ABSTRACT
This observation by Timmermans and Haas is not novel in itself. There has been a consistent lineage of research studies illuminating how technical and biomedical aspects of ‘disease’ are created and constructed by medical practitioners and others. It is notable, however, for the fact that periodically sociologists seem to find it necessary to reiterate it. The empirical case study round which this book is constructed is very
specific: the definition and recognition of a genetic syndrome. Rett syndrome is an uncommon condition (although it is not universally classified as a rare disease), but it has significance for our sociological interests beyond its medical prevalence. Our interest in this syndrome goes well beyond the specific condition, and we use it to exemplify and explore some issues of much wider significance. In discussing the nature of Rett syndrome, we shall describe some of the ways in which it is identified and defined. We shall explore some of the ways in which it is defined in relation to different criteria and how it is related to other clinical entities in the ever-changing classification of related conditions. Here, we examine the impact of the MECP2 gene on the classification of the
syndrome. The international distribution of a new technology (i.e. the molecular test identifying mutations in MECP2) led to renewed attempts to define Rett syndrome more tightly on the basis of biomedical markers. However, new science and new technologies do not simply appear and transform the ways in which Rett syndrome is identified and delineated. Within this chapter we explore some of the challenges faced by the international clinical and scientific networks in their attempts to develop a stable model of Rett syndrome. We then examine the everyday work of the local clinical team to examine the practical
difficulties of managing the variation and instability within the diagnostic category to adjudicate on cases of Rett syndrome.
