Background: the UK Rare Diseases Framework is the latest policy initiative that aims to improve healthcare for rare diseases in the UK, with four priorities focussed on faster diagnosis, increasing awareness among healthcare professionals, better care coordination and improved access to specialist care and treatment. A survey of over 1,000 people living with rare diseases in the UK immediately prior to the publication of the Framework captured quantitative and qualitative data about their experiences. The qualitative analysis is presented here and compared with the content of the Framework.
Results: People living with a rare condition in the UK continue to have very mixed experiences of healthcare and our findings illustrate substantial continuing unmet needs that fall under each of the four priorities of the Framework.
Conclusions: Comparing the findings with what is emphasised in the Framework suggests specific key changes to policy and practice which might be missed by action plans developed under the Framework. The overall provision in the UK for people living with rare conditions needs to be improved and regularly reviewed, to ensure they are not being unfairly excluded from appropriate diagnosis, treatment or support.