There are wide and important areas for improvement in the care of rare disease patients. This Spanish study confirms the results found in other countries [4, 6,7,8,9,10]. One of the common characteristics of the studies carried out to date, with Australian and North American populations with rare diseases, lies on the one hand in the delay in diagnosis and in the access to treatments [7, 9, 10]. Unmet health, social and emotional needs are a constant in studies on the experience of patients and caregivers with rare diseases [4, 6, 8]. A better understanding of these needs could improve the care paradigm. There is no positive experience with the organization of the assistance process in any of the aspects evaluated through the PREM IEXPAC-rare-diseases scale. In view of these results, and from the perspective of these patients, it cannot be considered that they receive integrated care and what is most striking, they do not have the perception that they receive enough support to manage their disease autonomously. These results highlight that the objective of empowering patients who suffer from a rare disease to face the social, psychological, occupational, etc. challenges of their illness and who go beyond their medical and health care needs are far from being met [12].
As far as we have been able to find out, this PREM instrument is the first in Spain focused on the experience of patients with rare diseases. The results are similar to the findings obtained in other countries and, compared to the results of similar studies conducted in Spain with another patient profile, they show that the experience of rare disease patients is even less positive.
Patients who are routinely seen in health centers, by primary care teams, described a more negative experience than those followed in hospitals. The greater proximity of primary care in this case does not seem to be a factor that contributes to a better experience. Conversely, patients seen in primary care who have responded do not feel that their lifestyle is sufficiently respected, they do not have the perception of having an individualized therapeutic plan in which they can get involved to achieve better results, they do not perceive that there is an adequate integration of the healthcare they receive and, more importantly, they do not have the feeling that professionals at this level of care are concerned about their well-being, if we compare with the results of patients usually seen in hospitals. The health services that have specialized units, where the diagnosis, follow-up and control of the disease is done, is where patients seem to show more confidence. These units have a multidisciplinary team that handles the case, which seems to influence patients and caregivers to refer a better experience.
Caregivers of paediatric patients who have been seen in hospitals report a better experience than adults, including comparison of those patients usually seen in hospitals. These results are relevant for several reasons. Firstly, because this comparison was not available. Secondly, because it is a more demanding population [9], families and caregivers of pediatric patients express greater concern for the patient's health than for their own. Third, because it allows further research to analyze in greater detail the process of care that paediatric services have put into practice to identify its key elements for a better experience in caregivers. Until now, there has been no comparison between the experience of patients with rare diseases and the experience of patients with chronic but high-prevalence diseases. In this case, the comparison is clearly negative for the group of patients with rare diseases, in line with other qualitative studies interviewing patients or their caregivers [4, 6]. The reasons that explain these results cannot be deduced from the data obtained but probably have to do with what has been suggested in other studies that analyse the interaction between patients and professionals in this particular case [23] and that highlight the fact that professionals do not always have adequate information and that they do not show styles of practice according to the communication needs of these patients.
These results seem to suggest that the proposal that this patient profile should have reference services, with staff sensitised to the psychological and social problems that accompany these disease processes[9], may contribute to a better experience in the course of the health care received. On the other hand, they also suggest that action plans, even if they arise from the health environment, should not forget the social care needs that some families may need. In this sense and according to these results, moving forward in the coordination between the two systems seems to be an objective for the action plans of the health organisations.
The following limitations should be considered when interpreting these results. First, that the selection of subjects was not random. It could have happened that people with the worst experience so far would have been encouraged to answer. Second, the subsample size of paediatric patients had a smaller number of informants than the adult subsample. This is also the case with the male sample that is over-represented. Third, the sample is only made up of patients and relatives enrolled in the FEDER who may have a different profile from the group of people living with rare diseases in Spain. Also, it must be considered the impact of variability in the disability associated to specific patients which is very different in a same disease. This study did not analized the impact of living in a urban area vs. rural one and some other more specific contextual information that could change deeply the perception of the being caring experience.
