We advocate for fast and accurate diagnosis, good quality care and access to the best treatments. We actively support progress in research and engage with decision makers and the public about the challenges faced by our community.

We run two long standing projects:

– Rare Disease UK, a campaign focused on making sure the new UK Rare Diseases Framework is as successful as possible, and to ensure that people and families living with rare conditions have access to a final diagnosis, coordinated care and specialist care and treatment.

– SWAN UK supports families affected by a syndrome without a name - a genetic condition so rare it often remains undiagnosed. We are the only dedicated support network for these families in the UK."