Rare Disease Day, launched in 2008, is held annually to raise awareness and build political momentum to improve the lives of 300 million people living with over 7000 rare conditions worldwide. But why and how did uncommon conditions come to be known collectively as rare diseases (RDs), despite their individual heterogeneity? This is the central question Caroline Huyard sets out to answer in the Social life of Rare Disorders (2025). The monograph brings together, revisits and extends the author's earlier work, drawing on her doctoral research and a series of subsequent publications (2009–2011) to further develop the conceptual and empirical insights generated through research conducted between 2003 and 2005. Focussing on six rare conditions and eight patient associations in France, the book is organised into three parts. In tracing the history of rare disorders, Huyard provides a compelling argument linking the emergence of ‘rare diseases’ as a collective category to pharmaceutical interests, public health agendas, health policies and regulatory processes that shape how drugs are evaluated and marketed. Echoing her earlier work (Huyard 2009), she contends that the RD category helps to solve the ‘problem’ of orphan drugs—treatments for small patient populations that are considered ‘unprofitable’ by the pharmaceutical industry. By mobilising RDs within health policy, states have incentivised the development, trialling, and production of orphan drugs. However, Huyard contends that the regulatory context has not necessarily supported therapeutic innovation in the ways intended, instead enabling companies to repurpose existing drugs for RD markets. Contemporary sociological work suggests that this argument still rings true. Although the past 20 years has seen a huge increase in the availability of drugs to treat RDs, problems of equity persist. Only 5% of RDs have a pharmaceutical treatment, and those that do can attract ‘ultra -high prices’ (Martin 2022) due to exclusive patents and limited competition, ultimately leading to inequitable attention to different rare conditions and unequal access to treatments. The second and third sections examine lived experiences of RDs and role of RD associations. When living with a rare condition, everyday life is characterised by medical neglect, isolation, stigma, and poor quality of care within systems not designed to meet patient's needs. Huyard's analysis focuses on patients' and family's interactions with clinicians, researchers and patient associations, giving less attention to the complex and multiple ways living with a RD can shape everyday family life. Issues such as gender, race, class or disability are largely absent. However, her analysis of RD associations is a real strength of the work. She discusses why people join associations, who participates in them, and what these groups do, before innovatively shifting the lens to the collective level to examine relationships between associations. Adding nuance and complexity to Steve Epstein's early work (1996) on patient activism, Huyard outlines the diversity of RD organisations and their forms of collective action. Each group has their own logic, varying in their aims and composition. Some are dominated by patients or family members, whereas many other are comprised a heterogeneous mix of patients, families, medics and researchers. Some groups have a singular focus such as Epstein's AIDS activists, wanting access to drugs or clinical trials, others are more pluralistic, prioritising information campaigns, social assistance or offering connection and emotional support. Huyard suggests that it is more the shared experience of rarity, and the impacts living with a rare condition has on identity, biography and daily life, than biosociality or the genetic basis of a condition that binds people together. Going a step further, she examines how advocacy groups for different conditions come together under one RD umbrella. The work demonstrates how RD activism is grounded in shared experiences and collective commitment to causes that benefit the wider community. Taking a critical tone, she highlights important inequalities between groups. Whose stories are told shapes the (in)visibility of individual RDs while scarcity of funding and resources can drive competition between them. These tensions complicate ideas of collective activism, revealing a more fragmented and politically shaped landscape than notions of biosolidarity suggest. When this empirical work was conducted (2003–2005) there were no standardised care pathways for RDs, leading Huyard to suggest that the concept of rare diseases ‘in the plural’ had little relevance to physicians. However, this English translation and update to Huyard's work arrives at a timely moment. In the UK, a new phase in RD care appears to be unfolding, specifically orientated around the mobilisation of RDs within clinical practice. Recent developments include the establishment of new infrastructure, including legislation, specialised care pathways and clinics, quality standards, professional training and patient information centres. These initiatives respond to some of the long-standing collective challenges of living with a rare condition raised by advocacy groups, with potential to drive pivotal changes in how RDs are addressed within healthcare systems. However, it is too early to determine how these emergent changes will impact on the lived experiences of patients and families. Overall, the book offers an original and foundational sociological analysis of rare diseases as a collective category, and how this category is shaped by big pharma, political interests, public health agendas, advocacy groups and medical practice. It is essential reading for those interested in the sociology of rare diseases or patient associations. Its varied content and strong sociological grounding also have much to offer to those working in the sociology of health and illness or health policy fields more generally. Catherine M. Coveney: conceptualization, writing – original draft, writing – review and editing. Data sharing not applicable to this article as no datasets were generated or analysed during the current study.
Catherine Coveney (Fri,) studied this question.