International Rare Diseases Day 2025: An open letter

Dear Rare Condition Community,

I would like to take this opportunity to provide an update on Scottish Government work for rare conditions, especially as we recognise the eighteenth annual international Rare Disease Day. This day continues to highlight the challenges faced by those living with rare conditions, while also reflecting on the progress we have made in improving awareness, support, and care in Scotland. It is also an important reminder of the work still to be done and the collective effort required to drive meaningful change for individuals and families living with rare conditions.

Over the course of 2024, I have had the invaluable opportunity to listen to individuals and their families living with rare conditions. Hearing these stories and lived experience is both powerful and humbling. Your insights not only highlight the challenges you face but also play a crucial role in shaping the policies and initiatives that seek to improve support and care. Ensuring that your voices are heard remains a key priority, and I want to express my heartfelt appreciation to everyone who has shared their story, raised awareness, and advocated for meaningful change.

People living with a rare condition, many of whom are children, often require lifelong and complex care that can affect every aspect of their lives, from education and employment to financial stability and social inclusion. Recognising these challenges, the Scottish Government remains committed to enhancing support for those affected by rare conditions.

Our focus is on ensuring equitable access to high-quality, person-centred care, improving coordination across services, and driving forward initiatives that make a meaningful difference in people’s daily lives.

As part of this commitment, we continue to deliver on Scotland’s Rare Disease Action Plan, published in December 2022. This plan aligns with the four key priorities of the UK Rare Diseases Framework:

• Helping patients receive a final diagnosis faster.
• Increasing awareness of rare conditions among healthcare professionals.
• Improving coordination of care.
• Enhancing access to specialist care, treatment, and medicines.

It is essential to recognise that this work continues against a backdrop of significant pressures on our healthcare system. While these have inevitably influenced the pace of progress in some areas, our dedication to delivering the priorities outlined in the Action Plan remains unwavering. Over the past year, we have made progress in key areas, demonstrating our continued commitment to improving support and care for those living with rare conditions:

• The launch of the rare conditions information hub on NHS Inform has provided individuals and families with a trusted source of reliable information and support. This marks an important step in raising awareness and improving access to resources for those affected by rare conditions.

• Building on this, a series of video resources will soon be released to support individuals, families, and healthcare professionals in understanding and managing rare conditions. These resources are part of a broader commitment to ensuring that clear and accessible information is available to all those who need it. Live-action question-and-answer videos are also being developed and will be available later this year.

These initiatives represent progress in fostering a culture of ‘rare thinking’—encouraging greater awareness, understanding, and recognition of rare conditions across Scotland’s healthcare system. By equipping professionals with better knowledge and ensuring that individuals and families feel informed and supported, we are laying the foundation for long-term improvements in care and policy.

In August 2024, we published our first Rare Disease Action Plan Progress Report, which reflects on the achievements since the launch of the plan in 2022 and outlines our key priorities for the year ahead. This report not only highlights the progress made across all four priority areas but also serves as a strategic guide for the next phase of our efforts to enhance support for those living with rare conditions in Scotland. Since the publication of the Progress Report last year, we have been working to reflect the language preferences of the community by using ‘rare conditions’ rather than ‘rare diseases’ wherever possible. We recognise, however, that some established terms—such as Rare Disease Day—remain an important part of international advocacy. This does not diminish our commitment to using inclusive language that better represents the diverse experiences of those living with rare conditions.

We recognise that rare conditions intersect with wider health and social policies, including mental health and social care, and we are committed to ensuring that rare conditions are  embedded across all areas of government policy.

We also recognise that we can’t deliver the change required alone and we will continue to work with the rare condition community to support the delivery of our plan. I would like to express my heartfelt gratitude to all those working to improve services and support for individuals affected by rare conditions in Scotland. I am particularly grateful for the dedication of the Rare Disease Implementation Board, led by Dr. Martina Rodie and Dr. Ruth McGowan, as well as the contributions of Genetic Alliance UK and the Office for Rare Conditions. I also deeply appreciate the ongoing commitment of each and every member of the Board in advancing this important work.

While we’ve made important progress, I know there’s still much more to be done. By continuing to work together, we can build on these efforts and make a real difference in the lives of those living with rare conditions. It’s my firm belief that, with our shared commitment, we can ensure that individuals and families receive the care and support they need, tailored to their unique circumstances.

I trust this letter reflects the Scottish Government’s continued dedication to the rare disease community. We remain committed to listening, learning, and taking the necessary steps to create real, lasting improvements for those living with rare conditions.

Yours sincerely,

Jenni Minto MSP