Paper short abstract:

This paper engages the history of orphan drugs, and based on its analysis, I demonstrate the work of some main actors, who gradually formed what can be recognized as ‘a collective of rare diseases,’ and discuss how this collective made rare diseases an important public health issue in our society.

Paper long abstract:

Patients' participation in biomedical research is a topic that has attracted attention of some social scientists, and research on rare diseases presents the significance of such participation. However, it was only in the last decade or so that rare diseases became recognized as an important public health issue. This is not to suggest that rare diseases had not been studied in medicine. On the contrary, medicine has long-standing interest in rare cases of disease since the time of William Harvey. It was not the lack of medical interest but that of commercial interest that those living with rare diseases had long suffered from.

Carefully examining the history of orphan drugs, this paper demonstrates how they changed their fate through their interactions with others - including medical researchers policymakers, government officers and pharmaceutical and biotechnology companies - and turned their problem of 'being rare' into an attractive opportunity for mutually beneficial partnership.

Following the recent discussion about the role of 'collectives' in biomedicine to produce conventions, such as recommendations and guidelines, which substitute the authority of individual clinicians, I argue that the interactions of the actors resulted in formation of 'a collective of rare diseases.' This collective serves to set out what can and should be done locally on rare diseases, not through production of recommendations and guidelines, but through sharing of the etiquette in addressing issues of rare diseases by recommendations and guidelines. In doing so, the collective has also secured patients a seat in research and policymaking concerning rare diseases.