Living with a rare disorder: a systematic review of the qualitative literature

Abstract

BackgroundIndividuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically.MethodsWe performed a systematic review, including qualitative studies on adults, published between 2000 and 2016. Papers including more than one rare genetic or nongenetic diagnosis were included. Studies based on single diagnoses were excluded except for four specific conditions: hemophilia (bleeding disorder), phenylketonuria (metabolic disorder), Fabry disease (lysosomal storage disorder), and epidermolysis bullosa (skin disorder).ResultsThe review identified 21 studies. Findings were synthesized and categorized according to three main themes: (1) Consequences of living with a rare disorder, (2) Social aspects of living with a rare disorder, and (3) Experiences with the health care system. Findings point to several unique challenges, such as the psychological, medical, and social consequences of a lack of knowledge about the condition in health care and social settings.ConclusionThe findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk factors and inform clinical practice.

Alone in a Crowd? Parents of Children with Rare Diseases’ Experiences of Navigating the Healthcare System

“…Further, participants in this study took on the role of care coordinator in order to improve care continuity and fill gaps in healthcare provider communication deficits. Again, this is congruent with previous research with individuals with RDs (von derLippe et al 2017). Given that parents of children who are not-…”

“…Given the lack of knowledge, treatments, and research on RDs, many participants in this study had to actively seek out information on their child's disorder, which is not unusual for those in the RD community (Kesselheim et al 2015). In a systematic review of qualitative research about living with a RD, the notion of "expert patient" was identified (von der Lippe et al 2017). In our study, parents became "expert caregivers."…”

Social isolation and exclusion: the parents' experience of caring for children with rare neurodevelopmental disorders

“…This is congruent with finite studies on parents' experiences with rare diseases (Galpin et al, 2017;Pelentsov, Laws, & Esterman, 2015). Compartmentalized care models within health and government supports are designed for periodic health incidents, not for complex disease trajectories such as complex rare NDDs (Grut & Kvam, 2013;von der Lippe, Diesen, and Feragen (2017). With unmet care needs, parents experienced pervasive demands and atypical family functioning.…”

Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain

“…Interestingly, while subjective health perception has been repeatedly identified as an important factor in relation to depressive symptoms in FD, the observed relation between organ complications and depressive symptoms has been less straightforward. We propose that impact of FD on patients' perceived health extends beyond the physical symptoms and complications, to more subjective factors such as uncertainty about the future, difficulties surrounding heritability and stigmatization [34,35]. In other words, complications and symptoms might have an effect on depressive symptoms, but the perception that patients have of their disease and the extent to which certain coping styles are employed will determine the individual outcome.…”