Message in a Bottle

The Making of Fetal Alcohol Syndrome

Janet Golden

• Publisher: Harvard University Press
• Year: 2006
• ISBN:
  9780674263840
• Topic: Medicine
• Subtopic: Health Policy

A generation has passed since a physician first noticed that women who drank heavily while pregnant gave birth to underweight infants with disturbing tell-tale characteristics. Women whose own mothers enjoyed martinis while pregnant now lost sleep over a bowl of rum raisin ice cream. In Message in a Bottle, Janet Golden charts the course of Fetal Alcohol Syndrome (FAS) through the courts, media, medical establishment, and public imagination.Long considered harmless during pregnancy (doctors even administered it intravenously during labor), alcohol, when consumed by pregnant women, increasingly appeared to be a potent teratogen and a pressing public health concern. Some clinicians recommended that women simply moderate alcohol consumption; others, however, claimed that there was no demonstrably safe level for a developing fetus, and called for complete abstinence. Even as the diagnosis gained acceptance and labels appeared on alcoholic beverages warning pregnant women of the danger, FAS began to be de-medicalized in some settings. More and more, FAS emerged in court cases as a viable defense for people charged with serious, even capital, crimes and their claims were rejected.Golden argues that the reaction to FAS was shaped by the struggle over women's relatively new abortion rights and the escalating media frenzy over "crack" babies. It was increasingly used as evidence of the moral decay found within marginalized communities--from inner-city neighborhoods to Indian reservations. With each reframing, FAS became a currency traded by politicians and political commentators, lawyers, public health professionals, and advocates for underrepresented minorities, each pursuing separate aims.

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“We Realized We Were onto Something”: Naming FAS

The call came to David Smith, professor of pediatrics at the University of Washington School of Medicine in Seattle in 1973. Shirley Anderson, a physician who ran the pediatric outpatient department at Harborview Medical Center, the county hospital, asked him to come see eight children, all of whom had been born to alcoholic mothers. Smith went over to the hospital, bringing along his research fellow Kenneth Lyons Jones. Jones recalled the experience clearly: “We walked into this room and there were eight kids, all born to chronic alcoholic women, sitting there. We looked at those eight kids and they were all developmentally delayed, but four of the eight, on examination, looked alike.” They were small in size with flat faces, and they had the small eye slits and drooping eyelids that would eventually be recognized as characteristics of alcohol exposure in the uterus.¹

Jones had completed his pediatric residency and was training under Smith in dysmorphology, defined as “the area of clinical genetics that is concerned with the diagnosis and interpretation of patterns of structural defects.” His training taught him that appearances mean a lot, and also that, while they can be the key to diagnosis, they can be easily overlooked. Malformations such as a cleft lip are easy to recognize. Internal defects such as congenital heart problems are also relatively simple for physicians to diagnose from a medical examination. But infants and children with subtle differences in their features need to be seen by a dysmorphologist, a physician trained to see and interpret the significance of minor abnormalities—those that appear in less than 4 percent of the general population. Clusters of minor malformations occurring in association with one another often signal the existence of an underlying condition: a syndrome.²

To date, hundreds of syndromes have been described and the causes of many of them identified. Some stem from chromosomal abnormalities. Others are inherited disorders. And then there are those caused by environmental agents that damage an embryo or fetus. In the majority of cases—about 60 percent—the etiology of a particular syndrome cannot be determined, and it is possible that these are caused by a combination of factors. While prenatal genetic testing, elective abortion of fetuses with detectable abnormalities, and the avoidance of substances known to cause birth defects may decrease the incidence of particular syndromes within a population, it is not possible to eliminate all risk.³

Pregnancies are events with uncertain endings, and when they end in disappointment parents and physicians invariably ask what went wrong. Sometimes the question arises later, when children appear to be developing abnormally. Smith and Jones asked themselves what was “wrong” with the children they had seen. Four of the eight shared a number of common abnormalities, including growth deficiencies, a small head circumference, and mental deficiencies. Their condition had no name. Smith wrote down the information and then returned with Jones to his office to examine his “unknown” files. For each of the individuals in the files, Smith had listed the three most prominent malformations, along with other information about their personal histories.

Such careful record keeping displayed Smith’s interest in organizing, classifying, and exploring data about birth defects in order to find underlying patterns and causes. A leader in the field of dysmorphology (a term he had coined) before his early death in 1981, Smith trained many eminent clinicians, published numerous articles, and wrote several important books. His reputation for cataloging information very carefully, and for ordering his data with graphs and pictures so that he could refer to them in later investigations, is apparent in his seminal work Recognizable Patterns of Human Malformations, the essential textbook of dysmorphology diagnosis, which he published in 1976. Kenneth Lyons Jones compiled the more recent editions of this work, which now bears the name Smith’s Recognizable Patterns of Human Malformations.⁴

While medical research is often thought of as a laboratory-based enterprise involving experimentation and studies of microscopic bits of material, much of it in fact remains rooted in clinical practice, with the slow accumulation of data and the imaginative leaps that allow physicians finally to connect their observations to a judgment about diagnosis, or treatment. Jones and Smith soon made such a leap. After the examinations at Harborview, they combed Smith’s files for children with the same pattern of abnormalities. They found two. Next, they looked at the mothers’ charts; in both cases the women were described as alcoholics. “We realized we were onto something,” Jones recalled.

Smith left town the next day for a stint as a visiting professor in Akron, Ohio. While there, he asked to see any children born to alcoholic women. The chief resident recalled a recent case and asked the mother to bring in her child. When Smith examined the child, he found the same features that appeared in the other six cases. Now there was a seventh. Back in Seattle, Jones found the eighth: called to examine a baby at Children’s Orthopedic Hospital who had been born to an alcoholic mother, Jones observed the same features he had seen earlier. So within the span of a few days, Smith and Jones had examined eight children, male and female, ranging in age from eleven weeks to four years, representing three different ethnic groups. All of them had the same distinctive facial features, were extremely small, and were developmentally delayed. Most significantly, they had one other common feature: mothers who had abused alcohol during their pregnancies. Smith and Jones concluded that in utero alcohol exposure had somehow caused the physical and developmental problems of these children, or, as a dysmorphologist would put it, they came to believe that alcohol was a teratogen.

The linguistic root of the word teratogen lies in the Greek terata, meaning monstrous formations or births. A number of teratogens were known to physicians by the late twentieth century. These included infections such as syphilis and rubella (German measles), environmental hazards such as ionizing radiation, and certain substances, the most notorious of which was thalidomide. Marketed in the late 1950s as a safe sleeping pill, thalidomide caused children to be born with missing or truncated limbs. Approximately 10,000 children worldwide were born with these birth defects before physicians recognized thalidomide as the agent responsible; the drug was removed from the market in 1961. Thalidomide, a new substance, was quickly identified as a problem because it was, as one physician termed it, “flamboyantly” teratogenic, causing severe deformities in the majority of fetuses exposed at a critical stage of development.⁵

The idea that alcohol could be a teratogen came as a surprise. It had a long history of use and of observations about its possible effects on gestation. Still, researchers knew that tobacco use by pregnant women posed risks to fetuses, and so it was not entirely unbelievable that another agent in common use could prove to be dangerous.

Jones and Smith wrote up their findings, working with two coauthors: Ann Streissguth, a psychologist who did the performance testing of the children and who subsequently became a prizewinning fetal alcohol syndrome researcher, and Christy Ulleland, who, as a pediatric resident at Harborview in 1968, recognized and described the small size, low birth weight, and failure to thrive that characterized the children of alcoholic mothers. While on call one evening, Ulleland had been asked by an obstetrics resident whether she knew anything about the effects of alcohol on an unborn baby, because an alcoholic woman was about to deliver her infant. Ulleland checked the medical literature and found nothing. Her interest was apparently piqued, however, and she continued to study children born to alcoholic women in 1968 and 1969. Ten of the twelve cases she observed during that time were what she called “undergrown,” five had retarded development, and three others were borderline retarded. Their mothers, she noted, were of relatively advanced age, had had a number of pregnancies, and only four of the twelve had received prenatal care. In a 1972 article, she concluded: “Chronic alcoholism” had to be “added to the list of maternal factors that create an unhealthy intrauterine environment for the developing fetus; the consequences of which may be lifelong.” Her patients were the children Jones and Smith would later examine at Harborview.⁶

Jones and Smith mailed their article to the British journal Lancet, one of the most prestigious medical journals in the world. The vast majority of articles submitted to academic journals are rejected. Those that are accepted typically have to be revised in response to peer reviewers’ comments, and the revised version, in turn, may be sent back to the reviewers for approval before an article is finally accepted for publication. After that, it may be many months before the article appears in print. The article from Seattle, which the authors titled “Pattern of Malformation in Offspring of Chronic Alcoholic Mothers,” apparently did not undergo this process. News of its acceptance came within a week, presumably because Lancet’s editors recognized its importance. It appeared on 9 June 1973.⁷

Five months later Jones and Smith published a second article in Lancet in which they described three more children, also born to alcoholic women, who displayed the cluster of abnormalities described earlier. They also discussed earlier descriptions of alcohol-related birth defects, including an 1834 report to the British House of Commons in which the children of women inebriates were said to have “a starved, shriveled and imperfect look”—a description more evocative but less clinically precise than their own. In this article, Jones and Smith named the particular pattern of abnormalities seen in the eleven youngsters the “fetal alcohol syndrome.” They had created a diagnosis.⁸

The term fetal alcohol syndrome is now in common use, and its abbreviation, FAS, is employed by the public as well as the medical community. FAS is defined and described in medical textbooks and in educational materials for secondary school classrooms. It is discussed in the pages of popular magazines, referred to in newspaper articles, and mentioned on television news and entertainment shows. Pregnant women who obtain prenatal care are now routinely asked about their drinking habits, and information about FAS is distributed in the waiting rooms of obstetricians. Since 1989, all alcoholic beverages sold in the United States have carried a federally mandated warning label that includes the statement: “Women should not drink alcoholic beverages during pregnancy because of the risks of birth defects.”

Syndromes are sometimes named for their discoverers or for those who offered the first major clinical description. The commonly recognized Down’s syndrome, for example, is named for the English physician J. Langdon H. Down, who in 1866 described the condition that now bears his name. Syndromes caused by teratogens, however, are more typically named for their causal agent. Yet even if this naming tradition for teratogens had been ignored, FAS would not have been termed Ulleland syndrome or Jones-Smith syndrome. It would have been called Lemoine syndrome, for the lead author of a 1968 article in a French medical journal that described 127 children born to 69 alcoholic families. Those children, whose mothers were alcoholics, had the same appearance and deformities as the children Jones and Smith would describe in their articles five years later. Paul Lemoine, the pediatrician who first observed the abnormalities in infants with alcoholic mothers, presented his work at a professional meeting, published his findings, and made a point of teaching his students about alcohol-affected infants and children. He acknowledged that other French researchers had also suspected the damaging effects of maternal alcoholism.⁹

Jones learned about Lemoine’s findings while attending the Fourth International Conference on Birth Defects, just a few months after his own coauthored publication appeared. He recalled that it was Widukind Lenz, one of the discoverers of thalidomide teratogenesis, who informed him of Lemoine’s article. After returning to Seattle, Jones wrote to Lemoine and received a long letter in reply. Lemoine told him that when he presented his data to his French colleagues in 1968, none of them believed him, and according to Jones, Lemoine added “They don’t believe me to this day.” Jones and Smith did believe him, and they cited his work in their subsequent publications. When FAS gained credibility, Lemoine recalled being able to finally indulge, as he put it, “in a certain amount of satisfaction and amusement.”¹⁰

Like Lemoine’s claims, those made by Jones and Smith met with skepticism. Several physicians wrote to offer alternative explanations, suggesting that Jones and Smith had either made a faulty diagnosis or were wrong to impute the children’s abnormalities to alcohol. A letter from two physicians suggested that the children described by Jones and Smith had a form of Noonan’s syndrome, a condition of unknown etiology also characterized by short stature, mental retardation, and distinct facial features. Another doctor wondered whether the Seattle team had completed the work necessary to reach such a bold conclusion, noting the variety of abnormalities in the children they described and the fact that chromosomal studies had been done on only two of them. A Tennessee physician familiar with moonshine culture suggested that the problem may have been lead—a suspected teratogen—which was sometimes found in large amounts in “untaxed” (homemade) alcohol.¹¹

For every skeptic, however, there were several others who saw the article as a breakthrough. To these grateful doctors and their patients, Jones and Smith were master detectives who had succeeded in deciphering symptoms that had long eluded them. A group of Swiss pediatricians sent a letter and photograph to Lancet describing a child with FAS, and soon other journals began receiving case reports as well. Boston pediatricians found three children in one family who showed the features of FAS; a report from Ireland discussed a child who had been misdiagnosed until the work of Smith and Jones suggested the proper explanation for the youngster’s failure to grow.¹²

The literature on FAS grew quickly in the years following the first report by Jones and Smith. Clinical case reports detailed particular patients’ anomalies, expanding the list of physical features associated with the syndrome. Further confirmation of the developmental effects of alcohol came from professionals who worked with the mentally retarded and found, in reviewing their cases, that a significant number had mothers who were chronic alcoholics. At the same time, experts who worked with alcohol-abusing women began to see more clearly the effects of drinking during pregnancy, including higher rates of stillbirths, miscarriages, and low-birth-weight babies (a condition linked to higher mortality rates).

Jones, Smith, and their Seattle colleagues turned from individual case reports to an epidemiological study of a large population, comparing the offspring of women who abused alcohol in pregnancy with the offspring of women not known to have been alcoholic. The data came from the records of the Collaborative Perinatal Project (CPP). Under the sponsorship of the National Institute of Neurological and Communicative Disorders and Stroke, the CPP had gathered information about more than 55,000 mother-child pairs seen at fourteen different university-affiliated hospitals around the country between 1958 and 1965. The research was initially undertaken to determine factors related to the risks of cerebral palsy and other neurological disorders, and the study data were mined once again after the thalidomide disaster to see what other drugs might be associated with birth defects. During their pregnancies, the women were interviewed in detail about their drug use and their reproductive, medical, and social histories. No one thought to ask about their use or abuse of alcohol in pregnancy—important testimony about medical beliefs at that time, when social drinking was the norm and abusive drinking was thought to be largely a problem among men. Information about the children was collected during the first week after birth, at regular intervals during the first twenty-four months of life, and annually thereafter.¹³

Despite the omission of alcohol from the research protocol, the charts of 23 of the women identified them as alcoholics. The expected number of alcoholics in a population this size would be far greater; even a conservative estimate of 1 percent would yield 550. Clearly, physicians had not been looking to make the diagnosis or even to acknowledge it; they had written it down in these cases only because the women’s alcoholism appeared so unmistakable and so serious that it could not be overlooked. The Seattle group matched each of the women identified as alcoholic with two others of the same age, race, socioeconomic status, and education, ...

Table of contents

• Cover
• Title
• Copyright
• Contents
• 1 “We Realized We Were onto Something”: Naming FAS
• 2 “Conceived in Gin”: Historical Sightings of Alcohol and Pregnancy
• 3 “A Clinically Observable Abnormality”: Framing FAS
• 4 “Not Quite Like Other Children”: FAS, Science, and Medicine
• 5 “According to the Surgeon General”: Warning Women against Drinking
• 6 “Tempest in a Cocktail Glass”: Pregnancy Policing and the Media
• 7 The Thorp Case: Jim Beam on Trial
• 8 “An Argument That Goes Back to the Womb”: Adoptions, Courtrooms, and FAS Today
• Notes
• Acknowledgments
• Index