Rare disease community: open letter

To: Rare disease community
From: Maree Todd, Minister for Public Health, Women’s Health and Sport

As we approach the sixteenth annual international Rare Disease Day on 28 February 2023, 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 such an important reminder of the challenges faced by those with a rare disease, many of whom are children, and commit to actions that will improve the lives of those living with a rare disease. As part of our new Action Plan for Rare Disease, which I will go into more detail below, we are committed to making the most of Rare Disease Day.

It is important to recognise the ongoing challenges facing our NHS right now. This is against the backdrop of an extremely difficult fiscal position as well. However, 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 want to embed the needs of those living with rare diseases and their carers to have the support they need to navigate the healthcare system, and they should be empowered to do so if they wish.

As part of that commitment, the Scottish Government has published our Rare Disease Action Plan for Scotland on 19 December 2022, in response to the UK Government and other devolved nations UK Rare Diseases Framework which was published on 9 January 2021. This new Scottish Action Plan for Rare Diseases will address the four key priorities from the 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.

We have designed Scotland’s Action Plan for Rare Disease as an iterative process, meaning that this document is by no means our final Action Plan. This publication sets out the short to medium term actions that we will take over the next 18 -24 months. After this, we will be able to take stock of our progress so far and plan the next iteration of our Action Plan. This flexibility will make us more agile in responding to the constantly changing health and social care landscape, and new developments in treatment, care and research studies. We will continue to review our Action Plan over the lifetime of the UK Rare Diseases Framework in this way.

We will continue to engage with the rare disease community throughout this process and develop metrics to measure the implementation of our own Plan – ensuring it benefits those at its heart. We remain committed to taking a person-centred approach in all of the policies we deliver.

With that in mind, it’s vital that we also continue to put lived experience at the heart of our Action Plan by engaging with the rare disease community further on the future on the Plan, in partnership with Genetic Alliance UK. Last year we held several events with more planned for this year, 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 a busy time ahead of us, and I am grateful to the Rare Disease Implementation Board, particularly the departing Chair Dr Jonathan Berg and Genetic Alliance UK, for all of their support. Together we will improve the lives of those living with a rare disease.

I just want to finish by saying that Rare Disease Day is an opportunity to truly maximise our awareness-raising powers for rare diseases. In the past, the Scottish Government has supported Rare Disease Day through Parliamentary events, lighting up buildings in homage to the day as well as publishing an open letter to the rare disease community. We will seek to optimise and build on the day’s events in the future to support the delivery of our awareness raising priority. We are keen to work with stakeholders to develop a suite of events which engage a broad range of people including clinicians, senior leadership in NHS Boards and those working within primary care. So please look out for future opportunities on how you can support us.

I hope this letter provides assurance of our ongoing commitment to the rare disease community and to continue 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.