Rare Disease Scotland: progress report

Introduction

The Scottish Implementation Plan, It’s Not Rare to Have a Rare Disease ^[1] was first published in 2014. The title came from the statistics that showed whilst rare diseases in themselves affect a small number of people (the definition states 5 people or fewer in 10,000) there are actually between 6,000 – 8,000, and these affect approximately 8% of the population. To put this in context, there are approximately 424,000 people out of a population of 5,295,000 in Scotland with a rare disease.

It’s Not Rare to Have a Rare Disease was produced following the publication of the the UK Strategy for Rare Diseases ^[2] in November 2013. The Strategy includes a list of 51 commitments that cover five specific areas.

• 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 forms the basis of work across the four countries of the UK to improve services, support patients and promote the role of research. Each country has then followed onto produce an implementation plan of how this will be done.

Part of the UK 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’ ^[3] was published in 2016 and noted progress from the UK as a whole. The second report, will be published in February 2018. However, the Rare Disease Implementation Oversight Group felt that it would be beneficial to publish a report based on the progress made in Scotland. As a result, this report notes the progress that Scotland has made against each of the 51 commitments and the actions that need to be taken in order to meet all the Commitments by 2020.

There are a number of areas that may be affected by the UK exit from the European Union, however, at this point in time it is too early to say what this means fully. The Scottish Government will be working closely with colleagues in the rest of the UK to ensure that people living with a rare disease in the UK will still receive the best care and services that are available.