Cross-ERN Transition of Care in Rare Diseases Workshop

On 27–28 February, the first ERN overarching workshop on Transition of Care in Rare Diseases took place in Ghent, Belgium. Several members from ERN CRANIO joined the workshop, thank you to Dr. Frederic Acke, Dr. Youri Anastassov, dr. Petra Kavadzieva, Rossen Kolev, Elin Weissbach, Noelle O’Mahony and Aoife Dillon for representing ERN CRANIO. Two of our participants kindly shared their experiences from the workshop. You can read their reflections below: 

Both Youri Anastassov from the Medical University of Plovidiv, Bulgaria and Aoife Dillon from the Children’s Health Ireland Hospital offered valuable insights. You will find a summary of their contributions below: 

On the 27^th and 28^th of February the workshop on transition of care in rare diseases took place in Ghent. The event was very well organized, with helpful information provided beforehand. Both Youri and Aoife emphasized that the youth panel was particularly well received. 

Aoife: “Over two days in the beautiful town of Ghent, we had the opportunity to attend an inspiring ERN workshop focused on transition in rare diseases, with representation from 22 ERNs across Europe. The meeting opened with a powerful session led by three patient speakers who shared their lived experiences of moving from paediatric to adult care. They highlighted the challenges of the “18+ cliff”, describing how many young people suddenly find themselves navigating complex services alone, often without continuity or guidance. Their stories emphasised the importance of a whole-life approach

to care and the value of having one continuous point of contact throughout the transition journey.” 

Youri: “”One of the most impactful elements of the workshop was the participation of four young adults with different rare diseases. Their exceptionally high level of culture, intelligence, resilience, and ability to articulate their care experiences, both in pediatric settings and during the transition to adulthood, left a strong impression.  

As the quotes above illustrate, the youth panel also gave space to several young patients to present their own stories. Their contributions included a presentation by Joris Voets – “Meso and Macro Perspective”, highlighting the challenges patients face at different system levels and the need for improvements across European health systems and the talk from Karsten Vanden Wyngaert – “Integrated Care and Case Management”, emphasizing the importance of holistic support and stronger integration of transitional care in national healthcare systems. 

Next to the presentations that were held during the meeting, an interactive workshop took place. Participants were divided into groups and could together discuss four key themes: communication, education, psychosocial well-being, and organization. The groups were asked to 1) identify problems in transitional care, 2) propose solutions using feedback from another group, 3) evaluate and refine these ideas. Aoife mentioned: 

Aoife: “Participants worked collaboratively to identify challenges and recommendations that were both high impact and highly feasible to implement across networks. Early priorities included appointing a named person to facilitate transition, establishing clear triggers for when transition planning should begin, and developing a concise document containing essential patient information alongside validated resources. “ 

A key takeaway that our participants highlighted was the concept of a transition passport containing essential medical information. Youri noted that this concept might be less crucial for patients with craniofacial conditions; it can be vital for other rare diseases that require specific treatments or emergency precautions. Additional recommendations included: 

Aoife: “Additional recommendations highlighted the importance of patient passports, improved communication between healthcare professionals, formal training for healthcare teams, stronger psychosocial support, and opportunities for peer connection. Central to all discussions was the need for patient-centred communication and the provision of early, accessible information to support young people and families through the transition process”  

Youri: “We also shared our experience with an electronic medical record system in use since 2013, containing over 1,600 patient records and fully aligned with GDPR requirements, an approach that could benefit other centers."

Besides the workshop, the second day also included a presentation by Hélène Le Borgne on EU policy in rare diseases which was also highlighted as insightful by our participants. The following months the ideas from the workshop will be refined and next steps will be shared by the group facilitators. The participants highlighted that they enjoyed the workshop and we want to thank them for joining! 

Aoife: "Over the coming month, the ideas and recommendations generated during the workshop will be reviewed in more detail by the group facilitators to refine priorities and identify practical next steps. While this work is still developing, the workshop provided an excellent starting point for strengthening transition supports for our patients and ensure their voices remain central to future improvements. "

Youri: Overall, the workshop left a very positive impression, offering valuable content and meaningful networking opportunities.”