Rare disease action plan: progress report 2026

4. Priority 2: Raising Awareness Among Healthcare Professionals

Healthcare professional experiences of delivering care to people affected by rare conditions in Scotland: A report for Scotland’s Rare Disease Implementation Board

Increasing healthcare professionals’ awareness of rare conditions, and encouraging them to ‘think rare’, is fundamental to the success of all our actions. When healthcare professionals are alert to the possibility of a rare condition, understand referral pathways, and can signpost patients to appropriate support, they can help reduce delays in diagnosis and enable people to access the right care more quickly.

To ensure this priority is addressed effectively, Scotland’s RDIB funded Genetic Alliance UK in collaboration with the Office for Rare Conditions Glasgow to carry out a survey of healthcare professionals in Scotland.

The survey explored healthcare professionals’ training, knowledge, confidence, information sources, and perceived needs in relation to rare conditions. It was disseminated through NHS channels and third-sector networks over six months in 2023–24. Respondents came from diverse professional backgrounds, including nurses (41%), consultants (19%), allied health professionals (12%), and GPs (3%).

Key themes explored included training experiences, challenges in diagnosis and care, information access, referral issues, and potential improvements.

The report from this survey outlined that healthcare professionals are committed and eager to support patients with rare conditions, and keen to develop their skills further. The findings show clear opportunities to strengthen training, information, guidance, and coordination. Although the challenges differ by profession - GPs seeking clearer referral routes, nurses highlighting lack of confidence and clear guidelines, and consultants identifying the need for more consistent clinical structures – all emphasise the potential to create a more connected and well‑supported system.

Addressing these issues will require a comprehensive approach:

• Create a national information hub bringing together clinical guidelines, training, and resources; the Right Decision Service is already beginning to fulfil this role, and should continue to be promoted wherever possible.
• Establish a rare conditions pathway group to expand validated care pathways.
• Strengthen support for healthcare professionals through a network of local champions and investment in care coordination models.
• Increase visibility and confidence in third-sector support groups ensuring people can easily access trusted support.

These recommendations will be considered by the RDIB as part of shaping the next phase of work to support professionals and improve care for people with rare conditions.

NHS Inform page for rare conditions

Use of NHS Inform increased significantly during the pandemic as people across Scotland sought reliable healthcare information. Building on this familiarity, NHS Inform was identified as the ideal platform to host a dedicated information page for rare conditions. Aimed primarily at people living with a rare condition and their families, with clear signposting support, the page also seeks to raise awareness of rare conditions among healthcare professionals, and the wider public.

Animated videos

In 2024/2025, the RDIB commissioned the rare conditions animation project. This project was undertaken with the assistance of NHS Education for Scotland (NES).

The aim of the animations was to increase awareness and understanding of rare conditions among healthcare professionals, while also providing accessible and engaging information for people with rare conditions and their families and carers. In doing so, the project directly supported key priorities of the Scottish Government’s Rare Disease Action Plan by improving education, communication, and shared understanding across all stakeholders.

The animations were developed in collaboration with experts in rare conditions, patient representatives, and NES ensuring accuracy, accessibility, and sensitivity. The project team placed strong emphasis on inclusivity and lived experiences, balancing essential clinical information with clear, user-friendly communication.

Two longer animations were produced. The first was directed towards healthcare professionals who may come into contact with patients and families affected by rare conditions. This animation sought to improve awareness, promote early recognition, and encourage collaborative approaches to meeting the needs of this community. The second animation was developed for patients and families providing clear, reliable information, highlighting the support available, and promoting empowerment through knowledge and shared experience.

Alongside these, a number of shorter films explored specific aspects of care and lived experience. The first video described the Realistic Medicine programme in Scotland and highlighted the role of Future Care Planning. It described how this approach can help people with rare conditions to work with their healthcare professional to create a care summary or patient passport, which can be stored within their electronic patient record. The second video focused on patient registries, showing how registries and systematic data collection can be invaluable in improving care, advancing research, and supporting people affected by rare conditions. The third video described the role of Allied Health Professionals in assisting families affected by rare conditions. This highlighted the importance of multidisciplinary working and the benefits of holistic, person-centred care.

Patient perspectives were captured through animations featuring individuals living with sickle cell anaemia, dysfibrinogenaemia, and systemic vasculitis. These personal accounts offered powerful insights into the challenges of living well with rare conditions and helped to reinforce the importance of awareness, understanding, and responsive support.

These animations are freely accessible through the NHS Inform Rare Conditions webpage, ensuring they are widely available to both professionals and the public.

Taken together, these resources represent a significant contribution to raising awareness of rare conditions among key professional groups, while also providing accessible and meaningful support for people with rare conditions and their families. They promote best practice in care planning, data collection, and multidisciplinary working, while also amplifying the voices of those living with rare conditions through first-hand accounts. By combining professional expertise with lived experience, the project has contributed directly to the strategic objectives of the Scottish Government in strengthening care and support for people with rare conditions.

The next phase of the project will focus on disseminating the animations across NHS Scotland platforms, professional networks, and patient organisations. NES will also explore incorporating the materials into training modules for healthcare professionals. Monitoring of uptake, reach, and feedback will be an important part of this work, ensuring that the resources continue to meet the needs of both healthcare professionals and the people they support.

Rare Disease Day

The Scottish Government remains committed to supporting initiatives that raise awareness of rare conditions, the most high-profile of these being International Rare Disease Day, held annually on the last day of February. We continue to use this opportunity to spotlight the rare community in Scotland. The Minister for Public Health and Women’s Health once again delivered a keynote address at the 2025 reception held at the Scottish Parliament. 2025 also saw the publication of More Than You Can Imagine: An Anthology Of Rare Experiences by Genetic Alliance UK featuring over 60 contributions from people living with a rare condition, including voices from Scotland.