Reflections on the ERN ITHACA 2024 Patient Workshop in Bucharest

Abstract

The ERN ITHACA (European reference network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders) Patient Workshop 2024, held on December 12th in Bucharest, Romania, brought together over 70 participants (healthcare providers and patient advocates), to enhance support for individuals with rare genetic diseases. The workshop featured two key segments: Best Practice Sharing, highlighting innovative projects and success stories within the ERN ITHACA patient network, and The Patient Journey, which explored the emotional and psychological challenges faced by patients and families. Breakout discussions focused on building family resilience and addressing grief. Participant feedback was overwhelmingly positive, with a 4.68/5 satisfaction rating, and suggestions for improvement included more interactive exercises and extended workshop duration. The event underscored the importance of collaboration in advancing patient-centred care and will serve as a foundation for the next Patient workshop within ERN ITHACA in December 2025 in Bergen, Norway.