Rare diseases are those that affect a small number of people, five or fewer in 10,000 people. There are between 6000 and 8000 rare diseases that affect approximately eight percent of the population in Scotland. That means approximately 412,080 people out of a population of 5,151,000 in Scotland have a rare disease.
Rare diseases can also be life-limiting and life-threatening and disproportionately affect children. 75% of rare diseases affect children and more than 30% of children with a rare disease die before their fifth birthday.
We remain committed to making sure that the lives of people living with a rare disease and their families continue 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.
Scotland's has had its own implementation plan for rare disease since 2014. We are developing a new action plan to take forward the 4 key priorities from the UK Rare Disease Framework to:
- help patients get a final diagnosis faster
- increase awareness of rare diseases among healthcare professionals
- provide better coordination of care
- improve access to specialist care, treatment and drugs
The Scottish Rare Disease Implementation Board, Chaired by Dr Jonathan Berg, Senior Lecturer and Honorary Consultant in Clinical Genetics and NHS Research Scotland Lead for Genetics and Rare Diseases, have been meeting since August 2021. The Board oversee that work and discuss how we will undertake the development of the rare disease action plan for Scotland.
We have also worked with Genetic Alliance UK to establish a rare disease Patient Voices Group to ensure the lived experiences of the rare disease community are embedded into our policies. We will also carry out further engagement over 2022 to ensure their lived experience remains at the heart of our action plan development and its implementation.
We will publish our action plan by the end of 2022. The plan will set out the short to medium term actions that we will take over the next 12 to 18 months. After this, we will be able to take stock of our progress so far and publish the next iteration of our action plan. This flexible approach will make us more agile in responding to the constantly changing health and social care landscape, and new developments in treatment, care and research studies. We will continue to update our action plan annually over the next five years in this way.
Rare Disease Day 2022
Rare Disease Day is an annual event giving the rare disease community an opportunity to raise awareness amongst the general public and decision-makers about rare diseases and the impact on patients' lives.
Ahead of Rare Disease Day 2022, which took place on 28 February, Maree Todd MSP, Minister for Public Health, Women’s Health and Sport published an open letter confirming our ongoing commitment to the rare disease community. The Minister also addressed a virtual reception on 1 March 2022 to mark Rare Disease Day in Scotland, to further set out the work the Scottish Government is doing and to commend all the work being done to ensure the voices of those living with rare diseases are listened to.
- Rare disease: final progress report (March 2021)
- 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
- Genetic Alliance UK, with the support of people living with rare, genetic and undiagnosed conditions, have developed a Rare Resources Toolkit of information and support for people in Scotland. You can find this, and details of organisations supporting people with rare conditions on the Genetic Alliance UK website.
- information on NHS Scotland's national networks is on the NHS Services Scotland website
- Orphanet is a website for in depth rare disease information
- Office for Rare Conditions, Glasgow which is supported by the Glasgow Children’s Hospital Charity, the University of Glasgow and Greater Glasgow & Clyde NHS Board