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.
Today most adults with phenylketonuria (PKU) have followed a protein restricted diet from early infancy. This makes their disorder an invisible impairment which becomes visible only when food is served. When adhering to medical advice in public, adults with PKU find themselves in a liminal space, betwixt and between being medically ill and socially healthy. The affected adults may pass as being 'normal' if they ignore medical advice and eat ordinary food. By doing this, they risk severe neurological health consequences. Due to the rarity of this illness and limited knowledge regarding the health consequences of dietary intervention in adulthood, implications of adult PKU can be difficult to explain to others. Conscious stigma-handling strategies are therefore required. This article, which is based on qualitative interviews, discusses stigma and management strategies in the lives of eleven adults aged 20-30 with PKU.
If persons with phenylketonuria (PKU) do not start a protein restricted diet in early infancy, they will suffer severe brain damage. Previous qualitative research on adults and adolescents with PKU has identified stigmatization, uncertain risk perceptions, considerable time spent on preparing food, and incongruence between the PKU diet and certain lifestyle demands. The aim of this study was to explore young and early treated Norwegian adults' experiences, by conducting in-depth interviews in 2011 with 11 adults with PKU, aged 20-30. Being the first qualitative study on people with PKU in Norway, the process was inspired by grounded theory. All participants reflected on their own health and existence by expressing positive counterfactual thoughts. They considered themselves lucky to have had parents who had managed the diet, they were grateful for the time and place they were born, and for information and treatment availability, although the results also show some ambiguous attitudes towards the hospital which provided the treatment. The expression of gratitude in association with having PKU suggests a major positive coping strategy. It contributes to a more holistic understanding of the experiences and attitudes of young, Norwegian adults with PKU, as it provides a counterweight to the negative experiences.
Bleeding disorders are genetic conditions which involve impaired blood clotting. This may lead to disability. The predominant symptoms usually differ depending on biological sex, which implicates that the disabling mechanisms of bleeding disorders are gendered. Here we review sexspecific symptoms from bleeding disorders and how they can disable gender identities. We found that men's masculinity can be compromized by sickliness, economic dependency and reduced ability to participate in sports and other risk-taking activities. Women's femininity, on the other hand, can be compromized by challenges related to their fertility and cultural misconceptions concerning menstrual hygiene. Both men and women with bleeding disorders experience a general lack of understanding in society at large regarding their unique problems. Women in particular are subject to late diagnosis and disbelief, due to a common misperception that bleeding disorders exclusively affect men. Theories on hegemonic masculinity and femininity provide a framework for understanding the sex-specific consequences of bleeding disorders in a disability perspective, and suggest that lack of hegemonic masculine or feminine properties may advantageously be compensated for in life areas that remain unaffected by the bleeding disorder.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.