Community Engagement Task Force CETF

The diagnostic journey is often long and difficult, regardless of which country one lives in.

SolveRD - solving the unsolved rare diseases was a research project funded by the European Commission, aiming to solve large numbers of rare diseases for which a molecular cause is not known yet. Within the Solve-RD project, EURORDIS initiated the Community Engagement Task Force (CETF) - a multi-stakeholder community of People Living With an Undiagnosed Disease PLWUD, scientists and clinicians to support the needs of undiagnosed and recently diagnosed adults and children and leave a legacy of a strengthened undiagnosed community. Wilhelm Foundation was one of the organizations.

CETF has created an infographic setting out the PLWUD's journey to diagnosis. The infographic demonstrates the diagnostic odyssey many people experience on a daily basis and presents existing resources from CETF member organizations to support PLWUD on this journey. The infographic is now also available in French, German, Dutch, Turkish, Czech, Spanish, Italian, Portuguese and Swedish.

Wilhelm Foundation also works on that the group should present information for those who still are undiagnosed, despite that they have been investigated by multiple diagnostic specialists.

Wilhelm Foundation is working on making the road to diagnosis much shorter since one knows that a delayed diagnosis can lead to irreversible damage and in the worst-case death. Our goal is that if the first specialist that the PLWUD meet don’t come to a diagnosis then the children and adolescents should be offered a genetic investigation with a whole genome sequencing as the next step.