Patient Journey through diagnosis is often long and difficult regardless in which country one lives.
SolveRD - solving the unsolved rare diseases is 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 patients, scientists and clinicians to support the needs of undiagnosed and recently diagnosed patients and leave a legacy of a strengthened undiagnosed community. Wilhelm Foundation is one of the organizations.
CETF has created an infographic setting out the patient 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 patients 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 undiagnosed meets don’t come to a diagnosis then the undiagnosed children and adolescents should be offered a genetic investigation with a whole genome sequencing as the next step.