What, if anything, is specific about having a rare disorder? Patients’ judgements on being ill and being rare

Abstract

Background  Growing efforts are made to improve the situation of persons with rare diseases, but the specific nature of these disorders remains unclear.

Objectives  To establish (1) to what extent people with rare disorders think that their disease’s rarity causes particular difficulties, (2) to what extent these difficulties relate to other causes than rarity (i.e. other characteristics of the disease or other components of the illness experience), (3) to what extent the rarity of the disease may relate to components of patients’ experience other than those that are traditionally addressed (i.e. personal or daily life aspects).

Methods  Semi‐structured interviews with 29 patients and 15 parents of children with one of six rare diseases (cystic fibrosis, fragile X syndrome, Wilson’s disease, mastocytosis, locked‐in syndrome and a sixth syndrome). The interviews were conducted in France. The analysis draws on French pragmatic sociology and focuses on the participants’ judgements of their experience.

Findings  The participants considered as normal and acceptable a range of situations that are often viewed as specific to rare disorders and unfair. This rather positive evaluation was conditional on some specific moral criteria being met. The participants attributed the cause of their difficulties to the failure of health professionals to meet these criteria. In the participants’ experience, disease‐related associations play a key role and rarity seems to contribute to making them especially important.

Conclusions  Patients’ experience would be considerably improved if health professionals more often fulfilled their moral expectations, especially regarding diagnosis disclosure and information. (250 words)

Background

With the adoption in 2000 of the European Regulation on Orphan Medicinal Products, intended for diseases affecting less than five persons out of 10 000 in the Member States, the European Union officially confirmed the existence of a public health category, namely rare diseases. This category had already been acknowledged in other countries, appearing in the United States of America in 1984, and being subsequently adopted by Japan, South Korea, Singapore, Taiwan and Australia in the 1990s. The introduction of the category seemed necessary to remedy the weakness of development efforts in the pharmaceutical industry, ¹ , ² the paucity and dispersal of medical information, and the unsatisfactory health care provision for rare disorders. ³ Many aspects of rare diseases make them unique regarding public health actions and epidemiology. ⁴ , ⁵ Contrary to the major contemporary diseases, such as AIDS or cancers, there are few information campaigns and large‐scale screening programmes (except for a small number of rare diseases), which makes it difficult and of little meaning to compare the medical and social data concerning rare diseases with similar data concerning very common diseases. Moreover, rare diseases as a whole represent an utterly heterogeneous group of 5000–8000 disorders. ⁶

As growing efforts are made to improve the situation of patients with rare diseases, knowing precisely to what extent these diseases actually are particular and need particular public health policies has become crucial. Some commentators started wondering if these endeavours are actually grounded. ⁷ It is often assumed that the specific nature of rare diseases is to be found in the discrepancy with a reference situation, namely that of common diseases. This reference situation is viewed as a goal by some spokespersons for people with rare diseases, who characterize it as follows: the disease is quickly diagnosed, the physician is able to answer most questions asked by the patient and efficient drugs are available. ⁶ But this scheme is often not evident in practise, even for common diseases. Many emergent diseases and mental health conditions, for example, are still poorly attended to. Besides, non‐medical issues played a key role in the history of the category of rare diseases. It originated in some physicians’ and some patients’ moral claims for, on the one hand, a fair treatment of patients with rare diseases in a context of growing health expectations, ⁸ and on the other hand, a clear definition of each stakeholder’s responsibilities in a context of criticism of pharmaceutical firms’ behaviour that was deemed excessively profit‐seeking. ¹ Moral and political issues have been at stake and should not be underestimated.

Many studies have adopted a population‐based approach of rare diseases, but the patients’ viewpoint on having such a disorder has remained unattended. ⁹ The objective of this study was to establish, on the basis of the experience of these persons: (1) to what extent they believe that the rarity of their disease is the cause of their difficulties regarding this disease, (2) to what extent these difficulties relate to other causes (i.e. other characteristics of the disease, or other components of the illness experience), (3) to what extent the rarity of the disease may relate to components of patients’ experience other than those that are traditionally addressed (i.e. personal or daily life aspects).

Methods

This research was conducted in France and empirically grounded on a sample of six rare diseases (defined as having a prevalence below 5/10 000). The sample included patients and parents of patients with cystic fibrosis, fragile X syndrome, Wilson’s disease, mastocytosis, locked‐in syndrome and a syndrome that is especially infrequent, affecting only five persons in France, and that will be termed simply Very Rare Syndrome, in order to protect the confidentiality of the patients and their family.

These disorders were selected to cover a range of characteristics that seemed likely to affect the experience of the patients, beside rarity itself. The Table 1 below presents the disorders and these characteristics. ¹⁰

Table 1.

 The six disorders and their characteristics in France

Characteristics of the diseases	Fragile X syndrome	Cystic fibrosis	Wilson’s disease	Mastocytosis	Locked‐in syndrome	Very Rare Syndrome
Estimated number of affectedpersons in France	10 000	5000	1500	800	250	5
Origin	Genetic	Genetic	Genetic	Unknown	Accidental	Genetic
Typical age at presentation of the disease	Childhood	Childhood	Early adulthood	Any age	Adulthood	Childhood
Symptoms	Learning difficulties and behavioural troubles (shyness, autism)	Bronchial and rhinosinusal symptoms, pancreatic insufficiency and liver disease	Accumulation of copper in the body, with hepatic, neurologic or psychiatric presentation	Accumulation of mast cells in one or several organs, there are different types of mastocytosis	Complete paralysis, inability to speak, but fully preserved mental capabilities	Several organs are affected
Treatment	None	Symptomatic	Three different specific drugs	Symptomatic	None	Symptomatic
Impact on life‐expectancy or current life‐expectancy	None	40 years	None if treated adequately, a few months otherwise	Variable (lethal in 10% of the patients)	Variable	Variable
Public presence (collective action, notoriety)	A small parents’ association	A large, well‐known, association of parents and patients	A small association of patients and parents	A small association combined with a biotech firm	A small association for a condition a book made famous	A tiny association

The selection of participants followed a two‐step procedure. First, in order to identify health professionals who had encountered many patients with one of the diseases in the sample, the associations dedicated to each of the disorders were contacted, because they were easy to identify, and because some disorders in the sample do not benefit from a specialised follow‐up by hospital service. Then, the project was discussed with these physicians and a psychologist, and they identified potential participants. Prior to the interview, those were provided with a short description of the study, they were given the option to accept or not, they were informed that the interviews would be fully tape‐recorded and transcribed, and that their personal information would remain secret. During the interviews, they were reminded that they were free to not answer questions that they did not want to and to interrupt the interview whenever they wanted to. However, no formal ethical review was performed, because, as often in France, this procedure was not available.

The enquiry consists in 29 interviews with patients and 15 interviews with parents. These interviews were semi‐structured. Their average length was 1 h. The same themes were covered in all cases. They were conducted by the same researcher: (1) at the participants’ home (for fragile X syndrome and the Very Rare Syndrome), at the hospital (for cystic fibrosis and Wilson’s disease) and at the association’s office (mastocytosis). Parents and patients were interviewed separately, except for three cases (two regarding Wilson’s disease, one, the fragile X syndrome). Among the 29 patients, there were 15 women and 14 men, from 20 to 47 years old, 15 participants had cystic fibrosis, 10 had Wilson’s disease, three had fragile X syndrome, and one had mastocytosis. 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 one child with the Very Rare Syndrome. The diseases impacted the occupational status of the patients, whose distribution did not match that of the general population, whereas the occupational status of the parents did. In addition to the interview work, and with the organisers’ approval, 15 meetings were attended within associations dedicated to rare diseases in general, to fragile X syndrome, to cystic fibrosis, to Wilson’s disease and to locked‐in syndrome, which allowed a more informal data collection, through informal talks with the participants. These talks covered the same themes as the interviews. They were subsequently transcribed, and compared with the data from the interviews.

Data analysis draws on French pragmatic sociology ¹¹ , ¹² that suggests considering the judgements of ordinary people as an authentic research topic. This view is based on the fact that these judgements must meet socially defined requirements for acceptability and generality if they are to be granted legitimacy in the public space as well as in social interaction. These requirements lead people to go beyond the scope of their own situation and to articulate evaluations that convey information on the objective requirements for an action to take place or for a precise social situation to be accepted. As a result, these judgements shed light on the implicit conditions for a social phenomenon or on the underlying values that are present in a situation.

Here, the overall aim was to identify the cause of negative and positive judgements on the experience of a rare disorder, in order to establish to what extent the rarity of the disorder is an issue, by comparison with other characteristics (such as the genetic origin, the deadly course of the illness, the lack of notoriety and the fear of an unknown disease, or the lack of institutional support through a specific organisation). Thus, the participants’ judgements were listed, along with their object and the circumstances of their elaboration. They related to four themes: diagnosis, information, treatments and meeting other people with a rare condition.

Findings

Exploring the participants’ judgements with respect to the research questions resulted in the following findings. (1) Contrary to what is generally assumed, the rarity of a disease is not considered by the persons with such a disease to be the cause of specific difficulties, and the patients and their relatives consider as normal and acceptable a range of situations that are often viewed as unfair and specific to rare disorders. (2) However, this rather positive evaluation was conditional on some specific moral criteria being met. The participants attributed the cause of their difficulties to the failure of the health professionals to meet these criteria, not to the disease itself, nor to some other characteristics (i.e. genetic origin, deadliness, severity). (3) In the participants’ experience, disease‐related associations play a key role, which seems rather specific to rare diseases. Patients and their relatives express a strong aspiration to meet either other persons with the same disease or other persons who are facing another rare disease.

The judgements that the participants elaborated are examined regarding the classical themes of diagnosis, information and treatment. Then, the participants’ aspiration to gather with similar persons is examined. The diseases are analysed separately when this is necessary The differences between the patients themselves and their parents are discussed regarding each of the themes.

Diagnosis: a need for human consideration rather than speed

Delayed diagnosis is often mentioned as one of the major features of rare diseases. ¹³ However, the participants’ judgements related to their moral experience of the diagnostic process, not to its more objective characteristics. They expected physicians to express an awareness of their own limitations, while taking seriously their worries and trying to disclose the diagnosis in appropriate ways. When the physician fulfilled these expectations, the patients did not experience a hard time waiting for the right diagnosis.

Although the interval between the onset of the disease and the diagnostic was rather long for most participants, they generally did not consider it an issue. For the participants with Wilson’s disease, the average interval between the onset of the symptoms and the diagnosis was 2 years, and the median interval was 1 year. For the Very Rare Syndrome, this interval was 5 years. For the participants with fragile X syndrome, the average age at the time of the diagnosis was 7 years, and the median age was 5 years. For the participants with cystic fibrosis, the diagnosis took place at birth in half of the cases. An inquiry conducted by the French association dedicated to locked‐in syndrome evidenced an average interval of 78 days between the occurrence of the condition and its diagnosis, in a sample of 44 participants. ¹⁴ I could not collect such data for mastocytosis.

Only a minority of four out of 44 participants resented not being diagnosed immediately. However this minority did not complain about the long interval between the disease’s onset and the diagnosis but rather the health professionals behaving in a way they deemed inappropriate.

The majority of the participants did express very firm views on what they believed to be acceptable about the diagnosis and its disclosure. They were very critical of three attitudes. The first one was that of health professionals’ refusing to seek assistance to remedy the limits of their knowledge. As a participant with Wilson’s disease explained: ‘I do not have a grudge against the GP, because it’s not his job. I’m not saying he didn’t do the job (...) A GP cures small things, but not specific things. He can’t. (...) I blame him for not saying: “I don’t know, I’ll direct you to someone else”’. This clearly indicates the participant’s acceptance of the physician’s ignorance. The second attitude that was deemed unacceptable relates to diagnosis disclosure, a crucial moment in the experience of illness. ¹⁵ The participants criticized physicians’ inability to perform it in terms that are adapted to the patients’ and their relatives’ situation. For instance, the mother of a little boy with fragile X syndrome explained that diagnosis disclosure proved an ordeal, although her son was diagnosed remarkably early, before his third year: ‘Then, I experienced the hell of my life, because (the paediatrician) did not have the words to say it. So he took his piece of paper (she mimics him, taking a sheet of paper and immersing in reading to hide a deep embarrassment) and said, “Well, your son is stupid”. Obviously, when you are a mum, it’s a thing…’. The third attitude that the patients blamed health professionals for was their not taking seriously their aspirations and worries. An extreme example of this attitude consisted in the physician telling the patient, as reported a man with Wilson’s disease and three mothers of children with fragile X syndrome: ‘you have nothing, it’s just in your head’.

Diagnosis disclosure relates to very similar views among the patients and their relatives. Both expect to be listened to, to be directed appropriately, and to be provided with explanations that they can understand and that are respectful of their own person and/or of their child. It seems that health professionals tend to be less respectful when they are faced with parents, maybe because they consider that those are not directly affected.

Information: the quest for appropriate guidance, not mere knowledge

It is broadly admitted that medical knowledge is unsatisfactory for most rare diseases. ⁶ , ⁸ , ¹⁶ It appeared in the study that, if the patients were conscious that the progress of medical knowledge regarding their rare disease should improve its treatment, medical knowledge was not their first concern. They selected among the information they had been provided with what was most related to their daily life and their personal projects, and they quickly confused or forgot general information that they judged irrelevant in this regard. Their concern is mainly a moral one, i.e. it is related to their conception of what a good life is and of what the right way to behave is.

Their first aspiration was to be informed in order to be able to act in a way that allows them to reach their own goals. For this reason, the non‐medical advice that health professionals provided them with often proved extremely helpful. This was the case at the time of diagnosis disclosure for a woman whose daughter has fragile X syndrome, as she explained: ‘I will always remember, my first question, our first question was, “will she live?”, because we had been told so many times that she probably had a serious illness. It was our first question. (The physician) said “yes, of course”, so we thought, “well, it’s perfect”. And he said something else, that struck me, because our little girl was only six. He said, “if your daughter reaches adulthood bearing in mind what she is, you will win”. This struck me.’ The interviewee reported this advice was in her eyes the most valuable that a physician had given her regarding her daughter. Second, the patients’ action‐oriented perspective brings them and their relatives to view the disease according to a hierarchy in which abilities prevail over inabilities. This view stands in contradiction with the medical view, which is intrinsically based on deficiencies. Many parents remembered that their first question at the time of the diagnosis had been ‘what will my child be able to do?’. This perspective is not the one health professionals spontaneously adopt, although they could, as illustrated by the aforementioned example. Indeed, the physician provided the parents with a direction for their action, and this direction was based on a view of the child as able to achieve a specific attitude, not on deficiencies.

The nature of the information patients and parents wish to be provided with is very similar, i.e. action‐oriented and ability‐related, whereas the themes that this information relates to are different, since they mostly relate to everyday life experience.

The treatment issue: moral versus treatment

In a historical perspective, ¹ , ² drugs are a crucial aspect of the rare diseases issue. Contrary to what is commonly assumed, the lack of treatment was not resented by the patients, under certain circumstances, and the availability of efficient treatments does not solve their difficulties. Rather, the participants’ judgements rest on a moral approach, based on the distinction between what is morally acceptable (i.e. earnest efforts to improve health and social care) and what is not acceptable (i.e. the provision of misleading information about the pace of medical progress or refusal of access to known cures for profitability reasons), within the limits of medical knowledge, and whatever the disease.

The quest of a cure is not deemed the absolute goal that one could have expected. Most participants were satisfied with honest and reasonable efforts to gradually improve their situation. Cystic fibrosis provides a good example of a rare, life‐expectancy shortening disease that benefits from important healthcare and research efforts. This situation is somewhat exceptional among rare diseases, but the enquiry interestingly suggests these efforts, and especially their sincerity, are judged adequate by the patients, and contribute to mitigate the absence of cure. The 15 participants with cystic fibrosis considered their condition in relation to what they deemed an acceptable and legitimate situation, not by comparison with an ideal situation that would be that of common disorders. On the one hand, they were very conscious that medical progress is slow and arduous, and on the other hand, they did not tolerate these difficulties being taken lightly or ignored. For instance, they were extremely critical of the hasty and erroneous predictions that followed the discovery of the cystic fibrosis gene in 1989. As a participant with cystic fibrosis explained: ‘They claimed it was a discovery that would revolutionize... They pledged things for the next five or 10 years, they really pledged... And it was a very serious mistake’. On the other hand, they value the actions taken in the field of care organisation and the subsequent improvements they experienced, such as the reduction in the amount of time spent at hospitals or the access to social assistance. The absence of a more effective treatment regimen was not painfully experienced by these participants, to the extent that efforts are being made and are producing tangible results in their daily lives, and that medical advances are not presented in a manner they deem misleading. This is not specific to such patients. ¹⁷

By contrast, the availability of efficient drugs does not fully erase the feeling that the rarity of a disease makes it a particular experience, as Wilson’s disease exemplifies. Three different and efficient drugs are available to French patients with this condition. ¹⁸ However, patients sometimes give up their life‐saving treatment because it is so efficient that it leads them to doubt they have a disease after all. One of the two participants with Wilson’s disease (out of 10) who had given up their treatment explained: ‘You know, when you have to take a tablet every day (he waved his hand over his head, in sign of weariness)... I didn’t know, I had not been told that if I stopped... (he speaks quicker and louder) I had been told, but I had not been told that consequences could be so serious...’. In addition, although the persons who have Wilson’s disease may appear as privileged by comparison with others with a rare disease, the corresponding association tends to be increasingly active, and its activities are extremely similar to those, for instance, of the cystic fibrosis association: improving healthcare, supporting research and connecting patients and their families. More so, the patients and their families express their need for such an organisation, and especially for a place where they could meet other people with this disease. This suggests that the experience of a rare disease entails more than is often assumed.

Treatment issue exhibits a remarkable discrepancy between patients and parents. The patients themselves only very seldom express high expectations regarding future improvements. They focus on the contrary on incremental progress in healthcare and daily life. The parents’ views are symmetrical: they systematically expected that a cure could be found in the future, thanks to massive research efforts.

Feeling rare and remaining isolated: an unbearable situation?

The aspiration to meet other people with a rare disease was massively shared by the participants, whatever their disease and its characteristics, genetic or not, curable or not. Thus, 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 have a child with fragile X syndrome are members of an association dedicated to the syndrome or, in only one case, to intellectual disability in general. According to the estimated prevalence reported in medical literature about the locked‐in syndrome, mastocytosis 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 plays a key role in the organisation of care in France, making it difficult for patients to avoid contact with it, whereas problems of cross‐infections can arise when patients come together physically, which is a potential obstacle to such meetings.

The importance of the associative phenomenon was further analysed in the interviewees’ discourse by combining two questions, in order to match the perception of having a rare feature with the relationships with others. Thus, the first question relates to the person’s identity: to what extent is the fact of having a rare disease perceived an important or, on the contrary, unimportant feature of one’s identity? The answer to this question was provided by the way the participants depicted themselves and the following aspects: did they describe themselves as sick or very affected by the disease? Did they express the feeling of being different from others (e.g. a feeling of being displaced, being misunderstood, having particular features that are not shared outside the circle of those affected)? The second question relates directly to relationships with others: what types of people does the participant aspire to meet? Does (s)he try to meet other people with the same disease or does (s)he try to avoid them?

The answers to these two questions resulted in four theoretical cases; 40 interviews were relevant in this regard (some participants talked about their associative commitment rather than on their own experience, so the interviews did not provide enough information to determine which of the last two theoretical cases they matched):

• • The person does not wish to meet other people in the same situation and she does not view herself as having any rare feature (12 persons, patients and relatives).
• • The person does not wish to meet other people in the same situation and she views herself has rare in some regards, (no participant matched this situation).
• • The person wishes to meet other persons in the same situation and she does not view herself as having any rare feature, (eight persons, mainly relatives).
• • The person wishes to meet other people in the same situation and she views herself has rare in some regards, (20 persons, relatives and patients).

Matching theoretical cases with empirical data suggests that it is extremely difficult both to feel rare and to remain isolated from other people with the same feature. None of the participants were in such a situation. This implies that, once illness has become an important aspect in the life of a person with a rare disease, this person will try to meet other people with the same affection. When the disease is so rare that this is not possible, the person may try to meet people who also have a rare disease, whatever it is. Within this inquiry, three persons in this situation were identified. Hoping to meet people who had an experience of rarity, they participated in an association dedicated to a rare disease, although they did not have this particular disease. They were seeking answers to several moral questions: can they consider themselves as truly badly off? How to imagine a happy life with the disease? How to lead a good life, i.e. feeling useful and being cheerful? Thus, the encounter with people who have a disease that is medically very different remains meaningful, because the moral experience is similar enough.

These findings are coherent with many views the participants expressed about the role of associations. Thus, a participant with cystic fibrosis explained about the hypothetical future of the association, after the equally hypothetical discovery of a cure: ‘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”. (...) 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…’. Meeting other persons with the same rare specificity is crucial for the patients and their family, and a key feature of the rare disease experience, whatever the characteristics of the diseases. Lastly, joining an association is often easier for the parents than for the patients themselves.

Discussion

The participants did not view rarity as major source of difficulties, their own judgements on their experience being even rather positive regarding a range of situations that are often viewed as unfair and specific to rare disorders. However, this somewhat unexpected evaluation occurred under the condition that health professionals behave in a way that meets with the moral needs of the patients and their relatives, and, conversely, the participants attributed the cause of their painful rare disease experience to the failure of health professionals to meet these expectations. Regarding the diagnosis, the participants insisted that they strongly expected human consideration at diagnosis’ disclosure, whereas a timely but awkward disclosure could turn out to be highly damaging. Regarding information, they wished to be provided with appropriate guidance and not mere knowledge. The lack of medical information may thus be mitigated by adequate, comforting and action‐supporting moral advice regarding daily life. Regarding the availability or not of a treatment, the lack of treatment may be mitigated by efforts to improve daily life, and the availability of a treatment does not result in a situation similar to that of common diseases. Indeed, even in this case, the participants voiced their need for disease‐related associations. This is a key feature of rare disease experience, that may result from the diseases’ rarity and the feelings of isolation, invisibility and powerlessness it breeds.

Two different categories of persons have been considered in this study, patients on the one hand, parents on the other hand. Whereas the judgements of both categories regarding diagnosis disclosure and the provision of information are very similar, this is not the case for treatment issues. This comparison suggests that the needs of these categories regarding health professionals’ attitudes may be addressed efficiently in similar ways, but that their respective expectations regarding collective action are likely to diverge. Schematically, parents’ associations will tend to support medical research, and patients’ associations, healthcare improvement.

The participants’ experiences are similar, whatever their disease. This is not so surprising, given that their needs are mainly moral, not medical ones. As a participant reported about a meeting of several rare disease associations: ‘We had many common features in our experience, in our struggle to raise awareness about ourselves and about our disease, to be accepted as citizens and as patients’ representatives, to be listened to. But we did realise, and it became suddenly obvious, that we were very isolated’. Actual differences did appear when more medical issues were discussed with the participants (such as screening, treatment options), but it remains the case that there were no major differences regarding what they deemed acceptable or not. There seems to be a certain unity of rare disorders in this regard, that probably displays common features with common diseases. The specific nature of rare disorders seems then to lie in the particular need to meet others in the same situation.

These results are novel regarding the study of rare diseases. The lack of interest for a human perspective in this field, ⁸ and inquiries based on focus groups ¹⁹ , ²⁰ that fulfilled patients’ wishes to meet together have contributed to obscure the collective, associative dimension within rare diseases’ experience, in spite of the key historical role that rare disease associations have played. ¹ Yet the enquiry has three main limitations. It was limited to the French case. It neglected the health professionals’ viewpoint, although it deserves to be thoroughly described. What do they feel challenging, what are their own needs, and what kind of responses have they devised for these particular conditions? Lastly, the enquiry aimed at covering the widest possible diversity of diseases in a small sample. However, rare diseases are so heterogeneous and so numerous that this objective was bound to encounter limitations. In particular, although an acute disease, namely mastocytosis, was included in the sample, it proved difficult to investigate. It is an important issue, as the outcomes of this study may mostly apply to chronic rare diseases, whereas acute rare diseases would present a different picture.

Conclusion

The participants strongly expressed an aspiration to feel morally well‐treated as a patient, which includes the feeling of being listened to, of being taken seriously, and of being supported and informed according to one’s needs. In this regard, the disease experience presented here suggests that better fulfilling these expectations would greatly improve the subjective situation of patients with a rare disease. For this purpose, better understanding the views of health professional regarding rare diseases, and particularly the difficulties they encounter in meeting these very patients’ needs, is necessary. The lesser importance of fostering care provision and medical innovation is quite novel and deserves further investigation.

Conflict of interest

None.

Funding

This study was funded by a doctoral grant of the École des Mines de Paris.