Rare diseases are those that affect a small number of people – 5 or fewer people in 10,000. There are between 6000 and 8000 rare diseases that affect approximately 8 per cent of the population in Scotland. That means approximately 437,000 people out of a population of 5,463,300 in Scotland have a rare disease.
We remain committed to making sure that the lives of people living with a rare disease and their families continues to improve by ensuring access to the best possible patient centred care and support, so that patients can benefit from safe and effective healthcare in Scotland.
As part of that ongoing commitment, following the conclusion of the joint UK Strategy for Rare Diseases in December 2020 and with the support and advice of the Rare Disease Strategic Oversight Group (RDSOG) we published our Final Progress Report, which assesses our implementation and progress against the original 51 commitments in the UK Strategy and against our own implementation plan ‘It’s not Rare To have a Rare Disease’.
The final report reflects on the societal, economic and technological changes that have taken place since the publication of the original strategy. The information in the report will inform our future rare disease policy.
Post 2020 - UK Rare Disease Framework
In light of the conclusion of the UK Strategy for Rare Disease, the Scottish Government has continued to collaborate with UK counterparts to develop The new UK Rare Diseases Framework, which was published on 9 January 2021.
The Framework takes a 4 nation approach to supporting those living with a rare disease and will see nation-specific action plans being developed to take forward the framework priorities and underpinning themes: to help patients get a final diagnosis faster; increase awareness of rare diseases among healthcare professionals; better coordination of care; and improving access to specialist care, treatment and drugs.
In developing an action plan for Scotland, we will work closely with the rare disease community to ensure their needs are appropriately reflected across wider government policy too, including mental health and social care and ensure that all of these commitments are actionable and measurable.
We will also undertake extensive engagement with the rare disease community to ensure the patient voice remains at the heart of the new Action Plan.
In doing so, we will establish a new Rare Disease Implementation Board to oversee the action plan. Further details will be in the Action Plan due to be published in 2021.
If you’d like to engage with us on our future action plan please contact firstname.lastname@example.org
- Rare disease: final progress report
- More information on rare diseases is on the Rare Disease UK website
- Information and support for those affected by a syndrome without a name is on the SWAN UK website
- Information for patients, families and anyone interested in genetic conditions is on the Genetic Alliance UK website
- Information on NHS Scotland's national networks is on the NHS Services Scotland website
- Link to Orphanet – website for in depth rare disease information