Rare disease action plan

Scotland’s first action plan for rare disease sets out the actions that we, our NHS, partners and stakeholders will take to improve the lives of people in living with a rare disease. The plan supports the shared priorities of the 2021 UK Rare Diseases Framework.

5. Next steps

As can be seen from this first iteration of Scotland's Action Plan for Rare Diseases, there is much to be done to ensure that the lives of people living with rare diseases continue to improve. There are examples of good practice in a number of places: we must ensure that these are made available to all who can benefit from them, whether that is a learning resource for a healthcare professional or a care/support resource for a person with a rare condition.

The actions that we have set out in this first Action Plan will be achieved at different stages. Some things can be put in place quickly and use existing resources in smarter, better-signposted ways; others will take more time and investment and be subject to available funding. In either case, we will always work at pace to ensure that people in Scotland living with rare diseases start to notice real change. We will keep agile in responding to new developments and the rapid pace of change in health and social care, and always keep the voice of those with lived experience at the heart of this.

We will continue to work with our counterparts in the other UK nations to discuss and work together on the implementation of our actions plans. This knowledge-sharing will help us all to maximise the impact of our actions, both in our own nations and collaboratively. We will continue to share our progress at the meetings of the UK Rare Diseases Framework Board and elsewhere.

Throughout the lifespan of the Framework and our Action Plan, we will continue to engage with people living with rare diseases. We know that your lived experience is the most valuable in informing our work on what challenges need to be addressed, and it will be crucial to keep the rare disease community informed on the progress being made. We will keep working with Genetic Alliance UK and other key partners to schedule further engagement opportunities at which we can discuss our progress with you and identify further priorities for the future.

Monitoring and Evaluation

We recognise that measuring outcomes for patients, carers and families will be difficult.

However, measuring the success of our actions in the short to medium term will be achieved in different ways, depending on what needs to be measured. Work such as better signposting of awareness-raising resources can be measured by assessing their take-up among healthcare professionals, and professional and patient reported improvements in the time taken to diagnose. We will look to develop metrics by which to measure the success of our various actions, such as patient-reported outcome measures.


Email: scott.thomson2@gov.scot

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