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 436,000 people out of a population of 5,450,000 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 published the first version of our action plan for rare diseases in December 2022. This plan will evolve over time and reflect the ever changing rare disease and overall health and social care landscape. This flexible approach will also make us more agile in responding to new developments in treatment, care and research studies. We will continue to update our action plan annually over the next five years.
The action plan addresses the four key priorities from the UK Framework:
- 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 have been meeting since August 2021. The Board was first Chaired by Dr Jonathan Berg, Senior Lecturer and Honorary Consultant in Clinical Genetics and NHS Research Scotland Lead for Genetics and Rare Diseases. The Board oversaw that work and discussed how we will undertake the development of the rare disease action plan for Scotland. As of April 2023, Dr Berg has stepped down from RDIB to take up the role of Rare Disease Clinical Lead with the Scottish Genomics Network. Replacement RDIB Chairs will be appointed in due course.
We also worked alongside 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 2023 to 2024 to ensure lived experience remains at the heart of our action plan development and its implementation. We will continue to engage with the rare disease community throughout the implementation of our action plan and beyond. This will hold us to account on our actions, ensuring we are ambitious in our delivery for people with a rare disease.
Rare Disease Day 2023
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 2023 (28 February 2023), 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 parliamentary reception on 15 March 2023 to mark Rare Disease Day in Scotland. The address further set out the work the Scottish Government will doing and commended all the work being done to ensure the voices of those living with rare diseases are listened to.
We also continued our tradition of honouring the day by lighting up the Scottish Government buildings in Edinburgh green in support of the campaign in conjunction with England, Wales and Northern Ireland. For subsequent Rare Disease Days, we will continue to work with stakeholders to develop a suite of events which engage a broad range of people including clinicians, senior leadership in NHS Boards and those working within primary care.
- 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