Rarity and exceptionality in health – AAC French Ethnology

Rarity and exceptionality in health
AAC French Ethnology
Coordinator: Helene Kane helene.kane@univ-rouen.fr; Yannick Le Hénaff yannick.le-henaff@univ-rouen.fr

Synonymous with shortage or insufficiency, rarity generally carries value. Economic anthropology has explored the ways ‘the hierarchy of goods is organized according to their increasing rarity’ (Godelier, 1965, p. 66). Scarcity is thus presented as the result of a construction, a social process of qualification, organized in particular by social circuits (Zelizer, 1994). It creates bonds while differentiating people and moments, thereby conferring symbolic power (Mauss, 2019 [1950]; Simmel, 2013[1900]). While scarcity evokes a low quantity or frequency, exceptionality refers to situations that deviate from a commonly accepted rule or observation. When used to describe individuals, exceptionality highlights their ability to distinguish themselves and to remain outside normative behaviour through their unique values and creativity (Varikas & Riot-Sarcey, 1988). Exceptionality also creates unstable hierarchies, ranging from functional to defective, depending on the context and perspective, and determines access to resources (Trammell, 2014). What happens when these concepts are applied to health issues?

Social science research has mainly focused on issues related to common ailments, epidemics and major health scourges such as AIDS, cancer and, more recently, COVID-19, which threaten us all. While illness is a common and basic form of event (Augé, 1984), rare diseases or exceptional clinical forms specifically question ‘the meaning of evil’ and its ‘ultimate causes’ (Zempléni, 1985). Forms of suffering considered exceptional can also involve semantics of illness as a form of selection (De Sardan, 1994). In this issue, we propose to examine rare and exceptional situations of illness and their relationship to singularities (Vidal, 2004). For example, it has been argued that focusing on neglected conditions and little-known clinical situations contributes to a certain epistemic justice (Charmillot, 2014). It is not only a question of considering how different situations of rarity are circumscribed and categorized through various therapeutic responses but also of exploring the contrasting meanings associated with them. This perspective opens up a series of specific questions. What kind of singularities underpin the exceptional nature of health situations and experiences of illness? How are these exceptional situations constructed, delimited and mobilized? How do health professionals understand and respond to clinical exceptionality? To what extent does rarity in health, beyond the medical categorizations to which it is subject, correspond to particular social interpretations? Does rarity raise specific issues for health policies? Does it give rise to particular forms of professional and associative organization and mobilization?

Authors may address the singularities associated with the identification of a rare disease, atypical health configurations or exceptional care pathways. The category of ‘rare diseases’ covers only part of the rarity and exceptionality in health, which this special issue aims to explore more broadly. We propose that examining rare, exceptional, unique, or previously neglected situations can shed new light on concepts and approaches in the social sciences, particularly in anthropology and the sociology of health. Papers based on ethnographic data and case studies, drawing on original field research or offering a reflective approach to the specificities of research on rare and dispersed populations will be particularly appreciated. Authors are also encouraged to engage critically with their materials. More broadly, papers may draw on health situations to examine what exceptionality contributes to social science thinking about categorization and its uses.

Proposals for papers may fall within one or more of the following three themes.

– ‘Rarity’ produced by contexts, categories and data

Faced with the rarity and exceptional nature of diseases, the health world deploys a variety of responses. The category of ‘rare disease’, for example, highlights pathologies that, due to their low incidence, are marginalized by public health policies structured around epidemiological prioritization (Fassin, 2021). In France, rarity in health is understood according to a statistical norm: ‘rare diseases’ affect less than one in 2,000 people. This framework has paradoxical effects: the resulting epidemiological and political definitions group together many diseases that specifically affect a few individuals. In fact, between 6,000 and 7,000 ‘rare diseases’ have been identified, representing nearly 3 million people. Thus, paradoxically, it is not rare to be affected by such a disease. In Europe, this category emerged from the convergence of interests between patient associations and the pharmaceutical industry, contributing to both a health and economic framing of the problem (Dalgalarrondo, 2007). These categorizations respond to administrative requirements for the organization of care (Winance & Barral, 2013; Winance & Bertrand, 2024) and the mobilization of funds. However, this political framework is not neutral, as rarity is modelled in a way that places care and access to treatment at the centre of concerns, at the risk of generic categorization that obscures the diversity of these diseases.

The category of ‘rare disease’ is neither watertight nor homogeneous and raises tensions. First, it has different contours in different countries. This is partly because definitions vary and partly because this category covers disparate realities. Diseases in certain parts of the world may be labelled as rare in other geographical regions; this is the case for certain diseases known as tropical diseases in Europe. Rarity is also linked to contexts and migratory dynamics: sickle cell anaemia, which remainsa ‘rare’ disease in France, is likely to exceed the incidence threshold. These categorizations are linked to different social constructions of exceptionality, which may be particularly related to social constructions of age. For example, many cancers are labelled as exceptional in children, even though they are common in adults. These categorizations also call into question the segmentation processes that structure nosologies. Nearly 250 new rare diseases are identified each year, partly due to the redefinition of existing diseases into subgroups (Kerr, 2005). As disease categories multiply, certain health problems become ‘rare diseases’.
Articles that question the porosity of these categories and threshold effects are welcome, particularly if they focus on how these are constructed by administrative or medical bodies. How are rare disorders labelled and relabelled? What role do diagnostic methods play in these nosological classifications? How does the emergence of personalized medicine, based on genomics and biotechnologies, singularize patients and help overcome the divide between treatments for rare and common diseases (Lecompte, 2014)? How do these medical categorizations of rarity compare with various popular categorizations of diseases? Contributions may address the scientific production of rarity, the social and health consequences of medical innovations and nosological classifications, or the challenges of recognizing specific symptoms. These categories are involved in the construction of forms of moral legitimacy for receiving care or resources that may be questioned (Willen, 2012).
Various designations overlap or compete with the category of ‘rare disease’, including ultra-rare disease, disability, cancer care, neglected tropical disease, or orphan drug. Popular categories also tend to exceptionalise disease trajectories, which can be described as unfortunate, singularly favourable or even miraculous. Authors may examine the overlaps, as well as the tensions and resistances, between these various designations, which aim to highlight particular challenges and issues that are generally neglected or even marginalized by public authorities. Proposals describing the role of these categorizations in the experiences of patients or professionals, as well as their impact on the development of treatments, are encouraged. How are these categories appropriated and used by different groups of actors? We can also hypothesize that these categorizations lead to forms of invisibility or relegation of certain health situations that are, nonetheless, exceptional. We particularly welcome contributions focusing on these unlabelled exceptional cases. These may include putting into perspective atypical configurations of common diseases, such as cases of men with breast cancer or children with osteoporosis, or cases of patients with exceptional clinical developments or who have a unique combination of several pathologies.

A ‘rarity’ that gives rise to specific policies, organizations and mobilizations

A rarity in healthcare is commonly presented as a challenge for healthcare organizations, as it involves providing specialized care for a small number of patients. This ‘challenge’ manifests itself at various levels: training of professionals, planning of diagnoses and even screening, development of treatments, interdisciplinary work, etc. Changes in healthcare systems and medical practices have exacerbated these organizational difficulties. The division of medical labour into specialities tends to marginalize rare and complex diseases, while the decline of the clinical tradition in favour of evidence-based medicine constrains the marketing and prescription of treatments (Dodier, 2003; Huyard, 2012).
Addressing rarity in healthcare raises questions about the development of health policies concerning interventions and care that are not cost-effective in resource-constrained contexts. This issue, which is emblematic of rare diseases, also arises for other complex diseases or polypathologies and for a range of care whose efficiency is difficult to demonstrate. The difficulties of managing rare and complex diseases are exacerbated when they specifically affect poor populations (Bontemps & Bourmaud, 2018). In countries with limited resources, funds are primarily directed towards combating infectious diseases and maternal and infant mortality (Atlani-Duault & Vidal, 2013), resulting in the neglect of approximately 20 diseases classified as ‘neglected tropical diseases’. The issue of economic efficiency is also raised by the pharmaceutical industry, which is reluctant to develop ‘orphan drugs’, whose development costs would not be recouped by sales due to the small number of patients or the poverty of the populations concerned. It is therefore interesting to analyze, based on observations of these political and decision-making arenas how health responses to these rare, complex or neglected health problems are being developed despite the prioritization of ‘high-impact’ interventions, pressure to rationalize health spending and social inequalities in health.
Faced with the need to demonstrate epidemiological scale in order to exist, the response to rare diseases tends to rely on forms of internationalization, which enable the building of larger patient cohorts and pooling of resources (HCSP & HCERES, 2023). European reference centres are thus organized around rare diseases or groups of diseases; however, their implementation is proving to be a source of regional inequalities (Syed et al., 2015). At the national level, the multidisciplinary reference centres established to promote better access to diagnosis and care need further investigation. Articles focusing on these recent developments are encouraged, particularly if they shed light on the globalization of healthcare responses (Fassin, 2001). These organizations question the logic of networks, as well as patient recruitment. How do we work with patients who have rare conditions and diseases? How is networking, which is most often interdisciplinary and increasingly international, constructed? Research addressing these questions may draw on case studies of specialized international centres or networks.

We also wish to examine how healthcare professionals experience and react to the rarity and exceptionality of certain conditions. In the case of cancer care, for example, the use of the category of rare cancer by certain professionals facilitates coordination and the circulation of knowledge, ultimately enabling them to defend their professional jurisdiction (Pillayre & Besle, 2023). The role played by healthcare professionals in managing rare diseases or exceptional clinical situations, particularly about the inclusion or exclusion of those affected (Lesmo, 2023), also warrants analysis. Articles may also examine the career paths of those who choose to specialize in managing these conditions. Why are some people interested in conditions that most others tend to neglect? Do they face specific difficulties, such as a lack of resources and recognition? What symbolic legitimacy do they manage to obtain? Given the rarity and dispersion of scientific knowledge (Rogalski, 2022), do these professionals maintain specific relationships with the world of research? How do they mobilize the exceptional nature of their work to break free from certain norms and gain access to exceptional treatments, such as the use of orphan drugs?How do they mobilize exceptionality to break free from certain norms and gain access to exceptional treatments, such as Temporary Use Authorisations? How do technical devices contribute to producing exceptionality (Timmermans, 2005)?
Another characteristic of health responses to rare diseases and exceptional clinical situations concerns the mobilisation of associations and cooperation between patients and healthcare sector actors, which appears to be more advanced, leading to forms of interdependence that require clarification. Specialist doctors and pharmaceutical companies are encouraging the development of dedicated associations. These collectives are a resource for these actors in terms of patient recruitment, information sharing, etc. Collectives dedicated to rare or neglected health problems have multiplied since the 1990s (Chalamon, 2009; Rajtar & Knoll, 2024). Membership is often claimed based on shared suffering, generally associated with inadequate care, which leads to exclusion and isolation (Barral & Paterson, 1994; Chalamon, 2009), acting as a common cause. These associations play a crucial role in framing, advocating for, and raising awareness of rare, complex, or neglected conditions. More broadly, they have helped to build a representation of these conditions in the public sphere (Huyard, 2009; Aureliano & Gibbon, 2018). The involvement of patient associations in research dynamics is unique to the world of rare diseases (Rabeharisoa, 2019). Some collectives have participated in the construction of scientific objects in the context of medical disinterest or even defined research directions through the distribution of funds (Barral & Paterson, 1994; Kahane & Larédo, 1998; Rabeharisoa & Callon, 1998). This transformation of the economy of relations in the world of research, in which associations are no longer relegated to the role of auxiliaries, is not without tensions that warrant examination. Various contributions will thus be able to report on the multiple roles of these associations in the constitution of networks, the identification and recruitment of doctors, and the orientation of patients. We will be attentive to proposals that investigate the diversity of these associative configurations and question their possible consequences in terms of inequalities in care.

– Does ‘rarity’ shape the experience of disease?
Exceptional tragedies and rare clinical conditions vary widely in terms of their symptoms, severity, aetiology, treatment and the perceptions they convey. This heterogeneity produces varying experiences and contrasting effects on the social lives of those affected. Genetic disorders, which account for approximately 80% of identified rare diseases, can cause specific distress, including questions about origins, parentage, and identity, as well as feelings of guilt associated with the transmission of the disease (Beaudevin, 2013; Bonnet, 2009; Geelen et al., 2011). Beyond the individual affected, it seems relevant to consider how rare genetic diseases influence perceptions of heredity and family relationships (Kane, 2018; Waldboth et al., 2016). Experiences are likely to vary depending on the visibility of the diseases, their recognition and how they are perceived.
Notwithstanding this diversity, it is essential to examine whether there are commonalities in the experiences of rare diseases, exceptional health situations (Faye, 2015), side effects, or unexpected complications. Some people with rare disorders may share a community of experiences related to the healthcare services they use or the care they receive. Reflection on the comparability of these experiences is encouraged. People affected by rare or neglected health problems frequently encounter difficulties in receiving care, such as long diagnosis times, lack of knowledge about their condition, lack of curative treatments or distance from specialized healthcare centres. Beyond the issue of access to care, the moral dimension of medical diagnosis can be analyzed as a means of recognising the patient’s status, both for oneself and for others (Jutel & Nettleton, 2011). We encourage authors to focus through case studies in particular, on the consequences of difficulties in diagnosis or recognition of the condition, medical negligence and abandonment, as studied in the literature on medically unexplained symptoms.
Exceptionality also raises questions about the feelings of loneliness and isolation experienced by patients (Gundersen, 2011). The classification of a disease as ‘orphan’ also highlights a form of disaffiliation from society and its common ills. Due to the rarity or marginalization of these diseases, forms of social recognition also struggle to gain acceptance among the general population. This lack of recognition tends to render these experiences invisible (Ciribassi & Patil, 2016) and makes it challenging to claim patient status in different social spaces (Joachim & Acorn, 2003; Le Hénaff & Héas, 2023). Between relative discretion in their individual social lives and collective efforts to raise awareness (Huyard, 2012), it is worth examining how those affected talk about these diseases, identify themselves and are identified by others. Proposals may also focus on carers and the specific nature of their role in these unique contexts (Le Du et al., 2002). Life stories, illness narratives or family monographs can provide valuable insights into these dynamics.
The uncertainties surrounding diagnoses, prognoses, treatments and the limitations imposed by the disease (Arborio, 2019; Gross, 2010) can also be analyzed as a characteristic dimension of the experience of rare diseases and exceptional clinical situations. Due to a lack of knowledge about these conditions, individuals and their families are exposed to numerous doubts about the disease and its treatment, causing a sense of “bricolage ” (Smith et al., 2023). How they live with these uncertainties, adapt, and build experiential knowledge and self-narratives (Arborio, 2021; Boucand, 2018b; Dyson et al., 2016) opens up rich perspectives that can be developed in the proposals.
A final point of interest concerns the specificities of therapeutic relationships (Arborio, 2019; Huyard, 2012), particularly in contexts where these patients—often without treatment—are sometimes perceived as difficult (Hardy et al., 2020). The relationships forged with specialists over time pave the way for forms of collaboration in the production of knowledge about the disease. This gives rise to particular relational configurations, probably involving forms of interdependence and communities of interest, particularly when ‘rare’ or exceptional patients constitute resources. On the other hand, when dealing with non-specialists, those affected regularly find themselves in a position where they have to explain or even justify their illness and risk having their complaints disregarded (Teixeira et al., 2019) or their stories discredited (Gross, 2021). We will pay close attention to analyses that shed light on this risk of discrediting and how it combines with forms of discrimination linked to social background, gender or presumed origin. Symptoms may be unevenly attributed to psychological factors (Le Hénaff et al., 2022), as illustrated by the management of endometriosis. Finally, articles may document how the lack of a satisfactory medical response to these rare conditions leads some patients to favour other therapeutic responses (Benoist, 1996), which may also contribute to positively reconstructing the exceptional nature of the patient. In this sense, we encourage contributors to consider how rarity or exceptionality diversifies therapeutic pathways and reconfigures social inequalities in health.

Schedule:
* Proposals for contributions (title and abstract of 5,000 to 6,000 characters, in French or English) should be sent by 8 September 2025 to the coordinators of this issue:

Helene Kanehelene.kane@univ-rouen.fr
Yannick Le Henaffyannick.le-henaff@univ-rouen.fr

They should outline the main lines of argument and empirical material used, and be accompanied by a bio-bibliographical note on the author.

* The final texts of the selected proposals (35,000 to 70,000 characters max., including spaces and bibliography) are due by 15 February 2026.

* This issue of Ethnologie française is scheduled for publication in February 2027.