International Rare Diseases Day 2026: an open letter

Dear Rare Condition Community,

Rare Disease Day stands as a powerful reminder of the courage, resilience, and strength shown by people and families affected by rare conditions. As we mark this important day in 2026, I want to recognise this and celebrate the Scottish Government’s progress in improving support for people living with rare conditions, and to set out how we will continue working together to shape the next phase of this journey.

I was honoured to attend the Rare Disease Day reception at the Scottish Parliament on 19 February, where I met many inspiring people and heard their experiences firsthand. The conversations shared at this event were a powerful reminder of why this work matters and strengthened my resolve to keep lived experience at the heart of shaping policy and driving progress. Over the past year, we have continued to listen closely to people and families affected by rare conditions, whose stories remain both powerful and humbling. They shine a light on the challenges people face and are essential to ensuring that policy and services truly meet their needs. My sincere thanks go to everyone who has shared their experience, raised awareness, and advocated for progress.

Above all, this day inspires us to keep striving to do better. Rare Disease Day calls us to collective action, to work side by side with communities, clinicians, researchers, and advocates to build a future where every person living with a rare condition feels seen and supported. While there is still more to do, together we can make meaningful and lasting change.

Equity is the theme of Rare Disease Day 2026. Equity is essential, not only in providing care that meets individual needs, but in driving change that removes barriers to access. I am appreciative of the work carried out by Genetic Alliance UK to make the voices of people with rare conditions heard through their survey. I look forward to reviewing the findings in due course.

We know that rare conditions often involve lifelong, complex care that touches education, employment, finances, and social inclusion. Despite continuing pressures across our health and social care system, our commitment to improving equitable, person-centred support is unwavering. Our focus continue to be:

• helping people receive a final diagnosis faster
• increasing awareness and knowledge among health and care professionals
• improving coordination of care
• enhancing access to specialist care, treatments, and medicines

Today, we are publishing Scotland’s Rare Disease Action Plan Progress Report, reflecting the progress achieved so far under Scotland’s Rare Disease Action Plan and the UK Rare Diseases Framework. This progress has been made possible through strong collaboration across government, the NHS, academia, the third sector, and, most importantly, people living with rare conditions and their families.

The point below are drawn from the Progress Report and reflect activity over the last year:

• newborn screening expanded to include Hereditary tyrosinemia type 1 (HT1) and participation in a UK National Screening Committee commissioned In-Service Evaluation for Spinal Muscular Atrophy (SMA), to support evidence based decision-making on permanently adopting SMA screening
• national data on rare and congenital conditions strengthened through the CARDRISS register, which now publishes official statistics and is part of a European surveillance network, supporting earlier detection and better service planning
• genomics in Scotland strategy, published in 2024, setting out our plan to expand access to genomic testing and build the infrastructure and workforce needed for the future
• awareness raising and signposting improved via NES explainer animations and promotion of trusted NHS resources (including the Right Decision Service and the NHS Inform rare conditions page), helping professionals “think rare” and helping families find support
• coordination of support enhanced through a refreshed Future Care Planning resources and staff training, and acceleration of our ‘digital front door’ work starting with MyCare.scot
• planning for new treatments strengthened through a review and update of the Ultra‑Orphan Pathway, prioritisation of rare‑condition medicines via the UK access pathway, and a Horizon Scanning Advisory Board preparing services for promising future therapies

Across the UK, the UK Government’s Rare Diseases Framework has been extended by one year, to January 2027. This extension is intended to allow sufficient time for meaningful engagement with people living with rare conditions and to support collaborative work across the four UK nations to inform and shape the future strategic approach from 2027 onwards. The engagement we will undertake in Scotland will ensure Scottish perspectives are fully reflected.

None of this progress would be possible without collaboration. I am deeply grateful to the Rare Disease Implementation Board, led by Dr Martina Rodie; to Genetic Alliance UK and the Office for Rare Conditions; to colleagues across NHS Scotland, academia, and the third sector; and to every volunteer, advocate, and professional who works to improve support for those affected by rare conditions.

There is more to do. By continuing to work together, grounded in lived experience, evidence, and partnership, we can deliver real, lasting improvements for people living with rare conditions in Scotland.

Thank you for your ongoing dedication and for everything you do to support this community.