Progress Report on Scotland's Action Plan for Rare Diseases

Chairs foreword

As chairs of the Rare Disease Implementation Board (RDIB) we welcome the publication of this progress report. This document sets out an overarching view of the current progress made on the action plan and what further actions and priorities the RDIB hopes to advance over the next 12 – 18 months.

There is plenty of success to celebrate within the report and over the course of the last year we have created a solid foundation from which we can build. We began with a refresh of the RDIB membership to ensure representation from all stakeholders. We engaged with key organisations working in relevant areas including Genomics, the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS), Getting It Right For Everyone (GIRFE), Realistic Medicine, Value Based Health and Care, Transition, Future Care Planning and Digital Health and Care Scotland. Over the coming year, we will continue to monitor the progress of these areas and our actions closely, seeking input from those living with rare conditions to ensure that we are prioritising workstreams that matter to our community.

We recognise that there is much more to do. Those living with rare conditions and those without a diagnosis still encounter poorer than average access, experience and outcomes in healthcare services. That is why we are re-defining our priorities to ensure that everyone living with a rare condition gets the treatment, care and support they need. We will continue to strive to reduce health inequalities, lower barriers to participation in clinical research and improve the way services are commissioned in NHS Scotland.

However, the work of the RDIB in the delivery of the action plan has been limited by current financial constraints. As our NHS remains under an incredible amount of pressure, it is of vital importance that our action plan continues to evolve as our NHS recovers, allowing us to utilise finite resources judiciously.

We would like to thank all RDIB members for offering their time, expertise, and experience to our deliberations during our time as chairs. We look forward to continuing to work together alongside our colleagues across all nations of the UK to improve the lives of those living with a rare condition.

Dr Martina Rodie & Dr Ruth McGowan