The families of people with rare diseases may have to undertake a long journey to find a to find a diagnosis (often called a diagnostic odyssey); there may be ignorance of their condition and as a result their care may be uncoordinated and individuals might not have access to the best treatment options.

The Wales Rare Diseases Action Plan aims to address these concerns by helping patients get a final diagnosis faster and increasing awareness of rare diseases among healthcare professionals, therefore promoting better coordination of care and improving access to specialist care, treatment, and medicines.

It can be found via the NHS Wales Health Collaborative webpages as can further information about the Rare Diseases Implementation Group.