Rare disease: final progress report

Foreword

I am very pleased to present the final progress report in my new role as Minister responsible for Rare Disease. As we approach the conclusion of the UK Strategy for Rare Disease it’s poignant that we look back over the entirety of the implementation of the 51 commitments and assess our progress.

We know from the rare disease community that they see most value in working together, expanding the pool of experience with rare disease and ensuring the patient voice is representative of the full breadth of the community. Scottish Ministers have been pleased to collaborate with UK counterparts to implement the UK Strategy for Rare Disease, an approach we know benefits those at the heart of our policies.

Since the adoption of the UK Strategy for Rare Disease in 2013, we’ve seen great advances in the diagnoses, treatment and care of rare disease but we know we must continue this momentum, ensuring we put the person at the centre of everything we do. So while the title refers to this being the ‘Final Progress Report’ please be assured our rare disease policy will continue to evolve alongside advancements in medicine and technology.

As we come to the end of the UK Strategy for Rare Diseases, we also see the end of Tracey Gillies’ tenure as Chair of the Rare Disease Strategic Oversight Group. Tracey has been a driving force behind the group. I want to personally convey my gratitude and thanks to Tracey for her dedication to this agenda. I’d also like to thank those on the Group for their support and advice to Scottish Ministers.

In the final year of implementing this strategy, we have been faced with one of the biggest challenges experienced within a generation – COVID-19. The virus affected all of us and it would be remiss of me not to acknowledge the affects this pandemic has had on the rare disease community. Throughout our public response to COVID-19 we’ve heard from many rare disease patients about the concerns and challenges they have faced. Many rare disease patients will have been advised to follow shielding measures and we know the impact this can have on an individual’s mental health and wellbeing. We have learned a lot from COVID-19 and we will continue to listen and learn from the rare disease community so those lessons inform our next steps.

To conclude, I welcome the progress made in Scotland against the 51 commitments set out in the UK Strategy for Rare Disease. You will find in this report that whilst not all of the 51 commitments will be completed, excellent progress has been made in all areas. Where more progress is needed, rest assured that these areas will feed into our next iteration of rare disease policy to ensure that the lives of people living with a rare disease continues to improve. With the publication of the new UK Rare Diseases Framework, I am committed to ensuring that the rare disease community continue to be at its heart. I look forward to engaging with you in shaping and delivering an Action Plan for our rare disease community in Scotland.

We know challenges still remain for those living with a rare disease and COVID-19 has brought this to light even more so in the final year of implementing this strategy.

We have made a lot of good progress towards the implementation of the 51 commitments which all ultimately seek to improve the patient journey to a faster diagnosis through the advances in technology, or policies such as the introduction of genomics that seek to put the person at the centre of their own care.

As we near the end of the UK Strategy for Rare Disease this report will reflect on the fullness of the progress we have made in raising awareness of rare disease along with our efforts to nurture a more integrated approach to services, which aligns with our wider efforts and to embed seamless care and support.

As Chair of the Rare Disease Strategic Oversight Group (formerly the Rare Disease Implementation Oversight Group), I have seen first-hand the commitment by many to our rare disease agenda and I am grateful to you all on getting us this far. As the next iteration of rare disease policy is developed, it will be integral, now more than ever, to ensure the patient voice is not only part of the development but throughout the implementation.

I have enjoyed my time working on this agenda and would like to thank the members of the Rare Disease Strategic Oversight Group past and present for their support and hard work. Our efforts to support the rare disease community do not stop here and I look forward to seeing the developments of the future policy.