Rare disease: final progress report

Introduction

The Scottish Implementation Plan, It’s Not Rare to Have a Rare Disease was first published in 2014. The title came from EU research statistics that showed whilst each rare disease only affects a small number of people (5 people or fewer in 10,000) there are actually between 6,000–8,000 rare diseases, and together these affect approximately 8% of the population. To put this in context, there are approximately 437,000 people out of a population of 5,463,300 in Scotland with a rare disease.

It’s Not Rare to Have a Rare Disease which is Scotland’s implementation plan was produced following the publication of the UK Strategy for Rare Diseases in November 2013. The Strategy included a list of 51 commitments that cover five specific themes:

• Empowering those affected by rare diseases
• Identifying and preventing rare diseases
• Diagnosis and early intervention
• Co-ordination of care
• The role of research.

The Strategy formed the blueprint for work across all the four UK nations to improve services, support patients and promote the role of research. Each nation developed their own implementation plan specific to the needs of their rare disease population.

The UK-wide Strategy included a commitment to publish a biennial report on progress against each of the commitments. The first report, ‘Delivering for patients with rare diseases: Implementing a strategy’ was published in 2016 and noted progress from the UK as a whole.

Scotland published its own progress report against the 51 commitments in February 2018 which highlighted a variety of areas requiring further progress to be taken forward in order to meet the commitments by the end of 2020.

This final progress report will evaluate the progress made against each of those 51 commitments originally set out in 2013. The report will bring our implementation plan to a natural conclusion. However, this does not mean our efforts to support the rare disease community stops.

This report will provide an opportunity to reflect on the societal, economic and technological changes that have taken place since the publication of the original strategy. It is important we use the information in this report to inform our future rare disease policy to ensure any future strategy encompasses the advancements we are seeing daily in our healthcare system in Scotland.

Each chapter of the report highlights key areas of progress against the relevant commitments and a more specific breakdown of progress against can be found in the annex at the end of the report.

It should be noted that much of the progress made towards the 51 commitments has only been made possible by working in partnership with a range of organisations out with the Scottish Government. Working with those who understand and support the rare disease community most is a priority for the Scottish Government, ensuring the rare disease community is put at the heart of any policies that affect them.