doi: 10.1111/j.1369-7625.2009.00552.

What, if anything, is specific about having a rare

disorder? PatientsÕ judgements on being ill and
being rare
Caroline Huyard PhD
Associate Researcher, Groupe de Sociologie Politique et Morale, École des Hautes Études en Sciences Sociales, 10 rue Monsieur
le Prince, Paris, France

Abstract
Correspondence Background Growing efforts are made to improve the situation of
Caroline Huyard persons with rare diseases, but the specific nature of these disorders
Associate Researcher
Groupe de Sociologie Politique
remains unclear.
et Morale
École des Hautes Études en Sciences
Objectives To establish (1) to what extent people with rare disor-
Sociales ders think that their diseaseÕs rarity causes particular difficulties, (2)
10 rue Monsieur le Prince to what extent these difficulties relate to other causes than rarity (i.e.
F-75006 Paris
other characteristics of the disease or other components of the illness
France
E-mail: c.huyar@orange.fr experience), (3) to what extent the rarity of the disease may relate to
Accepted for publication
components of patientsÕ experience other than those that are
20 March 2009 traditionally addressed (i.e. personal or daily life aspects).
Keywords: illness experience, moral Methods Semi-structured interviews with 29 patients and 15 par-
expectations, rare diseases
ents of children with one of six rare diseases (cystic fibrosis, fragile X
syndrome, WilsonÕs 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
participantsÕ 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 participantsÕ experience, disease-related asso-
ciations play a key role and rarity seems to contribute to making
them especially important.
Conclusions PatientsÕ experience would be considerably improved if
health professionals more often fulfilled their moral expectations,
especially regarding diagnosis disclosure and information. (250
words)

 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370 361
362 PatientsÕ judgements on being ill and being rare, C Huyard
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 exis-
tence 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 neces-
sary 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 com-
pare 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 actu-
ally 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 spokes-
persons 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.
 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370
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 physiciansÕ and some
patientsÕ 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 stake-
holderÕs responsibilities in a context of criticism
of pharmaceutical firmsÕ 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 patientsÕ
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 patientsÕ 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, WilsonÕs 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 confi-
dentiality 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
 PatientsÕ judgements on being ill and being rare, C Huyard 363

Table 1 The six disorders and their characteristics in France

Characteristics Fragile X Cystic WilsonÕs Locked-in Very Rare

of the diseases syndrome fibrosis disease Mastocytosis syndrome Syndrome

Estimated 10 000 5000 1500 800 250 5

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

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 disor-
ders 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 psycholo-
gist, 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 participantsÕ home (for
fragile X syndrome and the Very Rare Syn-
drome), at the hospital (for cystic fibrosis and
WilsonÕs disease) and at the associationÕs office
(mastocytosis). Parents and patients were inter-
viewed separately, except for three cases (two

 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370
364 PatientsÕ judgements on being ill and being rare, C Huyard
regarding WilsonÕs 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 Wil-
sonÕs 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 WilsonÕs 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 addi-
tion to the interview work, and with the organ-
isersÕ approval, 15 meetings were attended
within associations dedicated to rare diseases in
general, to fragile X syndrome, to cystic fibrosis,
to WilsonÕs 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
sociology11,12 that suggests considering the judg-
ements of ordinary people as an authentic research
topic. This view is based on the fact that these
judgements must meet socially defined require-
ments 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 situa-
tion 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 phe-
nomenon 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 estab-
lish 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
 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370
an unknown disease, or the lack of institutional
support through a specific organisation). Thus,
the participantsÕ judgements were listed, along
with their object and the circumstances of their
elaboration. They related to four themes: diag-
nosis, information, treatments and meeting
other people with a rare condition.
Findings
Exploring the participantsÕ judgements with
respect to the research questions resulted in the
following findings. (1) Contrary to what is gen-
erally 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 dis-
orders. (2) However, this rather positive evalu-
ation 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 character-
istics (i.e. genetic origin, deadliness, severity). (3)
In the participantsÕ experience, disease-related
associations play a key role, which seems rather
specific to rare diseases. Patients and their rela-
tives 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 elabo-
rated are examined regarding the classical
themes of diagnosis, information and treatment.
Then, the participantsÕ 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 participantsÕ judgements related to their
 PatientsÕ judgements on being ill and being rare, C Huyard 365
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 ful-
filled 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
WilsonÕs 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 condi-
tion and its diagnosis, in a sample of 44 par-
ticipants.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 diseaseÕs 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 disclo-
sure. They were very critical of three attitudes.
The first one was that of health professionalsÕ
refusing to seek assistance to remedy the limits
of their knowledge. As a participant with Wil-
sonÕs disease explained: ÔI do not have a grudge
against the GP, because itÕs not his job. IÕm not
saying he didnÕt do the job (...) A GP cures small
things, but not specific things. He canÕt. (...) I
blame him for not saying: ‘‘I donÕt know, IÕll
direct you to someone else’’Õ. This clearly indi-
 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370
cates the participantÕs acceptance of the physi-
cianÕs ignorance. The second attitude that was
deemed unacceptable relates to diagnosis dis-
closure, a crucial moment in the experience of
illness.15 The participants criticized physiciansÕ
inability to perform it in terms that are adapted
to the patientsÕ and their relativesÕ situation. For
instance, the mother of a little boy with fragile X
syndrome explained that diagnosis disclosure
proved an ordeal, although her son was diag-
nosed remarkably early, before his third year:
ÔThen, 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, itÕs a thing…Õ. 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 WilsonÕs disease and three
mothers of children with fragile X syndrome:
Ôyou have nothing, itÕs just in your headÕ.
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 expla-
nations 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 par-
ents, 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 knowl-
edge regarding their rare disease should improve
its treatment, medical knowledge was not their
first concern. They selected among the infor-
mation they had been provided with what was
most related to their daily life and their personal
366 PatientsÕ judgements on being ill and being rare, C Huyard
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 diag-
nosis disclosure for a woman whose daughter
has fragile X syndrome, as she explained: ÔI 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, itÕs perfect’’. And he said something else,
that struck me, because our little girl was only
six. He said, ‘‘if your daughter reaches adult-
hood bearing in mind what she is, you will win’’.
This struck me.Õ The interviewee reported this
advice was in her eyes the most valuable that a
physician had given her regarding her daughter.
Second, the patientsÕ action-oriented perspective
brings them and their relatives to view the dis-
ease 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 Ôwhat will my child be
able to do?Õ. 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.
 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370
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 treat-
ment was not resented by the patients, under
certain circumstances, and the availability of
efficient treatments does not solve their difficul-
ties. Rather, the participantsÕ 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 med-
ical 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 par-
ticipants were satisfied with honest and reason-
able 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 interest-
ingly 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 consid-
ered 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 errone-
ous predictions that followed the discovery of
the cystic fibrosis gene in 1989. As a participant
with cystic fibrosis explained: ÔThey 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 mis-
takeÕ. On the other hand, they value the actions
taken in the field of care organisation and the
subsequent improvements they experienced,
 PatientsÕ judgements on being ill and being rare, C Huyard 367
such as the reduction in the amount of time
spent at hospitals or the access to social assis-
tance. 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 Wil-
sonÕs disease exemplifies. Three different and effi-
cient 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
WilsonÕs disease (out of 10) who had given up their
treatment explained: ÔYou know, when you have to
take a tablet every day (he waved his hand over his
head, in sign of weariness)... I didnÕt 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...Õ. In addi-
tion, although the persons who have WilsonÕs
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 dis-
ease. This suggests that the experience of a rare
disease entails more than is often assumed.
Treatment issue exhibits a remarkable dis-
crepancy between patients and parents. The
patients themselves only very seldom express
high expectations regarding future improve-
ments. They focus on the contrary on incre-
mental progress in healthcare and daily life.
The parentsÕ views are symmetrical: they sys-
tematically expected that a cure could be found
in the future, thanks to massive research
efforts.
 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370
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 WilsonÕs 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 dedi-
cated 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, mast-
ocytosis and the Very Rare Syndrome, the cor-
responding 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 phenome-
non was further analysed in the intervieweesÕ
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 personÕs identity: to what
extent is the fact of having a rare disease per-
ceived an important or, on the contrary, unim-
portant feature of oneÕs identity? The answer to
this question was provided by the way the par-
ticipants 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?
368 PatientsÕ judgements on being ill and being rare, C Huyard
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 per-
sons, 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 par-
ticipants 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 sit-
uation were identified. Hoping to meet people
who had an experience of rarity, they partici-
pated in an association dedicated to a rare dis-
ease, 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.
 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370
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: Ôthe 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…Õ.
Meeting other persons with the same rare spec-
ificity 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 pro-
fessionals 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 par-
ticipants insisted that they strongly expected
human consideration at diagnosisÕ 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
 PatientsÕ judgements on being ill and being rare, C Huyard 369
treatment does not result in a situation similar to
that of common diseases. Indeed, even in this
case, the participants voiced their need for dis-
ease-related associations. This is a key feature of
rare disease experience, that may result from the
diseasesÕ 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 diag-
nosis disclosure and the provision of informa-
tion are very similar, this is not the case for
treatment issues. This comparison suggests that
the needs of these categories regarding health
professionalsÕ attitudes may be addressed effi-
ciently in similar ways, but that their respective
expectations regarding collective action are
likely to diverge. Schematically, parentsÕ associ-
ations will tend to support medical research, and
patientsÕ associations, healthcare improvement.
The participantsÕ 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: ÔWe
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 patientsÕ representatives, to be listened to.
But we did realise, and it became suddenly obvi-
ous, that we were very isolatedÕ. Actual differences
did appear when more medical issues were dis-
cussed 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 groups19,20 that fulfilled patientsÕ wishes to
meet together have contributed to obscure the
collective, associative dimension within rare
 2009 The Author. Journal compilation  2009 Blackwell Publishing Ltd Health Expectations, 12, pp.361–370
diseasesÕ 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 professionalsÕ 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 out-
comes 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 aspira-
tion 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 oneÕs 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 pro-
fessional regarding rare diseases, and particu-
larly the difficulties they encounter in meeting
these very patientsÕ needs, is necessary. The
lesser importance of fostering care provision and
medical innovation is quite novel and deserves
further investigation.
Acknowledgements
I am grateful to all the persons who accepted to
take part in the study.
Conflict of interest
None.
370 PatientsÕ judgements on being ill and being rare, C Huyard
Funding
This study was funded by a doctoral grant of the
École des Mines de Paris.
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