrating the geneticist’s interest in matters that were not, on the surface, strictly clinical, while also providing a window onto the child’s typical ac- tivities and behavior.

Next, the geneticists plotted the child’s weight, height, and head circum- ference on the standardized infant growth charts that are widely available in pediatric clinics. While monitoring growth is important in any pediatric setting, it is particularly critical for children with metabolic disorders, who often experience stunted growth due to the challenge of getting essential dietary nutrients. Like routine questions about developmental progress, growth charts helped to construct children’s normality by aligning indi- vidual children with standardized norms. Finally, the third form of assess- ment consisted of a general pediatric physical examination, during which the geneticists checked major organs and assessed the child’s cognitive and motor development.

The visit would conclude with a discussion of any changes to the treat- ment plan. If no problems were apparent, interactions with geneticists at follow- up appointments were often quite brief. After the geneticist left the room, the dietitian counseled families about any special dietary mea- sures, and when necessary, a staff social worker offered assistance with reimbursement from state insurance agencies and connected families to social services that they might qualify for as a result of their child’s health issues. The appointment would typically end with a visit to the hospital laboratory for a blood draw, where the family would often encounter an- other long wait. Upon leaving the hospital, the family was almost certain to encounter terrible rush hour traffi c, since patients were only seen in the afternoon hours, and rush hour began soon after lunch. Some patients traveled from many hours away to attend the clinic, due to the rarity of metabolic disorders, including some families from as far away as Arizona, Hawaii, or Nevada, where fewer genetic specialists were available.

Because the actual time spent with the geneticist was rather short, par- ticularly in relation to the time spent traveling to the clinic and waiting once there, some parents found their clinic visits to be frustrating. This was particularly the case when checkups elicited a positive report. One mother told us that she could just as easily call in with her daughter’s height and weight measurements and receive the same benefi t. Another couple, whose daughter with MCADD was discharged from the clinic when she was two years old, reported that their appointments had been a waste of time.

Paradoxically, however, it was the mundane, business- as- usual nature of these pediatric interactions that helped to persuade parents to relin- quish their anxieties about the alarming screening results. The sense that the genetics visits were unnecessary demonstrated the genetics staff’s abil- ity to establish a sense of normalcy through subtle repertoires of reassur- ance. Growth monitoring and developmental assessments marked an im- portant starting point for accomplishing such reassurances and portraying newborn screening patients as “normal” babies. Yet there was a point of diminishing returns for liberal reassurances. Some degree of caution was necessary to motivate parents to return to the clinic consistently and to ensure that they followed clinical recommendations. The geneticists had to maintain a delicate balance between reassuring parents and encour- aging vigilance.28 _{As we will show, the balanced tipped toward fostering}

awareness of potential problems as clinical concern escalated for the chil- dren deemed to be most at risk.

Normalizing Babies through Standardized Norms

When parents brought their children to the genetics clinic for a new- born screening follow- up appointment, there was always a possibility of learning that something was seriously wrong with the child. In this set- ting, then, normalization carried profound urgency. Developmental stan- dards helped physicians to anchor their assessments of children relative to their peers and evaluate how they were doing under conditions of con- siderable uncertainty. We identifi ed three principal arenas for such evalu- ations: responding to parental reports about children’s capabilities, plot- ting the child’s measurements on an infant growth chart, and conducting a physical examination. Here, we show how normalization functioned in each of these domains. In all three of these areas, normalization was an objectifying process that operated through the application of scientifi c judgment. Children were normal if they conformed to established devel- opmental standards. Each normal assessment also contained a negative corollary: saying a child was normal suggested that there was no pathol- ogy. Conversely, the identifi cation of developmental differences suggested that the child was not normal, and that pathology was possible.

In what follows, we show how each domain of clinical assessment— parental report, growth chart, and physical examination—corresponded with a different normalization technique and associated form of objectiv- ity, defi ned broadly as “the ability to know things as they really are.”29 _We

consider these each in turn: narrative objectivity, mechanical objectivity, and disciplinary objectivity.

Narrative Objectivity: Parental Report

Medical history- taking typically involves a set of standardized questions designed to elicit background information as quickly and effi ciently as possible.30 _{The fi rst type of normalizing technique fl owed from such routin-}

ized questions about children’s physical and cognitive abilities during the history- taking period. The opening question was often pitched broadly, such as, what can she do? But this open- ended approach hinged upon a shared stock of institutional knowledge about the type of information that such a question was designed to elicit. In the excerpt below, Dr. Silver man inquires broadly about nine- month- old Nina Campos’s capacities and ob- tains a specifi c, detailed response.

dr. silverman: She’s a year old now? mother: No, gonna be nine months.

dr. silverman: Oh nine months. So what does she do? Does she pull to standing? mother: She’s tried to stand on everything. She crawls.

father: Yes. dr. silverman: Yes.

mother: She’s eating her baby food. She’s teething.