Presentation (CTI)

OBJECTIVES: To understand the relative impact of a rare disease (RD) on patients and/or caregivers 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, or RD patient who was also a caregiver (“both”), >=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” groups. Over 300 unique RDs were represented within the study cohort. Overall, 76%-79% of RD patients and/or caregivers experienced economic hardship related to their disease; 26%/26%/36% of patients/caregivers/both reported spending >10,000 EUR/USD out-of-pocket related to RD medical expenses; 69%/72%/77% of patients/caregivers/both felt excluded from social events; 86%/59%/82% of patients/caregivers/both felt they were a burden to their family and friends. Overall, 71%/69%/82% of patients/caregivers/both reported that RD severely impacted their QoL.
CONCLUSIONS: Overall, RD severely impacts patients and their families in multiple aspects of their life, including their economic, social and personal domains. Disease burden varied, depending on whether the respondent was a RD patient, caregiver, or RD patient who was also a caregiver of another RD patient. More social and economic support networks for families and patients with RD is needed, based on their personal situation, to alleviate their disease burden.