OBJECTIVES: To understand the impact of a rare disease (RD) on patient and their families socially, economically, interpersonally and on their quality of life (QoL).

METHODS: Eight hundred participants were recruited for an international survey, leveraging a RD stakeholder panel. All participants had to be a RD patient or a caregiver of RD patient, >=18 years of age and reside in Germany, Spain, the United Kingdom (UK) or the United States (U.S). Participants completed an online survey outlining their (or their family member’s) experience living with RD, including the impact of RD.

RESULTS: Survey participants included 100 from Germany, 168 from Spain, 252 from the UK and 280 from the U.S; 78% were RD patients, 15% were caregivers of a RD patient, and 7% represented both patient and caregiver. Over 300 unique RDs were represented within the study cohort. Overall, 77% of participants with a RD experienced economic hardship related to their disease; 27% reported spending >10,000 EUR/USD out-of-pocket related to RD medical expenses. Over two-third (71%) reported that RD severely impacted their QoL. Majority (82%) reported that their RD affected the time they spend with friends or family, and 70% of these stakeholders felt excluded from social events. Furthermore, 84% of respondents reported having an RD impacts the relationship with the family; 81% felt they were a burden to their family and friends.

CONCLUSIONS: Overall, Rare diseases severely impact patients and their families in multiple aspects of their life, including their economic, personal and social domains. More social and economic support network for families and patients with rare diseases is needed to alleviate their disease burden.