Diagnostic delay, care needs, and trust in healthcare among persons with rare disease and their next of kin living in Sweden

In Sweden, it is estimated that around half a million people live with a rare disease, and many more are affected through a family member. Despite this, little is known about patients' diagnostic journey, healthcare needs, and trust in the healthcare system. The study provides valuable insight into the diagnostic journey and healthcare experiences of individuals with rare diseases and their next of kin. An online cross-sectional survey was completed in 2021 by members of Rare Diseases Sweden. In total, 942 respondents representing 120 different diagnoses participated. Over half were people living with a rare disease (PLWRD), while the remaining respondents were caregivers to PWLRD (P-PWLRD). Slightly more than one third of the conditions involve intellectual disability, and one in five include motor impairment. Almost half involve complex healthcare needs. Most respondents were diagnosed as adults (44.4%), followed by childhood (27.9%) and at birth (16.7%). More than one third were diagnosed within six months of first healthcare contact, and nearly half within one year, while one in ten waited over ten years. Seven out of ten have consulted an expert in their condition. Those with diagnostic delays exceeding ten years were less likely to see a specialist, more likely to perceive unmet healthcare needs, and reported lower trust in healthcare and healthcare professionals.