Who rules rare disease associations? A framework to understand their action

Authors


Address for correspondence: Caroline Huyard, Groupe de sociologie politique et morale, EHESS, 10 rue Monsieur le Prince, Paris 75006, France
e-mail: c.huyard@orange.fr

Abstract

The inner structure of so-called ‘patients’ organisations’ has been accorded relatively little attention with respect to their increasing role in the medical world. This comparative study in France of eight such organisations, matching six rare disorders, explores the issue of power and decision making through the description of the entities that make up the organisation (and especially which stakeholders are represented), their mutual relationships, the temporal scope of collective action, and the concrete achievements of the organisation. Two main types of organisation are distinguished: ‘pluralistic’ organisations (that bring together a broad array of different stakeholders who are willing to work together) and ‘monistic’ organisations (where a single category of stakeholders firmly takes the lead). Their operations are very different and result from the association’s composition. A key finding is that both the usual opposition between lay and expert and the reference to the diseases’ characteristics prove to be irrelevant to understanding these organisations. Rather, the composition of the leading group is crucial.

Introduction

For the past 30 years, the so-called ‘patients’ organisations’ have become a major feature of the medical landscape. Several factors have strongly contributed to their development, such as the promotion of patients’ autonomy, institutional reforms of the healthcare system that are aimed at improving users’ participation, and patients’ claims for the acknowledgement of their specific expertise, especially in the case of chronic illness. However, little is known about these groups. Commonly agreed definitions are missing (Baggott and Forster 2008): they are usually referred to as ‘patients’ associations’ or ‘health consumer and patients’ organisations’, but, as demonstrated by Chamak (2008), these terms do not apply in a number of cases, and especially when the organisations they relate to are actually ‘parents’ organisations’ and not ‘patients’ organisations’. On the one hand, scholars have addressed a number of topics regarding the role of these organisations in medical practice, such as the relationships with medical professionals (Bach 1998) or action regarding biomedical research (Callon and Rabeharisoa 1999, Barbot 2002, Dalgalarrondo 2004, Epstein 2001, Novas 2005). On the other hand, when addressing political issues, they have focused on the influence of these organisations on public health policy making (Wood 2000, Baggott, Allsop and Jones 2005) and the emergence of a social movement (Epstein 2001, Brown and Zavestoski 2004, Brown et al. 2004, Allsop, Jones and Baggott 2004, Landzelius 2006, Chamak 2008). Both strands of research focus on the aims and outcomes of a number of patients’ groups challenging medical policy. Thus, the inner structure, resources and functioning of the formal groups (as well as those of organisations that do not challenge medical policy and practice) are not addressed by health-movement research. Moreover, the classical issue of power within these particular organisations has been neglected, which is in line both with a lack of interest in the study of organisations in the field of medical sociology (that rather addressed social movements), and with a lack of interest in lay health groups in the field of organisation studies (that mostly investigated hospitals or health centres) (Davies 2003).

However, a precise depiction of the inner structure of these associations, of their activities, of their goals and of the resources they tap into is needed to elaborate accurate distinctions between different types of organisation, and thus better understand their action. The related issues of these organisations’ legitimacy and representativeness also depend on this series of features (Wood 2000). Lastly, such a description will prove useful to assess the impact on these organisations’ action of several disease-related features, such as: the state of scientific knowledge (Epstein 2001, Rabeharisoa 2003), the medical categories that are in use (Chamak 2008), or the number of persons who are likely to become involved in collective action on the basis of their common illness (Stockdale 1999).

A specific type of association has become particularly significant in the medical field for the past 10 years in Europe, be it from an institutional or from a quantitative point of view: the associations dedicated to rare diseases, i.e. whose prevalence is below 5/10,000 according to the European Regulation on Orphan Medicinal Products. In what follows, I shall term them ‘rare disease associations’, in order to show that their composition is a crucial issue and will not be presumed. Since the emergence of this category of diseases, first in the 1984 version of the Orphan Drug Act in the United States of America, and then, for instance, in the Regulation on Orphan Medicinal Products of 2000 in the European Union, these associations have been very active. In the United States of America, the National Organisation for Rare Disorders was set up with the intention to educate the public and the medical community by acting as an international clearing house of information on rare disorders. In the European Union, patient representatives from rare disease associations participate in the Committee for Orphan Medicinal Products, which reviews applications for the status of orphan medicinal products in Europe. In France, rare disease associations number a total of 141 associations out of the 400 that were registered in 2008 by the Institut National de la Santé et de la Recherche Médicale (National Institute of Health and Medical Research) as being willing to support research projects.

On the basis of the empirical data on rare disease associations presented here, I argue that the stakeholders’ representation within the organisation is decisive. It has an impact on many other dimensions of the organisations, whatever the characteristics of the disease. Exploring rare disease associations’ composition leads to identifying two types of organisations, whose description is the purpose of this study. Some associations bring together a broad array of different stakeholders who are willing to work together. This is why I suggest terming these organisations ‘pluralistic associations’. In other associations, a single category of stakeholders firmly takes the lead and strives to control the actions of the other, subordinate, stakeholders. This is why I suggest calling them ‘monistic associations’, as opposed to ‘pluralistic associations’. Among these monistic associations, a further distinction is to be made between those that have only few financial resources (‘recognition-claiming associations’), and those that have much more of them (‘radical associations’).

Methods

This research was conducted in France and empirically grounded on eight organisations, matching six rare diseases. The sample of diseases included cystic fibrosis, fragile X syndrome, Wilson’s disease, mastocytosis, locked-in syndrome, and a syndrome that is especially infrequent and that I will call simply the Very Rare Syndrome, in order to protect the confidentiality of the patients’ identity and of their family. These six disorders build a contrasting sample, which aims to cover the greatest possible diversity, thus allowing the identification of the key factors influencing the functioning of the related organisations. These factors were expected to include the prevalence of the disease, whether it has a genetic origin, whether it appears in childhood or adulthood, is physical or mental, or shortens life-expectancy (Orphanet data), and whether or not it has a certain notoriety. This is summarised in the table below: Table 1.

Table 1. The six disorders and their characteristics
Characteristics of the diseasesFragile X SyndromeCystic fibrosisWilson’s diseaseMastocytosisLocked-in syndromeVery Rare Syndrome
Estimated number of affected persons in France10,0005,0001,5008002505
OriginGeneticGeneticGeneticUnknownAccidentalGenetic
Typical age at presentation of the diseaseChildhoodChildhoodEarly adulthoodAny ageAdulthoodChildhood
SymptomsLearning difficulties and behavioural troubles (shyness, autism)Bronchial and rhinosinusal symptoms, pancreatic insufficiency and liver diseaseAccumulation of copper in the body, with hepatic, neurologic or psychiatric presentationAccumulation of mast cells in one or several organsComplete paralysis, inability to speak, but fully preserved mental capabilitiesSeveral organs are affected
TreatmentNoneSymptomaticThree different specific drugsSymptomaticNoneSymptomatic
Impact on life-expectancy or current life-expectancyNone40 yearsNone if treated adequately, deadly otherwiseVariable (lethal in 10% of the patients)VariableVariable
NotorietyWeakHigh: fund-raising campaignsWeakWeakHigh: a book (Bauby 1997) has publicised the condition in FranceNone

Each of these six disorders is represented by at least one association. The enquiry was limited to those that have a national coverage. Their goals, activities and functioning will be examined in greater detail, and with respect to their organisational characteristics, in later sections. Those (age, founding members and financial resources) are summarised in the table below: Table 2.

Table 2. The eight associations and the characteristics of their inner structure
OrganisationsRelated conditionYear of creationFoundersRough annual budgetMains sources of funding
Le Goéland (Seagull)Fragile X Syndrome1991A couple of parentsLess than one hundred thousand eurosOccasional sponsorships and subsidies
Mosaïzques (Mosaics)Fragile X Syndrome1993A motherLess than one hundred thousand eurosMemberships
Vaincre la Mucoviscidose (Defeating Cystic Fibrosis)Cystic Fibrosis1965Physicians and parentsMillions of eurosRegular fund-raising campaigns; sponsorships
ABCF Mucoviscidose (ABCF Cystic Fibrosis)Cystic Fibrosis1998One physicianHundreds of thousands of eurosSponsorships and donations
Association Bernard Pépin pour la maladie de Wilson (Bernard Pépin Association for Wilson’s Disease)Wilson’s disease1989Physicians, patients and relativesTens of thousands of eurosDonations; occasional sponsorships
Afirmm: Association française pour les initiatives de recherche sur le mastocyte et les mastocytoses (French Association for research initiatives on mastocyte and mastocytosis)Mastocytosis1999One lay personMillions of eurosA proportion of the related biotech firm’s benefits
Alis: Association du Locked-in Syndrome (Locked-in Syndrome Association)Locked-in Syndrome1997One patient (author of a best-seller about this condition) and one health professionalLess than one hundred thousand eurosDonations and subsidies
Very Rare Syndrome AssociationVery Rare SyndromeAfter 2000A couple of parentsNoneNone

The enquiry aimed at covering potential or former members. For the selection of participants for the interviews, I followed a two-step procedure: (1) I first contacted the associations dedicated to each of the disorders. Then, I contacted either health professionals who had encountered many patients with one of the diseases in the sample (for fragile X syndrome) or a specialised hospital service (for cystic fibrosis and Wilson’s disease) in order to subsequently meet patients, parents and health professionals. Persons with locked-in syndrome are unable to participate in a classical interview and care is especially demanding and time-consuming; I preferred, therefore, not to interview their relatives. Most families affected by the Very Rare Syndrome happened to be unwilling to participate, because they had been diagnosed too recently. The persons in charge of the mastocytosis organisation were respectively not able and not willing to act as intermediaries with the patients. (2) I discussed the project with physicians and a psychologist, and they contacted some patients or relatives. They subsequently provided me with the address (for X fragile syndrome) or the day and time of the patients’ consultation (for cystic fibrosis and Wilson’s disease) so that I could arrange to meet them. Prior to the interview, the patients were given the option to participate or not. They were informed that the interviews would be fully tape-recorded and transcribed, and that their personal information would remain confidential. During the interviews, I reminded the participants that they were free to not answer questions that they did not want to and to interrupt the interview whenever they wanted to.

I carried out 28 interviews with patients, 15 interviews with parents, 19 with health professionals and 14 interviews with volunteers or employees of the relevant associations. Some participants’ situation overlapped two categories, e.g. some parents who had responsibilities in an association. According to the focus of the interview, these participants are considered as either parents or as associations’ volunteers. Among the 28 patients, there were 15 women and 13 men, from 20 to 47 years old. Fifteen participants had cystic fibrosis, ten had Wilson’s disease and three had fragile X syndrome. Among the 15 parents, there were only three fathers; eight parents had at least one child with fragile X syndrome, three had at least one child with Wilson’s disease, two had at least one child with cystic fibrosis, and two had a child with the Very Rare Syndrome. Among the association volunteers or employees, two had a child with a rare disease (Duchenne muscular dystrophy and cystic fibrosis). In this category, four participants worked in associations that are dedicated to rare diseases in general, ten in associations that are dedicated to one particular rare disease; six of them were in an association dedicated to cystic fibrosis; three of them in an organisation dedicated to mastocytosis, and one in an association dedicated to locked-in syndrome. Among the health professionals, there were eleven medical doctors; seven had specialised in cystic fibrosis, three in fragile X syndrome and one in Wilson’s disease.

Although the interviewees were deliberately not recruited exclusively from the associations’ leaders or active members, in order to gain a broader understanding of the expectations, perceptions and critical views of a wide range of potential stakeholders, commitment to an association was widespread among them and covered all degrees of involvement. Among the 19 health professionals, 10 were or had been involved in the associations’ activities. Similarly, among the 10 participants with Wilson’s disease, only two had never attended a national meeting of the corresponding association. Similarly, all the participants who had a child with fragile X syndrome were members of an association dedicated to the syndrome or, in only one case, to intellectual disability in general. However, the three adult patients did not wish to take part in such organisations. According to the estimated prevalence reported in medical literature about locked-in syndrome and the Very Rare Syndrome, the corresponding associations were able to identify nearly all French patients. The case of cystic fibrosis is different, because the main association, Vaincre la mucoviscidose, plays a key role in the organisation of care, making it difficult for patients to avoid contact with it. Besides, problems of cross-infections can arise when patients come together physically, which is a potential obstacle to such meetings. However, four interviewees with CF and two parents had responsibilities within the main CF association, and one interview was with a physician who had created his own association. I could not collect data on this issue for mastocytosis. In addition to the interview work, with the authorisation of the organisers, I attended, recorded and transcribed 16 meetings within associations dedicated to rare diseases in general (4), to fragile X syndrome (3), to cystic fibrosis (7), to Wilson’s disease (1) and to locked-in syndrome (1). I could also read internal documents, such as associative bulletins and activity reports.

I have drawn on Grounded Theory methods to analyse the data (Corbin and Strauss 1998). Coding highlighted the following topics: which stakeholders are represented, both nowadays and in the course of the history of the organisations; what the organisational entities are that make up the organisation and what their mutual relationships are; what the temporal scope of collective action is; what the concrete achievements are, and have been, of the organisation; and what the relationships between the stakeholders implied. It is likely that data saturation could be improved, but the findings are however very coherent at this stage. Indeed, ‘pluralistic associations’ and ‘monistic associations’ are in sharp contrast and display a clear inner structure, as we shall see in greater detail hereafter.

Pluralistic associations

There are three ‘pluralistic associations’ in the sample: Vaincre la mucoviscidose, the Association Bernard Pépin pour la maladie de Wilson and the Association du locked-in syndrome. They cover a range of diseases with different characteristics, since they represent two genetic diseases (one disease that remains incurable and lethal, and a disease whose natural history is also lethal but can generally be efficiently reversed), and one non-genetic disability. These organisations are characterised primarily by the fact that they bring together patients, their relatives and health professionals, all of them as equals. Their action covers a temporal scope that includes both the near and the distant future, and does not rely on the expectation of a medical breakthrough that would dramatically alter its goals.

The willingness to gather different stakeholders has been present since the creation of these organisations, whatever the date of their creation (in the 1960s, the 1980s or the 1990s), and it has remained the main drive for all the participants. Indeed, the goals that these associations had given themselves in their early days tightly depended upon such a grouping: they deemed it necessary to gain public health administration’s official acknowledgement of the disease for the one1, to end the patients’ isolation for the other2, and to provide both health professionals, patients and families with emotional and material support for the third one.3 The achievement of each of these goals implied assembling as many people as possible. The three associations have been created jointly by health professionals and by ‘lay’ persons, and more precisely, by clinicians and patients in two cases, and by clinicians and parents in one case, the patients themselves joining the organisation later, when their increased life expectancy and number allowed them to get involved.

The board of directors of each of these associations includes three categories of stakeholders: (1) health professionals, (2) patients, (3) relatives of the patients, with the first category on the one hand, and the second and the third categories on the other hand, roughly on an equal numerical footing. In two cases, health professionals were in the majority when the organisation was founded.4 Health professionals frequently are clinical investigators, i.e. professionals who work both as care providers and as researchers. In all cases, an effort is made to include in the permanent structures of the association representatives of all the professionals who face the disease, including paramedical professions.5 The internal organisation of these associations displays some slight differences. Thus, two out of the three associations have a scientific board. In one case, it has remained inactive since the creation of the association, because the association focused on care and social support and planned no research project. In the other, it is but one board among others (medical board, patients’ board, associative life board). Most of these boards are made up of one category of stakeholders only, although they regularly have work sessions with external experts who do not belong to this category. In the third association, health professionals, who often were already active members of the main association, have created a specific independent association that brings together clinician-investigators who have an interest in the disease.6 Both this scientific council and the independent association are designed to foster the exchange and the progress of knowledge, in different and evolving ways (Larédo and Kahane 1998). But this is not true of all entities referred to as a ‘scientific board’, as we shall see later on.

The members of these associations do not consider their collective action as having a definite end time. This is not a surprise in the case of locked-in syndrome, since it is viewed as a disability that is unlikely to be cured, but that rather demands ongoing efforts towards the patients’ integration. On the contrary, the case of Wilson’s disease is especially illuminating in this respect, since the association tends to be increasingly active, although very effective treatments have been available for decades. The case of cystic fibrosis is different insofar as it remains a life-shortening disease with symptomatic treatment, but the participants insisted they were engaged in a lengthy process that is not intended to come to its end with the hypothetical discovery of an efficient therapy. A patient thus explained: ‘the association does not work so that (...) we can withdraw before the ‘cure’, in quotation marks, or before certain critical thresholds, when one would say, ‘the association is not needed any more’. There is still work to be done. (...) I think that we are not near to seeing an end yet. Besides, among us, we rarely talk about it. And then, I think there is a comforting dimension, with the quality of life department, there will perhaps always be an association to provide hospitality, even if there are no more deaths….’7

Collective action encompasses a broad temporal scope that implies the collaboration of different stakeholders, be they those who have a concern for the present or those who care for the distant future. The series of presentations of the association’s activities, at the general assembly of one of the ‘pluralistic associations’, illustrates this point: a biologist discussed the patients’ diet on the basis of a nutrition book that a family had given to the association, a neurologist presented the preliminary results of an ongoing research on pregnancy for the patients on the basis of a questionnaire that was filled in by members of the association, and then discussed the future creation of a European database of the patients, a project supported by public organisations, a pharmaceutical company and corresponding disease associations.8 Another association allocates 30 per cent of its financial means to biomedical research projects, 20 per cent to healthcare improvement, 10 per cent to social assistance, and 15 per cent to information campaigns.9 Another one offers emotional and practical support by telephone, creates videotapes to educate health professionals, and maintains relationships with different healthcare institutions in order to educate them, help them to improve the quality of their services, and lobby for the patients.10

In spite of major differences between the three conditions that the ‘pluralistic associations’ are dedicated to, the organisations themselves display many similarities regarding their respective actions. This suggests that medical issues are not key to understanding the way rare disease associations operate. On the contrary, political issues (i.e. how the stakeholders consider collective action and take part in it), especially the composition of the organisation, seem decisive. The comparison with the other type of association, namely ‘monistic associations’, provides further evidence.

Monistic associations

A single category of stakeholders runs ‘monistic associations’. These organisations may include categories other than the leading one, but those will then stand in a subordinate position, typically acting as advisers who do not actually take part in the decisions. This particular composition and distribution of power shapes collective relationships that are very different from those of ‘pluralistic associations’. Notably, (1) there are no collaborative relationships, i.e. relationships between equals who share a common goal, but rather attempts to turn the participation of non-leading stakeholders into means to an end, and (2) these organisations consider their action as having a definite end time that would be achieved through a ‘revolutionary’, i.e. sudden and deep, change, and that may justify neglecting other, more immediate, goals. However, this group of ‘monistic organisations’ is not as homogeneous as the pluralistic ones, and it is necessary to distinguish two different types of ‘monistic associations’ according to whether they have financial means at their disposal. I suggest terming the ‘monistic associations’ that have very few means ‘recognition-claiming associations’, and those that have financial means that enable them to take independent and potentially effective action ‘radical associations’. I shall explain why below.

Recognition-claiming monistic associations

The ‘recognition-claiming monistic associations’ are the two associations dedicated to fragile X syndrome and the one dedicated to the Very Rare Syndrome. They have only few financial means (i.e. some meetings are cancelled or postponed because they cannot be funded, the association’s representatives sometimes use their own private resources to carry out actions, and long- or medium-term actions are hardly planned). They can be viewed as recognition-claiming for several reasons. Their concrete action mainly aims at insisting that they and the disease that they represent exist and deserve attention. Thus, the actions of these organisations vary little over time, and identical projects are continued without any assessment or amendment, with the idea that they will contribute towards publicising their cause. The scientific board, when there is one, mostly serves as a support for the association’s credibility. Finally, if the associations’ representatives often insist that they act in partnership with health professionals, this partnership is much more an aspiration than a reality, and the leading stakeholders actually take action on their own. The association of the Very Rare Syndrome being more recent and particularly small, the other two associations will be the focus of this section.

The associations Le Goéland and Mosaïques were created respectively by a couple of parents and by a mother, with the support of one or two health professionals who do not have any responsibilities within the associations, and are sometimes not even members of them.11 These organisations consider themselves to be parents’ associations. The board of directors is exclusively made up of parents. Fifteen years after the creation of these organisations, the founders still play a key role and remain in the same positions. Actually, their original view of collective action is very different from the one of the ‘pluralistic associations’. The association is above all considered as a means ‘to be heard, to be acknowledged, and to be supported’12, not as a working platform for several categories of stakeholders. It is a tool for demanding assistance from other potential stakeholders, not for creating the means of mutual exchange. This goal tends to be the main one of these associations.

What feelings or objectives drive these associations’ representatives is an issue that deserves attention. Commitment is described as an authentic emotional and moral need. How powerful it is, is clearly expressed by an association’s representative: ‘We were sort of enraged. And when we stopped working on information, on training and all that, if we were no longer working for that, we became sick’.13 Some parents even come to consider substituting for health professionals, as a mother explains: ‘I even thought of resuming studies in biochemistry, in order to really understand, and to do research’.14 These attitudes can be viewed as two different ways for individuals to become overwhelmed by the action against the disease, in the first case because this action has turned out to be a vital need, and in the second one because it changes one’s status from that of parent to one of health professional. Moreover, the motivations of these associations’ leaders make it extremely difficult for them to delegate power, since the boundaries between themselves and the rest of the association are blurred. This has many consequences for these organisations, which challenge the emergence of an authentic collective.

The scientific board in such associations greatly differs from that of ‘pluralistic associations’. Two of the recognition-claiming associations have such a board. It is not a platform for a common dynamic, its members hardly have meetings15, but they are expected to guarantee the credibility of the organisation, by accepting the mentioning of their names in relation to it, and by providing medical or scientific information when needed. Besides, the composition of this council reflects that the association’s leaders have a restrictive view of the relevant stakeholders. If they aspire to have researchers and medical doctors join their organisation, they consider neither the participation of the patients themselves, nor that of care or social work professionals. This is a contrast to the inclusive approach of the ‘pluralistic associations’. Thus, the patients who might participate perceive the association as their parents’, and not as a group in which they could participate.16

The temporal scope of collective action is not defined in a collective way within these organisations. On the one hand, it is closely influenced by the past experience or by the present difficulties of the founders themselves, and is not necessarily related to the most important issues for all the associations’ members. Thus, during the 1980s, the founding families confronted health professionals, notably psychiatrists, being hardly aware of the genetic component of certain intellectual conditions, and they have subsequently devoted a great effort to the organisation of symposia, in 1995 and 2000, aimed at getting these professionals to open up to genetics. However, associations do not attempt to assess the impact of these events, therefore repeating them over time, and they tend to neglect other issues, such as securing the future of the children with an intellectual disability after the death of their parents, although all the interviewees with children with the fragile X syndrome said that this is one of their major worries. On the other hand, the associations insist on the idea that collective action will eventually end, thanks to ‘revolutionary’ medical discoveries. Thus, each time research results are published, the associations’ leaders expect the imminence of major changes, as illustrated by this comment from an association’s representative: ‘from there (the understanding of one mechanism involved in the disease), everything will explode, we will be given all the means, the laboratories will look at us’.17 Ordinary members have an ambiguous attitude towards this view. They appreciate it, because they believe it ‘brings hope’18, but they also admit that they actually expect no such breakthrough, and merely desire better care here and now for their children.

Lastly, the actual collaboration between these associations and health professionals is poor. Since 2004 in France, specific hospital units for rare diseases have been granted a nationwide specific designation, as reference centres, which acknowledges their expertise and improves their funding. The units that planned to apply for reference centre status solicited the ‘pluralistic associations’ (in which some of their members were often already committed) to gain their support.19 Some associations had even fostered the creation of similar units before the national movement was launched.20 But there has been no similar dynamic of cooperation in the case of these recognition-claiming associations.21 Similarly, as an association representative reported, the disagreement between the mean age at the time of the diagnosis measured by one association and that measured by the laboratories that perform the diagnosis reflects how difficult it is to work together: ‘I had written that the mean age at the time of the diagnosis was three years old and that we who are interested in the fragile X have calculated an average age, and indeed the mean age at the time of the diagnosis is 11.6 years. So it means that there are huge regional disparities’.22

These associations are a contrast to ‘pluralistic associations’ in many ways: the willingness to be supported is greater than that to engage in collective work with other groups, and especially with a scientific board; action is highly emotion-driven, as opposed to the collaboration-driven action of ‘pluralistic associations’, its temporal scope is strongly influenced both by past experience and the way the leaders picture an ideal future and tends to neglect the present or the near future; and a sudden ‘back to normalcy’ state is hoped for, which is considered a nonsense in ‘pluralistic associations’. Associations that have a similar monistic composition but also financial means to carry out actions display features that are just as opposed to those of ‘pluralistic associations’, but in slightly different ways.

Radical monistic associations

The two other ‘monistic associations’, namely ABCF Mucoviscidose and Afirmm, have also set themselves one objective and consider that the other stakeholders should assist them with its fulfilment, but what is more, they have secured the financial means to reach their goal (through annual budgets that are above one hundred thousand euros and up to millions of euros). They both display the characteristics of what Simmel (1902) has identified as being small groups’‘sociological radicalism’: ‘it is marked by the unreserved dedication of the individual to the tendency of the group, by the sharp delimitation of the same against neighbouring structures which is necessary to the self-preservation of the group, by the impossibility of taking up into the externally narrow frame a multitude of far-reaching endeavours and thoughts’ (1902: 9). The first characteristic is doubly present in this case, both with individual aspirations being completely subordinated to the collective goal and with the hegemony of a single person on the whole organisation. The second characteristic takes the form of a relentless condemnation of the strategic choices of the other associations in the field.23,24 Finally, these associations pursue over the years a single objective, without deviating from it or critically reviewing it. I argue that this radicalism results both from the monistic structure of the organisation and from the importance of its financial resources.

Both ‘monistic radical associations’ were created by one person who still has the lead, a medical doctor in one case, a lay person in the other. Both pursue a single goal, respectively to support research projects on pharmacological treatments of CF with a focus on the role of proteins, and to find a cure for mastocytosis. Both associations have a scientific board that validates the scientific orientations of the association, whereas, in ‘pluralistic associations’, schematically, the board of directors validates the orientations of the scientific board. Thus, ‘collective’ action is monitored by a single category of stakeholders or a single person and strives for a single aim (however, this aim varies from one association to the other). As an association’s representative explained: ‘We have put in the mission of the association to cure the disease. And that’s that. I refused systematically all the social tasks of an association. There is no social mission. I never speak to patients; well I speak, but it is to develop a trial, this sort of thing. But there are no welfare activities. People would say, ‘but we wanted to be able to talk with people with this disease’, and we answer, ‘no’. Or rather, we don’t say no, we say, ‘that’s your problem!’.23 Lastly, an important feature of these associations’ discourse is their contrasting of a dark past with a bright future, as in this information leaflet on cystic fibrosis: ‘the gene of cystic fibrosis was discovered in 1989, 19 years ago. For 19 years, parents have hoped, and patients have tried to wait. During these 19 years, some were unable to wait, and others will soon not be able to wait any more. (...) Today, we cannot cure cystic fibrosis. What we can do tomorrow is up to you’.

Recognition-claiming associations and radical associations thus do not only differ with respect to their means, but display a series of disparities: the first ones strive to be heard, the second strive to take action; the recognition-claiming association’s leaders tend to be emotionally overwhelmed by their cause and struggle to keep the organisation going, whereas those in radical associations firmly control the organisation’s action; the scientific board serves as a credential provider in one case, and as a means to an end in the other; there is thus nearly no collaboration at all in recognition-claiming associations whereas collaboration is an instrument to achieve a self-set and self-monitored goal in radical associations. However, both types of ‘monistic association’ share a specific temporal scope that tends to insist that the future is more important than the present. This stance does not favour critically assessing the actions that have been taken, but rather rushing in. An important question then is that of the dynamic relationship between these two types of ‘monistic associations’: what are the paths that lead from one to the other? What about ‘pluralistic organisations’?

From recognition-claiming to radical associations

Considering the descriptions of rare disease associations in a number of studies (Wexler 1996, Bach 1998, Callon and Rabeharisoa 1999, Stockdale 1999, Novas 2005), it seems that a radical association is the type of organisation that has elicited the greatest scholarly interest. In France, the French Muscular Dystrophy Association (AFM) has thus been the subject of several studies (Paterson and Barral 1994, Bach 1998, Callon and Rabeharisoa 1999, Rabeharisoa 2003). These studies allow one to say that this is an association of parents, who make decisions on their own, even if they take the advice of a scientific council, and whose goal is primarily the funding of scientific research. Bach’s very detailed history of the relationships between lay people and biomedical professionals within the AFM suggests that the transition from a recognition-claiming association to a radical one was made possible by the unexpected success of the first large-scale television-based fund-raising campaign of 1987. Thus, Bach quotes the former AFM president, who declared after this first fund-raising event: ‘the situation is radically different: before, we could only ask, without offering in return. Since December 6, the balance of power has shifted’ (1998: 252).

Thus, the key difference between mere recognition-claiming associations and radical associations may not be found in the leading category of stakeholders, since this may be parents (AFM), health professionals (ABCF Mucoviscidose) or others (Afirmm), with different goals in each case (research in general, or a specific area of research, or the development of a potential cure). It does not seem to result from the specific characteristics of the disease, as both recognition-claiming and radical organisations include genetic (notably CF and muscular dystrophies) and non-genetic diseases (mastocytosis), and very different types of organisations (pluralistic as well as radical) may match the same disease (CF). Rather, it is the access to financial resources that seems to induce the shift from one type to the other. Regarding ‘pluralistic associations’, the history of those studied here suggests they may turn into monistic ones, generally after a group split from the original organisation, but the contrary does not seem to have happened.

Discussion

This study highlights that it is not so much the patient/doctor or lay/expert opposition that determines the actions of rare disease associations but rather the composition of the leading group, a leadership shared between several categories of stakeholders being a contrast to a leadership exerted by a single stakeholder category, whatever this one is, be it health professionals, patients or their relatives, or other stakeholders. This is why one should be extremely cautious when addressing ‘patients’ organisations’ and ask whether they are indeed led by patients.

The typology presented here may be a useful complement to the expanding ‘health movement’ studies (Brown and Zavestoski 2004), although both perspectives are radically different. The rare disease associations as a whole may be considered as matching all the ideal types of social movements in health: health access movements (as they support the implementation of specific healthcare services targeting rare conditions), embodied health movements (as the experience of being rare is a key dimension of the emergence of these groups), and constituency-based health movements (as these associations joined together on the basis of the rarity of their members). However, a closer look a the organisations themselves shows that they are extremely different, and the success of their challenging medical policy and practice is very likely to depend on these organisational differences.

A well-known existing typology for ‘patient’ organisations draws on the study of the French Muscular Dystrophy Association (AFM) (Rabeharisoa 2003) to describe the different models of relationships between ‘patients’ (actually, very often relatives of the patients) and professionals within these organisations. This typology distinguishes an ‘auxiliary model’, in which medical professionals take the medical decisions, whereas what is non-medical is devoted to lay members; an ‘emancipatory model’ that rejects the intrusion of medical professionals and claims that the patients know better what is good for them; and a ‘partnership model’ in which the lay persons have the lead regarding all decisions, including the most scientific ones, and promote a specific form of knowledge, namely ‘experiential knowledge’.

This typology is actually a sub-set of the one presented here. Both the ‘auxiliary’ and the ‘partnership’ models match the ‘monistic radical associations’, since one category (respectively researchers and families) has the monopoly of decision making, and specifically of scientific decision making. The ‘emancipatory model’ also matches the monistic case, since it is characterised by the homogeneity of the group members and it pursues the same objective as ‘recognition claiming monistic associations’, by advocating for stigmatised or excluded minorities. However, this ‘emancipatory model’ misses the fact that patients are not the only group that may engage (willingly or not) in this type of ‘we know better’ or ‘we deserve more’ functioning, but also relatives or even health professionals (for instance, non-conventional practitioners or subordinate health professionals such as nurses). Last but not least, the ‘pluralistic organisations’do not appear at all in this typology, since it wrongly assumes that stakeholders cannot co-operate on an equal footing in a disease-related organisation.

This comparison highlights how important it is to adopt a view of mutual relationships that is adapted to collective action when studying it, and that does not draw on the model of therapeutic relationships. A common underlying assumption in ‘patient’ organisations studies is that it is necessary to reverse the balance of power present in the therapeutic relationships by providing lay people with a decision monopoly within these associations. But this focus on the therapeutic relationships at the expense of consideration of the diversity of stakeholders appears as being inappropriate. Indeed, as a now classical study in organisation theory (Armstrong 1977) demonstrated, through the thorough analysis of a role-playing case, stakeholder diversity is a powerful means to achieve social responsibility regarding corporate governance: whereas 79 per cent of the role-playing groups that represented only one category of actors, namely stockholders, took socially harmful decisions, this was only the case of 22 per cent of the groups that represented a broad range of diverse stakeholders. The results presented here are in line with this study.

This suggests that, in a normative perspective, and contrary to what is often assumed, ‘pluralistic organisations’ are likely to perform better. This would deserve further study. The interviewees in ‘recognition-claiming monistic associations’ generally expressed their desire to see their organisation evolving into a pluralistic one, and the possibility of such an evolution is an issue for investigation, since it did not appear in this study. On the contrary, several ‘recognition-claiming monistic associations’ were created by people who had broken away from a ‘pluralistic organisation’. The interviewees in ‘radical monistic associations’ had no such critical view of their organisation. This points to the important question of the options that are available for the stakeholders who do not have the lead in these associations, and seem to choose ‘loyalty’ rather than ‘voice’ or ‘exit’.

Lastly, this study has several limitations. It focused only on organisations dedicated to rare diseases that face a strong constraint. It is limited to nationwide organisations, which excludes a myriad of local associations, and in particular associations which act as service providers in a definite geographic area. The relationships between associations in federations or coalitions were not addressed here, but it could be a fruitful topic in the frame of health-movements research. Two of the ‘pluralistic associations’ and one of the monistic ones interact with foreign associations dedicated to the same disease and/or national organisations devoted to broader causes (namely chronic illness and disability), but it does not seem to have an impact on their inner organisation. However, this aspect deserves further investigation. Finally, this survey is limited to the French case, and its results are in some regard different from similar studies that were conducted elsewhere (Stockdale 1999).

Footnotes

  • 1

     Interviews with founding physicians (5 May 2004, 18 June 2004) and a founding parent (26 April 2003).

  • 2

     Interview with an employee (3 June 2004).

  • 3

     Interview with a physician (14 March 2005).

  • 4

     Interviews with physicians (18 June 2004, 14 March 2005) and a parent (26 April 2003).

  • 5

     Interviews with an employee (3 June 2004), physicians (17 January 2005, 14 March 2005) and a parent (14 October 2004).

  • 6

     Interview with a physician (14 March 2005).

  • 7

     Interview with a patient (3 April 2005).

  • 8

     General Assembly (12 March 2005).

  • 9

     Association’s activity reports.

  • 10

     Interview with an employee (3 June 2004).

  • 11

     Interviews with parents (6 July 2004, 5 January 2005).

  • 12

     Interview with a parent (6 July 2004).

  • 13

     Interview with a parent (6 July 2004).

  • 14

     Interview with a parent (18 September 2004).

  • 15

     Interview with a physician (7 January 2005).

  • 16

     Interviews with patients (19 January 2005, 11 March 2005).

  • 17

     Interview with a parent (6 July 2004).

  • 18

     Informal discussions at the General Assembly (6-8 May 2005).

  • 19

     General Assembly (12 March 2005).

  • 20

     Interview with a parent (7 March 2003).

  • 21

     General Assembly (6–8 May 2005).

  • 22

     Interview with a parent (6 July 2004).

  • 23

     Interview (30 June 2004).

  • 24

     Interview 19 March 2003.

Ancillary