Rare disease action plan

Ministerial Foreword, Maree Todd MSP, Minister for Public Health, Women's Health and Sport

Rare diseases may be individually rare, but they are collectively common: it is estimated that around 412,080 people in Scotland have a rare disease.

The Scottish Government is absolutely committed to ensuring that all those people living with a rare disease are able to access the best possible care and support, and benefit from healthcare services that are safe, effective, and person-centred.

This is a significant challenge for our healthcare services: although rare diseases are collectively widespread, there are thousands of different rare diseases and each one can require highly specialised treatment.

This means that people living with rare diseases can face the prospect of a long 'diagnostic odyssey' before they are accurately diagnosed and able to access treatment. The various aspects of their treatment and care also often lack coordination.

It is vital then that we continue to strive for improvement and ensure that all those living with a rare disease get the right diagnosis faster and can access coordinated care and specialist treatment.

We have worked closely with the UK Government and other devolved nations to produce a new UK-wide Rare Disease Framework in response to the concerns raised by the rare disease community in the National Conversation on Rare Diseases survey.

This Action Plan has been developed through significant engagement with the rare disease community and I thank Genetic Alliance UK for their facilitation of this. Through our combined efforts we can ensure that we are putting those living with a rare disease at the heart of policymaking, ensuring this meets the needs of the rare disease community in Scotland whilst reaping the benefits of a four-nations approach.

In addition to this, the work of the Rare Disease Implementation Board (RDIB) for Scotland continues to lead the way in our efforts to support the rare disease community. I would like to thank Dr Jonathan Berg for his chairing of RDIB since its inception and am pleased that our Genomics work will continue to benefit from his expertise. RDIB members and their new chairperson will continue to steer our direction of travel over the lifespan of the UK Framework.

While we made good progress through the UK Rare Disease Strategy in 2013 under our previous implementation plan - It's Not Rare to Have a Rare Disease^[1] - we recognise that there is continued room for improvement, and that there are always new challenges to address.

This plan will feel different to our previous documents. We want this plan to evolve over time and be reflective of the changing rare disease landscape. Our plan will be reviewed regularly with actions refreshed and renewed, taking advantage of the innovations we have seen as a result of our recovery from the Covid-19 pandemic amongst other advances in diagnostic therapies. We will continue to engage with the rare disease community throughout this process and beyond to hold us to account on our actions, ensuring we are ambitious in our delivery for people with a rare disease.

I am confident that the actions set out here will ensure we continue to make progress in how rare diseases are researched, diagnosed and treated here in Scotland, and will make a real difference for people in Scotland living with a rare disease.

Maree Todd MSP