Netherlands Family Attends Rare Disease Conference

Jan Jongerius and Chantal Dupree represented the IWSA at the first symposium of “Zeldsamen” (acronym of “rare” and “together”) in the Netherlands. The event was held in Utrecht and convened both healthcare professionals and parents to share information and create new insight on how to manage the challenges faced by families of rare disease patients.

Through discussions between professionals and parents, attendees addressed a number of topics that would be most helpful to parents, including:

• Case manager/Care-coordinator--someone, not necessarily a healthcare professional, who guides families on both medical and practical topics
• Care path, a roadmap/checklist per diagnosis or combination of diagnoses with similar features
• Information-sharing and connecting families on an online platform for all rare diseases (for example waihonapedia.org)
• Buddy-system lifecoach
• Family events
• First guidelines/direction through geneticist
• Center of expertise international (Netherlands, Belgium, Germany) European Research Network (ERN)