How Extraordinary Was It? What Development of an Orphan Drug Meant for Patients, Their Families, and Their Community

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.