Skip to content

Rare diseases implementation plan

Related Links

Tell us if you want any of the documents on this page in an alternative format.

A rare disease is defined as a life-threatening or chronically debilitating disease that affects five people or less per 10,000.

There are around 150,000 people affected by these diseases in Wales. 

We have developed the plan in line with our support for the UK Strategy for Rare Diseases – a commitment to a patient centred, coordinated approach.

The plan is being implemented by an implementation group which includes the NHS, government and third sector partners. Immediate priorities are: 

  • identify the approach to treatment for patients with unknown diagnosis 
  • promote these treatment ‘pathways’ throughout primary and secondary care 
  • analyse in detail the events following all diagnosis of a rare disease and make this available widely 
  • set out how feedback from patients contributes to rare disease treatment and work.