Abstract
Background: In this study, we determined the social, interpersonal, economic, and quality-of-life impact of rare disease in adult patients and caregivers of children of Germany, the United States, Spain, and United Kingdom with rare disease.
Aim: To assess the social, interpersonal, economic, and quality-of-life impact of rare disease on adult patients and caregivers of children with rare disease.
Methods: An online international survey was conducted with 800 participants from Germany, Spain, the United Kingdom and the United States. All participants were required to be over 18 years old and either diagnosed with a rare disease, or be the caregiver of an individual with rare disease. All participants were recruited through the Rare Patient Voice database and outreach program.
Results: Most participants associated rare disease with quality of life impairment, and negative impact on their family relationships and social environment. Patients experienced social limitations, including exclusion from social settings or reduction in time spent with friends and family. Additionally, many participants reported feeling like a burden to their caregivers and facing financial hurdles. Their work productivity and performance were also affected, depending on the severity of their rare disease.
Conclusion: Rare diseases have a profound impact on both patients and their caregivers, affecting them socially, medically, and economically. To improve their well-being, it is essential to establish better support networks, financial assistance programs, and psychological support. Moreover, raising social awareness around rare diseases is crucial to ensuring appropriate social inclusion and support for affected individuals.