Rare disease: final progress report

The Scottish Implementation Plan, It’s Not Rare to Have a Rare Disease was first published in 2014 following the publication of the UK Strategy for Rare Diseases Strategy in November 2013. This final report evaluates Scotland’s progress against each of those 51 commitments set out in the 2013 strategy.

1. Empowering those affected by Rare Diseases

Commitments 1-8

The Scottish Government is fully committed to empowering people in terms of their health and social care. We also remain committed to supporting person-centred care at all stages of the patient journey and public involvement in the development of healthcare services.

As information on rare diseases and their management is often more scarce and difficult to find than information on common diseases, it is of even greater importance that patients with rare diseases are supported by healthcare professionals with the information they need.

We know that patients and families actively seek information relating to managing their rare condition and anticipating how it may develop in the future. When equipped with up-to-date and reliable information people can become empowered to be experts in their condition and can make informed decisions regarding care and treatment.

Throughout the life span of the strategy there has been a great deal of progress made in empowering the rare disease community. Across a range of health conditions there are a variety of excellent models for patient involvement and information provision which could be extended across rare diseases. Some of those models have been highlighted below.

1.1 Person-centred Health Care

Healthcare Improvement Scotland (HIS) supports the healthcare priorities of the Scottish Government. HIS are currently leading a person-centred health and care programme which supports people to develop the knowledge, skills and confidence they need to more effectively make informed decisions and be involved in their own health and care which is very important for rare disease patients.

Person-centred care and support is everyone’s business and the Person-Centred Health and Care Collaborative provides a framework for change and to build momentum for reliable testing and implementation, sharing and learning across the country.

The aims of the collaborative are ambitious and success will require a team approach in the broadest sense of the word. The lasting legacy of this work will be health, care and support services that are truly person-centred and take account of “what matters to you” for every person affected by rare diseases.

Here are some examples of the person-centred models which are benefiting rare disease patients in Scotland.

What Matters to You?

This model supports NHS Scotland staff to understand what’s important to the people they are caring for and supporting and establishing a caring compassionate connection.

It is based on the principle that listening carefully to what matters to each person helps us to provide the care and support that people really need and want. It also recognises that listening is in itself is a powerful intervention.

In line with the principles of Realistic Medicine, our ambition is that conversations about what matters become a core part of how health and care services are delivered across Scotland, every day. This means rare disease patients have the opportunity to shape and influence the care and support they receive.

House of Care

The House of Care approach supports, empowers and enables people living with rare diseases to articulate their needs and decide on their own priorities through a process of joint decision-making, goal setting and action planning known as Care and Support Planning.

The House of Care approach in Scotland was originally spread across six primary care adopter sites working to make these Care and Support Planning conversations routine for those of us living with one or more long-term condition. However training is delivered on an ongoing basis to GP clusters throughout Scotland. The conversations produced through this approach are essential for self-management, shared decision-making and anticipatory care planning. The approach helps people be more involved in decisions about their care and identify what matters to them.

Health Literacy

Health Literacy is another important way to ensure that rare disease patients have sufficient knowledge, understanding, confidence and skills to cope with the complex demands of modern health care.

As an example of the importance of Health Literacy we have used the below information to demonstrate how information can be translated into more readable and understandable information for patients.


Meeting people’s health literacy needs and communicating in meaningful ways is key to delivering person-centred care. It also improves the safety and effectiveness of care, and helps address health inequalities and a cornerstone of Realistic Medicine’s drive to better support people’s needs through shared decision-making.

In 2017, we published Making it Easier - Scotland’s Healthy Literacy Action Plan. This builds on what we’ve learned so far about health literacy and sets out plans to:

  • share the learning from Making it Easy across Scotland;
  • embed ways to improve health literacy in policy and practice;
  • develop more health literacy responsive organisations and communities; and
  • design supports and services to better meet people’s health literacy levels.

Work on these objectives continues to contribute to our policies to support the rare disease community.


Health literacy is about you the patient, having enough knowledge, understanding and confidence to use the information you have been provided about your health to make informed decisions on treatment and all other parts of healthcare.

By improving health literacy it helps with making sure decisions about your health are made together with your clinician or doctor. It helps ensure that your care is not affected by unfair or unavoidable differences because of where you were born, live, work or age, these are also known as health inequalities.

The Scottish Government have developed actions on how to improve health literacy amongst people in Scotland. We’ve learned a lot already from talking with patients about their needs and we will design support and services to better meet those needs.

The actions to improve health literacy will also have a positive impact on the rare disease community.

1.2 Raising Awareness of Rare Diseases amongst Healthcare Professionals

The Rare Disease Strategic Oversight Group (RDSOG), who oversee and monitor progress towards achieving the commitments in the implementation plan, commissioned a short life working group to look at raising awareness of rare disease amongst Healthcare Professionals, especially in terms of access to information. Membership of the group included members from the main oversight group together with co-opted members representing patients, patient organisations and healthcare professionals.

The group met on several occasions in addition to hosting workshops, focused on three areas of activity:

A. Rare disease toolkits for health professionals

B. Improving information on NHS Inform

C. Accessing rare disease information for individual care

Work on the rare disease toolkit and improving information on NHS Inform has been taken forward by Genetic Alliance UK in collaboration with NHS Inform and an update can be found on the Rare Resources: Scotland Toolkit at 1.6.

In welcoming the opportunity to delve further and better understand the needs of rare disease patients, the group developed four use case personas, to show some of the challenges faced by the rare disease community and health care professionals in receiving and providing the right support in health and social care. More information on the use case personas can be found at 4.1.

The use case personas were tested through workshops with groups, and at the UK Rare Diseases Forum hosted by the Scottish Government on 29 October 2019. More information on the Forum can be found at 1.7. The personas will inform the ongoing work in delivering a Scottish health and care ‘national digital platform’ so that rare disease patients, healthcare professionals and multidisciplinary teams treating them, can use technology to access relevant real-time data and information from their health and care records in a secure and safe way. This is essential to enabling high quality care, supporting staff, empowering citizens and enabling person-centred care. This ongoing work is at an early stage and has been impacted by the COVID-19 pandemic but will continue post 2020.

1.3 Rare Resources: Scotland Toolkit

The Rare Resources: Scotland Toolkit was developed in collaboration with parents, carers and health professionals, the Toolkit provides information for families in Scotland who have recently received a diagnosis of a genetic or rare condition, who are on the journey to a diagnosis or families who have been told their child’s condition is so rare they might not get a diagnosis.

The Toolkit contains a wide range of general information on genetic, rare and undiagnosed conditions as well as information on how to access reliable information, care and support in Scotland. The Toolkit links to existing support services in Scotland and the wider Rare Resources: Scotland Project seeks to develop local knowledge networks across Scotland to raise awareness of rare conditions and reliable sources of information and support.

In 2020, in collaboration with the short life working group noted at 1.5, Genetic Alliance UK has also been working with NHS Inform to consider the way in which information for rare conditions, including the Toolkit can be made accessible through the NHS Inform website.

1.4 Capturing Patient’s Views

Care Opinion continues to provide an online route for people to share their experiences of care directly with those providing NHS services, and to engage in constructive dialogue with them about how those services could be improved. This is exceptionally important for rare disease patients.

With over 20,000 stories now posted about people’s experience of treatment and care in Scotland, Care Opinion has become a valuable source of information about what really matters to people about health and care services across Scotland, what they think works well and what could be better. By listening to the stories, staff at all levels can take action to provide the care and support people really want.

In 2019-20, 4,267 people shared their stories of health and care services in Scotland on Care Opinion. Of these stories, 71% reported positive experiences with the remaining 29% giving critical feedback of the service they received. For both types of stories, 97% received a reply to their story. The stories in 2019-20 have already been read over 800,000 times. Many of the stories have initiated changes in how health and social care services are being delivered across the NHS. These include:

Care Opinion continues to feed into rare disease policies and the stories and feedback provided on the site will be instrumental to shaping future rare disease policy in Scotland.

Hemochromatosis Patient Story from Care Opinion

I have suffered from Hemochromatosis for about 15 years and have been a regular patient at Forth Valley Hospital at Larbert. The nurses have been outstanding in Day Medicine but I have often had to wait for up to an hour for my turn because of the amount of patients and lack of staff. The parking at the hospital is not “fit for purpose” and there are never enough spaces especially at the peak times.

Cath and her team have changed everything around and I could not be more impressed. I was instructed to park at a special car park which had plenty of spaces and I walked through an automatic door directly into the Day Medicine area. I was shown to an area to wait and 1 minute later I was asked to go in and 30 minutes later I was leaving the hospital. I have to go once a quarter and it is always a day I dreaded as I never knew if I would be able to park and how long the procedure would take.

Well done all of you in Day Medicine for a really massive improvement. I cannot tell you much I appreciate what you have managed to achieve.

The Scottish Government is committed to supporting the development of a culture of openness and transparency in NHS Scotland that welcomes feedback – whether positive or negative – and uses it for improvement.

1.5 Our Voice

When launched in 2015, the Our Voice initiative was designed to support engagement in service improvement at an individual, local and national level and empower people to be equal partners in their care. This included:

  • a Voices Scotland training programme which provides people with the knowledge, skills and confidence to have their voices heard in shaping local and national health and social care services.
  • gathering Views on specific healthcare topics from public and third sector groups across Scotland.
  • a Citizens’ Panel broadly representative of the Scottish population which enabled the voices of a people to be heard on a range of important issues including what makes for a good consultation with a doctor, how to use our medicines better, and public opinion on organ tissue donation after death.
  • Citizens’ Jury, specifically engaging on shared decision making.

These tools and methods have been used to engage and involve people in a range of healthcare topics which influenced local and national healthcare policy.

Since April 2020, the Scottish Health Council evolved into Healthcare Improvement Scotland - Community Engagement and the key components from the Our Voice have been mainstreamed into the work of the Scottish Government. We continue to work closely with the Our Voice key partners and its principles underpin all that we do to ensure that rare disease patients have opportunities and support to help make a difference in the design and improve the healthcare services that matter to them.

1.6 Rare Disease Day 2020

In recognition of Rare Disease Day, the Scottish Government lit up Victoria Quay and St Andrews House buildings green on 29 February 2020 to help highlight the impact of rare diseases on patient’s lives.

Additionally, to mark the day in Scotland, Rare Disease UK hosted a parliamentary reception where a keynote speech was delivered by Joe FitzPatrick MSP, previous Minister for Public Health, Sport and Wellbeing, reaffirming the Scottish Government’s commitment to improving the lives of people living with a rare disease.

This annual event is aimed at the general public but also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone with a genuine interest in rare diseases.

1.7 UK Rare Disease Forum 2019

Patient empowerment is crucial to improving healthcare for rare diseases and we have engaged with patients through the UK Rare Disease Forum to ensure the patient voice remains at the heart of our policy development thinking.

On 29 October 2019, Scotland hosted the third annual UK Rare Disease Forum Conference in Edinburgh which was jointly co-chaired by Tracey Gillies, Chair of the Rare Disease Strategic Oversight Group and Medical Director for NHS Lothian and Alastair Kent, Independent Consultant and Co-Chair of the UK Rare Disease Policy Board.

The event provided those living with a rare disease with an opportunity to share their lived experience with rare disease clinicians, health service commissioners and government policy makers.

Almost 70 people from all across the UK attended on the day and heard presentations from a range of healthcare professionals, patient organisations and those affected by rare disease, through their powerful and very personal experiences.

The agenda focused on three key themes:

  • Scientific developments in rare disease including research.
  • Genomics – An opportunity to reflect on the development of genomic medicine and its relevance for rare diseases and then consider next steps.
  • Co-ordination of Care for Rare Disease Patients.

Feedback from the Forum survey was very positive with over 90% of people feeling that they were able to contribute their views through the various discussions and breakout sessions.

The outcomes from these discussions, breakout sessions and evidence gathered, will feed into the development of the next iteration of the Rare Disease Strategy post 2020.

Ongoing collaboration between patients and policy makers will be vital moving forward in order to build on these successes.


Email: carol-anne.redpath@gov.scot

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