Health and social challenges faced by rare disease patients in Hong Kong: a cross-sectional study

Abstract Background Literature suggests that rare disease (RD) have adverse effects on patients’ physical and psychosocial well-being. RD patients also face various challenges in their daily lives. This study aims to quantify the impact of RDs on patients in Hong Kong in terms of their sociodemographic characteristics, health-related conditions, patient experience, psychosocial support, illness perception, and self-esteem. Methods We conducted a cross-sectional survey of RD patients in Hong Kong. A mixed-mode survey approach, which included purposive, opportunity, and snowball sampling, was adopted. Participants were recruited through Rare Disease Hong Kong (RDHK) and completed a face-to-face, interviewer-administered survey( n = 176). The 127-item survey instrument covered aspects on sociodemographic characteristics, health-related conditions, patient experience, psychosocial support, illness perception, and self-esteem. Health-related quality of life (HRQL) was assessed using 12-item Short-Form Health Survey version 2 (SF-12 v2), from which a Physical Component Summary was derived for physical health, and a Mental Component Summary for psychological health. Univariate analyses and multivariate linear regression analyses were conducted subsequently to examine the associations between HRQL and sample characteristics. Results RD patients in this study were found to have poor physical and psychological HRQL compared with population norms. They also faced challenges and difficulties in their daily lives, including but not limited to economic activities, ability to work, sleep quality, activities of daily living, patient experience, psychosocial support, outlook on life, and self-esteem. Conclusions To our knowledge, this is the first study in Hong Kong that quantifies the impact of RDs on patients’ HRQL, and their experience throughout the disease journey. Due to the multi-faceted impact of RD on their patients, we opine that it is critical to adopt a capability approach that does not merely emphasize on the resourcist right and entitlement of the patients, but also ensures equality in capabilities in converting resources to outcomes they value by focusing on the social determinants of health beyond healthcare policies.