International Rare Diseases Day: An open letter

Dear Rare Disease Community,

I would like to take this opportunity to update you on Scotland’s position with regards to rare disease policy, particularly on the seventeenth annual international Rare Disease Day, a particularly important awareness raising event and extra special this year as it falls of 29 February – the rarest day of all.

Over the past year I have been privileged to meet with those of you who live with rare conditions and hear about your personal journeys. The lived experience and stories of those within the rare condition community helps inform our Action Plan in Scotland. I would like to thank each of you how have taken time to share your experience and your dedication in seeking to raise awareness of rare conditions.

Rare Disease Day provides us all with an opportunity to reflect and recognise on the challenges faced by those with a rare disease, many of whom are children. People living with a rare condition and their families can face not only a lifetime of complex care, but their condition can affect every aspect of their lives, from their education through to employment and financial stability.

That is why I want to reaffirm that the Scottish Government remains committed to continuing to improve the lives of people living with a rare disease. We want to continue to ensure those with a rare disease have access to the best possible patient centred care and support.

As part of that commitment, we have been taking forward our Rare Disease Action Plan published in December 2022. It sets out how we will deliver the four key priorities from  the UK Rare Diseases Framework: to help patients get a final diagnosis faster; to increase awareness of rare diseases among healthcare professionals; to provide better coordination of care; and to improve access to specialist care, treatment and drugs.

It is important to recognise that this work has taken place, and will continue to take place, in a challenging delivery environment. Whilst the challenges facing our NHS right now have had an impact on progress in some areas, it does not lessen our commitment to progressing the priorities in the Action Plan. Despite these challenges, considerable progress has been made in the last 12 months:

• In June 2023, the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS), which now sits within Public Health Scotland, went live and has begun registering births from the start of 2021 onwards as well as continuing to integrate linked datasets. Data from the registry will now begin to inform annual reporting and policy development.

• Last month, we published a new patient information page on NHS Inform. The page contains information to help those living with a rare condition and where they can seek further support.

• Genetic Alliance UK & the Office for Rare Conditions conducted a survey of healthcare professionals across Scotland to understand their experience of rare conditions, from May to October 2023. The survey was well received with a good geographical spread and diversity of roles in the responses. The output from the survey will be used to support our work raising awareness of rare conditions amongst healthcare professional, helping us identify gaps and the key areas we need to focus on to support those delivering services over the next year.

In the coming months, we will publish a progress report which will set out in detail the work that has occurred under the Action Plan in the last year. This progress report will also set out the key priorities for the next 12 months. By taking stock of our actions in this way we will be able to refresh our activities and ensure that they are aligned to the constantly changing health and social care landscape. We will also be able to reflect on what we have learned from you, members of the rare disease community, ensuring that lived experience is at the heart of our work and our Plan continues to deliver for them.

We will continue to work closely with the rare disease community to ensure their needs are appropriately reflected across wider government policy too, including mental health and social care, and ensure that rare disease continues to be embedded throughout all our work.

I am very thankful for the commitment of everyone involved in improving services and for the support provided to all those with rare disease in Scotland. I would like to thank everyone who has contributed to the success of our Action Plan so far. I am grateful to the Rare Disease Implementation Board, particularly the Chair Dr Martina Rodie and Deputy Chair Dr Ruth McGowan, Genetic Alliance UK, and the Office of Rare Conditions, for all their support.

Whilst I hope you will agree that real progress has been made in Scotland, we know that there is more to do. We must continue to build upon our successes and work together with the rare disease community to ensure those living with a rare disease receive the best possible care and support, and benefit from healthcare services that are safe, effective and person centred.

I hope this letter provides assurance of our ongoing commitment to the rare disease community and our promise to continue delivering a truly collaborative Action Plan that will ensure that health, care, and support services work for those living with a rare condition, their families and those involved in their care.