Survey of patients' and families' experiences of rare diseases reinforces calls for a rare disease strategy

This paper seeks to report the key findings of two studies which were undertaken by Rare Disease UK to: understand patients' and their families' experiences of living with a rare disease; identify issues preventing research and access to good quality information, care, treatment and support; identify examples of good practice; and develop recommendations to improve service provision for patients with rare diseases and encourage research.

Across the two reports discussed, a range of methods were used including: a survey of patients/family members; five multi‐stakeholder working groups; conference workshops; a consultation paper; interviews; and desk research.

There are a number of detailed findings across the two reports. At a broad level, the findings identify that despite the diverse range of rare diseases each with different symptoms and prognoses, patients often face similar issues. The report also identifies a number of possible solutions to facilitate research, speed up diagnosis, improve co‐ordination of care and ensure high‐quality information is available to patients and professionals.

The findings and recommendations in the two reports discussed are informing the development of a UK plan for rare diseases by all four of the UK's health departments. This plan will be the first strategic approach to improving service provision for all patients with rare diseases in the UK.

Very little research has been conducted into the experiences of patients with rare diseases or on how to improve service provision for all rare diseases in the UK. As a result, the two reports offer a substantial body of new evidence.