Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain

BACKGROUND: Over 7,000 rare diseases affect about 30 million people in the European Union. Living with a rare disease requires interdisciplinary care and multiple services from public systems. It is essential to have updated information about individuals affected and their families, as their needs and experiences may have evolved due to the transformations and improvements in this field over the past 15 years. This study aims to describe the perceived needs of individuals affected by rare diseases and their families, regarding healthcare, social, educational, and employment systems. METHODS: A cross-sectional study was conducted using an online survey. The sample included 291 participants, comprising individuals with a rare disease or their family members responding on their behalf due to cognitive or physical difficulties. The survey included questions about sociodemographic data, diagnostic process, healthcare and rehabilitation services, psychological and social support, financial needs, and requirements in school and work settings. Data was obtained between December 2021 and February 2022 in Catalonia (Spain). Statistical analyses were conducted using the R programming language and software environment. RESULTS: Forty-five percent of participants reported a diagnostic process lasting one to two years. Forty-eight percent were satisfied with the support received from professionals during the diagnostic process. All participants expressed a need for health care, rehabilitation, psychological, or social support, citing insufficient current resources. Nearly half received financial assistance, but it was deemed inadequate due to high disease-related expenses. Educational needs were reported by 31–66% of participants, including psychoeducational and psychomotor services. Regarding employment, 73% required remote work options. CONCLUSIONS: Delayed diagnosis and unmet healthcare, social, educational, and employment needs persist. Understanding the needs of patients with rare diseases is essential for an appropriate response from public systems. Recommendations include emphasising complete diagnosis and early assessment, and intervention plans for affected individuals and their families. Complex interventions that consider health, psychological, social, educational, and employment aspects are needed, with coordinated efforts focused on both the patients and their families.