As we mark a year since the publication of our report ‘REDUCE, EMPOWER & IMPROVE: Addressing the shared needs of rare autoimmune rheumatic diseases,’ RAIRDA has been working to implement the recommendations of the report. There are 12 recommendations altogether, focusing on different bodies and healthcare professionals, but our overarching aims are to raise awareness of the importance of rare disease care and the need to improve it.

We know that we face a range of challenges. With Brexit on the horizon and many in the third sector fighting their cause, especially in the health field, policy recommendations don’t typically provide immediate, tangible results very quickly. With this in mind, we ensured that the report’s recommendations are very direct in targeting the bodies that can help us in our aims. Whilst we have made some significant advances, there have been peaks and troughs since publication on rare disease day 2018. 

The report set out to provide a strong evidence base, calling on the decision makers of the country to improve the lives of patients with rare diseases. It is also a means to deliver recommendations from the UK Strategy for Rare Diseases published in 2013.

Whilst the Government has provided updates to the 2013 Strategy and implementation plans in each of the four nations, we believe that there is a large focus on rare genetic conditions, with a worrying lack of focus on the 700,000 or so people living with non-genetic rare diseases. A number of our recommendations mirror those in the Rare Disease Strategy, so that our calls for change are aligned. 

For example, the Strategy calls for high quality training on rare diseases and professional development. We’ve been promoting the importance of correct care of rare auto-immune rheumatic diseases amongst professionals, working with us on their training programme for members on rare diseases.

We hosted two popular fellowships in 2018 that focused on vasculitis and scleroderma, with three more happening in 2019. Clinicians participate in interactive small group tutorials and gain hands-on clinical experience in order to develop and enhance their training in rare diseases. It is this type of training that RAIRDA will look to promote, and work with the fellowship winners in order to improve or develop their services. 

We’ve sent correspondences to the Royal Colleges for Physicians and GPs, the Parliamentary Under Secretary of State for Health and NHS Specialised Services, asking to work collaboratively with RAIRDA to ensure the best possible care for patients with rare autoimmune rheumatic diseases. Additionally, we’ve worked with The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), which records people with congenital abnormalities and rare diseases across the whole of England.

We want them to prioritise rare rheumatic diseases when creating national rare disease registers. NCARDRS help identify and register people with rare autoimmune rheumatic diseases, including promotion of self-registration, to better identify their needs, outcomes and variation in care. 

Whilst we have made a good amount of progress, there has been a few setbacks which we’re willing to learn from. For example, one key recommendation from the report is for ‘the National Institute for Health and Care Excellence (NICE) to develop Quality Standards for rare autoimmune rheumatic diseases, including access and referral targets, leading on from the British Society for Rheumatology’s NICE-accredited guidelines for these conditions.’ The development of such standards is an important part of NICE’s remit, alongside the provision of guidance for health professionals.

Unfortunately, after some exchanges, NICE denied our request, arguing that ‘quality standards set out specific actions to be taken in the care of patients, for which awareness and understanding are pre-requisites. There would therefore be better ways to address this issue.’ Whilst this feels like one step forward and two steps back, it’s important that NICE now know we exist, and also reaffirms that our focus needs to be on awareness raising. 

So, a year on from the report, we’ve held discussions with NICE, NHS England Specialised Services, the Royal Colleges and Public Health England’s NCARDRS (and equivalent bodies in the devolved nations). We’re using our report to put RAIRDA at the forefront of the rare disease conversation in the rheumatology field. We’re constantly seeking opportunities to promote our work and raise awareness of rare diseases to our extensive and diverse audience.

We’ve also attended workshops and working groups with the UK Rare Disease Forum and the UK Rare Diseases Policy Board (both governmental bodies in charge of facilitating the co-ordination of policy development and meeting the commitments set out in the UK Strategy for Rare Diseases). There is still a long way to go, and our discussions are still in their initial stages, but we’re ambitious in our aims and are motivated to provide a single and strong voice that will raise the profile and improve the quality of healthcare for patients with rare auto-immune conditions.