Rare disease action plan

1. Introduction

A rare disease is defined as a condition which affects less than 1 in 2,000 people. However, approximately 412,080 people out of a population of 5,151,000 in Scotland have a rare disease, and it is estimated that there are over 7,000 different rare diseases.

Rare diseases are often life-threatening or chronically debilitating, and can have a wide-ranging effect on someone's life, impacting on education, financial stability, mobility and mental health.

Rare diseases can be present from birth or develop soon after, requiring substantially more care and support for children with rare diseases, or can have a later onset. They can also be difficult to identify and can require highly specialised treatments throughout a person's lifetime.

Governments therefore recognise that we must work hard to ensure that our healthcare services offer quick and accurate diagnosis as well as coordinated care and support. The Scottish Government worked closely with the UK Government, along with the other devolved nations, to produce a new UK Rare Diseases Framework. The Framework builds on progress across the 51 commitments of the 2013^[2] UK Strategy for Rare Diseases, whilst recognising new challenges and continued room for improvement.

The 2013 Strategy was a collaborative vision – between the four nations of the UK as well as between government, the NHS, research and industry. The new Framework, in the same way, forms the basis of how we will work together to improve the lives of people living with a rare disease and those who care for them. It has identified the key government priorities for rare diseases and created a vision for the future shared by all four UK nations.

This Action Plan sets out how we will implement the priorities of the Framework for the rare disease community here in Scotland. Our actions here are in response to the Scotland-specific needs identified through the Scottish Government's continued engagement with the rare disease community. The section on our approach to engagement has more information on how this was carried out.

This approach ensures that our Action Plan has the rare disease community at its heart. Throughout this Plan, we have included examples of "what matters to you": this is the first principle in supporting and promoting person-centred care, which needs to be central to all that we want to achieve.

The themes which emerged from the National Conversation on Rare Diseases have also been integral in developing both the UK Framework and Scotland's Action Plan. This survey was carried out UK-wide by the Department for Health and Social Care. Over 6,200 responses were received from people living with a rare disease, clinicians, researchers and industry. Over 400 were received specifically from Scotland.

Scotland's Rare Disease Implementation Board (RDIB) have considered this evidence base – which includes patient group representatives as well as industry, research and healthcare professionals – to identify where the Scottish Government can build on the progress made under our 2014 Implementation Plan, It's Not Rare to Have a Rare Disease.^[3]

Engaging with the rare disease community through our Patient Voices Advisory Group and other events has also been crucial to our work. Community engagement, and the voices of lived experience, will continue to support the development of future iterations of our Action Plan and the ways in which we implement actions. This will be key to ensuring that our policies take into account "what matters to you", and enable people living with a rare disease to get the most out of the priorities for their care and their lives.

This Action Plan, and the further iterations that will follow, will set out the measures the Scottish Government will take to put into action the priorities of the UK Rare Diseases Framework. We will achieve this by working with partners across NHS Scotland, third sector organisations and beyond, and continue to strive to ensure that all people living with a rare disease are able to access the best possible care and support.