Rare diseases action plan: progress report

1. Introduction

Scotland’s first Action Plan for Rare Diseases was published on 19 December 2022. This Action Plan set out measures to ensure that all people living with a rare condition in Scotland are able to access the best possible care and support by putting into action the priorities of the UK Rare Diseases Framework.

Although rare conditions may be individually rare, they are collectively common, with 1 in 17 people being affected by a rare condition at some point in their lives. This means that in Scotland around 400,000 people are affected by a rare condition. Most rare conditions are chronic and will require management throughout a person’s life. This is why the work we are doing to deliver our Action Plan in Scotland is so important.

As set out in our Action Plan, our intention is that it evolves over time to reflect the changing landscape of available resources and innovation. We committed to reviewing our Action Plan to keep our actions and priorities relevant to the community of those living with rare conditions. In keeping with our commitment to listen to community feedback, this progress report also marks a shift in our language from “rare diseases” to “rare conditions” as much as is practical (“Rare Disease Day”, for example, is an established and well-recognised day of visibility). A rare condition may be caused by a disease, but we want to ensure we are always considering the person with the condition and what is required to improve their life.

This progress report is our first review.