Rare Disease Patient and Caregiver Perspectives on Rare Disease Diagnostic Journey: Results From an International Survey

OBJECTIVES: To understand the diagnostic journey of patients with rare disease (RD) by asking RD patients and their caregivers about insights and experiences in the healthcare system.

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.

RESULTS: Survey participants included 100 from Germany, 168 from Spain, 252 from the UK and 280 from the U.S. Overall, 66% (range: 56% (UK) - 74% (U.S)) took up to 5yrs to receive a correct RD diagnosis, while 21% (range: 15% (U.S) - 28% (UK)) took >10yrs to receive a correct RD diagnosis. Over 54% (range: 46% (Germany) - 72% (UK)) reported to have been misdiagnosed at least once in their diagnostic journey; over 72% (range: 67% (US) - 80% (Germany)) shared that it is difficult to find a clinical specialist to manage their RD. Majority (67%; range: 62% (UK) - 79% (Spain)) had to see >=3 specialists, to receive their RD diagnosis. Furthermore, 34% (range: 25% (U.S) - 40% (Germany)) reported being denied diagnostic treatment during their diagnostic journey.

CONCLUSIONS: Overall, the diagnostic journey for RD stakeholders has been prolonged, and arduous, often fraught with difficulty finding the right RD specialist, difficulty receiving diagnostic treatments, or their RD being misdiagnosed. The burden associated with RD diagnostic journey varied dramatically across the countries, with patients often experiencing higher burden in one of the studied European countries, warranting closer scrutiny in improving health care access and delivery for the RD stakeholders in relevant geographies.