論文

In various areas of science and technology, active involvement of non-scientists in their practices is increasingly considered valuable, and medicine is a notable example of such areas. Patients and their families used to be perceived as passive beneficiaries of medical advancement, but today they are encouraged to become active collaborators of medical professionals. Attempts have been made to characterize this trend, and sociological concepts like biological citizenship have been introduced. While increased attention to the new role of patients and their families in medical research may promote die trend, it can also trivialize the struggles that they - not only as individuals but also as members of their disease-based community - might have to face in trying to assume the role. This problem is particularly noticeable where a history of non-scientists' successful involvement in medicine is reduced to a heroic story focusing on a single individual. By examining the case of orphan drug development for a rare genetic disease called Pompe disease and presenting its complexity that is left out in its simplified accounts, I demonstrate that studies on contemporary history of science and technology can play an important role in documenting such complexity and counterbalancing the power of simplified accounts.

This article examines the history of the policy concerning a class of diseases called intractable diseases in Japan with a particular focus on the roles of patient support groups in firstly legitimizing the grouping of such diseases and then shaping the nature of the support that the Japanese Ministry of Health and Welfare provided to the patients and their families affected by them. The Ministry started its policy on intractable diseases in 1972, predating the enactment of the 1983 Orphan Drug Act in the United States, which is known to be one of the most important events for the international rare diseases community. This policy decision was triggered by the emergence of subacute myelo-optic neuropathy (SMON) as a social problem in the country in the late 1960s. The Ministry first made its support available to patients with this particular disease and, as a result of a series of actions from patient support groups and their medical and political supporters, the same support was made available to those considered to be in similarly difficult circumstances. The way in which the support was arranged, however, turned out to be structurally divisive, inviting the patient groups to negotiate with the national and local governments separately depending on subject matters, and for about three decades since the start of the policy, they struggled to present their unified voice in the country. The governmental support for intractable diseases was finally revised in the mid-2000s, but as this article demonstrates, that became possible only after the patient groups came to realize the need of presenting a unified voice in their effort to improve the lives of those affected.