ABSTRACT
We conclude this work by picking up, recapitulating and developing some of our key analytic themes. Rett syndrome has intrinsic interest, and its significance for affected children and their families cannot be exaggerated. But our own analytic perspectives are intended to go beyond this one, relatively uncommon, condition itself. We have chosen to document some of the social processes and events surrounding it because it illustrates some more pervasive aspects of contemporary medicine, and of key sociological or anthropological perspectives on it. In general terms we have emphasized, and illustrated, a number of recurrent
themes. Throughout this monograph we have repeatedly stressed the multiplicity of Rett syndrome itself. Notwithstanding its undeniable medical and biological basis, the condition does not exist as ‘Rett syndrome’ independently of the work of identification and interpretation that go into its production and reproduction. That work is enacted in multiple sites and settings, and we have followed the condition through them. We have emphasized that the syndrome is neither fixed nor a single entity. It changes over time, and it is constructed in different versions. Those range from the journal science of contemporary biomedical research, to the performance of clinical judgment, the work of activist coalitions or the everyday interpretations of parents and family members. Rett syndrome has a particular significance, because it is one of the many
conditions that have been identified as having a genetic basis. It thus exemplifies some processes that are identifiable across a wide range of conditions and medical specialties. It is one of the many clinical conditions that are implicated in the rise of the new genetics, and the growing significance of genetic medicine within the wider domain of biomedical knowledge. Our multi-sited ethnography of Rett syndrome is, therefore, intended to be a contribution to the much wider scrutiny of genetic medicine and its scientific and cultural significance. Our focus is on medical conditions that are currently identified in genetic
terms, which reflects our particular interest in medical genetics. However, we do not intend to convey the impression that these processes are unique to genetic conditions. We do not privilege genetics in this context. Equally, our focus on genetic conditions has a point: that an ever-increasing number of conditions are being defined as having a genetic cause or a genetic component is one important, contemporary example of how medical conditions are available for
successive phases of definition and classification. The current state of genetic medicine is not an end-point in these processes of construction. It is a distinctive phase in a historical and cultural process, and it has some distinctive characteristics. It is not, however, the culmination of an evolutionary process, nor the end-point of a progressive revelation of biomedical truth. Indeed, our argument has some urgency precisely because of the need to resist any implication that genetically based biomedical explanations mark the end of classificatory redefinitions. Indeed, it will be one of our themes here to suggest that recent interventions based on medical genetics have often destabilized medical definitions. Rett syndrome displays many characteristic features of the trajectory of a
genetic condition (cf. Brown, 1995). The original identification and naming of the syndrome reflects a common pattern. It was, as we have said, first identified from a small series of cases by one clinician. Rett originally referred to it as ‘puppet syndrome’, reflecting the characteristic appearance and behavioural characteristics of the children. The attribution of descriptive or exotic names to such syndromes has been common: examples from the general field of dysmorphology and developmental delay include cri du chat syndrome (based on children’s characteristic vocalization) and Kabuki syndrome, so called because the facial features of the individuals resemble the make-up of Japanese Kabuki actors. These features include long palpebral fissures of the eyes (a narrowing of the space between the upper and lower eyelids), arched ‘interrupted’ eyebrows and prominent eyelashes, giving the impression that the patient is wearing eyeliner. The subsequent adoption of the label Rett syndrome of course also reflects the common adoption of an eponymous clinician who first identifies the condition. At this point in its trajectory, the syndrome is defined primarily in clinical terms – that is, by reference to the characteristic signs of developmental delay, the child’s physical appearance, and the typical repetitive hand movements. Symptoms such as disturbed breathing patterns or epileptic-like episodes may be associated clinically with the condition, but are not treated as a defining (pathognomic) feature. Without a name, and the description of a type-case, no distinctive clinical
entity can conceptually emerge from the plethora of possible symptoms, explanations and appearances. On the other hand, the act of naming a condition can, of itself, imply a distinctive claim. It not only lays claim to the distinctive existence of a given condition (sometimes a big claim in itself), but also stakes a claim in what manner of condition it might be. The original description of the syndrome and its subsequent representation in ‘textbook’ medicine located it among the other conditions of problematic physical and cognitive development. In terms of a medical specialty, it fell firmly within the province of ‘dysmorphology’, a specialist field of practice that encompasses a very large number of syndromes and diseases, many of which are rare, but which give rise to a florid collection of types. Over 3,000 conditions and syndromes have been described (London Dysmorphology Database [LDDB], 2000; Pictures of Standard Syndromes and Undiagnosed Malformations [POSSUM]; Jones, 1997).
