Rare disease community: letter from Minister for Women's Public Health and Sport

Dear rare disease community,

As we approach the fifthteenth annual international Rare Disease Day on 28 February 2022, I would like to take an opportunity to update you on Scotland’s position in regards to rare disease policy.

Rare Disease Day is a poignant reminder that indeed, it’s not rare to have a rare disease. Rare is many, rare is strong and rare is proud. Rare Disease Day is an opportunity to reflect and recognise the challenges faced by those with a rare disease, many of whom are children, and commit to actions that will improve the lifes of those living with a rare disease.

I want to reaffirm to you that the Scottish Government remains fully committed to making sure that the lives of people living with a rare disease continue to improve. We will do this by ensuring access to the best possible patient-centred care and support, so that patients can benefit from safe and effective healthcare in Scotland.

As part of that commitment, the Scottish Government is continuing to work with the UK Government and other devolved nations on our responses to the UK Rare Diseases Framework which was published on 9 January 2021. We are currently developing a new Scottish Action Plan for Rare Diseases that will address the four key priorities from the Framework:

• to help patients get a final diagnosis faster
• increase awareness of rare diseases among healthcare professionals
• provide better coordination of care
• to improve access to specialist care, treatment and drugs

We are putting the voice of lived experience at the heart of our action plan by engaging with the rare disease community, in partnership with Genetic Alliance UK, on what should be featured in the plan. We have already held several events with more planned, and I would encourage you to add your voice to that process by getting in touch with Genetic Alliance UK for further information on how you can get involved.

We have also established a rare disease Patient Voices Advisory Group to embed the voice of lived experience in not just the development of our policies, but the implementation of the action plan too. This group forms a key part of our action plan governance, supporting and advising the Scottish Rare Disease Implementation Board. 

I’d like to highlight my sincere thanks to those who have already taken part in those events or are supporting us through the advisory group. Sharing your experience and stories is truly shaping of the action we will take. 

The action plan itself will be published in the spring of this year. The plan will be different from what we have published before: many will remember from the previous strategy the list of 51 commitments. We want this new action plan to be reflective of the evolving landscape of rare disease, and indeed the world in which we live in today.

Our action plan that we publish in the spring will set out our short term actions to be delivered over the course of 12 to 18 months, whilst setting out our medium to long term ambitions. As before, we will provide progress on the plan annually, but also use this opportunity to update the plan to reflect new actions. We will continue to engage with the rare disease community throughout the five-year lifespan of the Rare Diseases Framework, and develop metrics to measure the implementation of our plan – ensuring it benefits those at it’s heart. We remain committed to taking a person-centred approach in the policies we deliver.

We have a busy time ahead of us, and I am grateful to the Rare Disease Implementation Board, the Patient Voices Advisory Group and Genetic Alliance UK for all of their support. Together we will improve the lives of those living with a rare disease.

I hope this letter provides assurance of our ongoing commitment to the rare disease community, and to co-producing a truly collaborative action plan to ensure that health, care and support services are person-centred, and take account of ‘what matters to you’ for every person affected by a rare disease.

Maree Todd, MSP

Minister for Public Health, Women's Health and Support

Copied to:

The Rt Hon Sajid Javid MP, Secretary of State for Health and Social Care

The Rt Hon Baroness Morgan of Ely MS, Minister for Health and Social Services
Robin Swann MLA, Minister of Health