Diagnostic Delays and Knowledge Gaps in Rare Diseases: Part-2 of Results from a Multinational Cross-sectional Survey Depicting Psychosocial and Financial Challenges

Background: In this study, we determined the diagnostic journey and experiences of patients with rare diseases from Germany, Spain, the United Kingdom and the United States. Aim: To assess the impact of a rare disease on patients' diagnostic journey, and the experiences with healthcare providers, and their knowledge and understanding of the condition. . Methods: An online international survey was conducted with a total of 800 participants with rare disease from Germany, Spain, the United Kingdom and the United States. Participants were recruited through the Rare Patient Voice database and outreach program. All eligible participants were required to be over 18 years old, reside in one of these countries, and be affected by a rare disease or be the caregiver of an individual with rare disease. Results: Most participants with rare disease experienced a delay in diagnosis. The average time for a diagnosis was three to five years, and a participant typically consulted three to five specialists before receiving an accurate diagnosis. Overall, 54.1% of the participants have been misdiagnosed at least once. Participants with a rare disease or family members reported difficulties attaining information about their condition. Additionally, 46.0% reported that their medical team lacked insufficient knowledge about their rare disease. Conclusion: Many patients with rare diseases experience significant delays in their diagnostic journey due to lack of resources and misdiagnosis. Concurrently, the healthcare providers were not sufficiently educated on rare diseases.