BSR sets out priorities to improve outcomes for people with rare rheumatic diseases

Today is UK Rare Disease Day and on the day of the launch of the two-year update report on implementation of the UK Strategy for Rare Diseases, the British Society for Rheumatology (BSR) has outlined its priorities to help improve outcomes for people with rare rheumatic and musculoskeletal conditions.

The Delivering for Patients with Rare Diseases update report sets out how the home nations have delivered against the commitments of the UK strategy to facilitate early diagnosis and access to treatment for people with rare diseases, improve the co-ordination of care and promote the UK as a world leader in research in this field.  The report reveals significant progress made in relation to the 100,000 Genomes Project to make molecular diagnostics a reality, in addition to the launch of the UK’s first comprehensive rare disease registry in the form of the National Congenital Anomaly and Rare Diseases Service (NCARDRS).

Whist the BSR welcomes the strides that have been made over the two years, we believe that more needs to be done in relation to the 20% of rare conditions that are non-hereditary. These include rare inflammatory and autoimmune diseases such as ANCA Associated Vasculitis (AAV), Systemic Lupus Erythematosus, Myositis and Scleroderma; an important subgroup of rare diseases, that have thus far been overlooked by the Strategy and most of the national implementation plans.  These complex medical conditions can be difficult to identify and diagnose, with many people experiencing delays of up to five years between the onset of their symptoms and diagnosis. These delays are frustrating for the individuals, but also mean that opportunities for early intervention are missed, potentially increasing the risk of developing permanent disability and organ failure, which can be life threatening. For example, on average 1 in 9 people diagnosed with AAV are likely to die within a year of diagnosis.

The lack of focus given to these diseases was one of the main drivers for the BSR hosting a national workshop in November 2015, which brought together a range of stakeholders to help raise the priority of rare rheumatic and musculoskeletal conditions and improve patient care. A number of recommendations emerged from the workshop which the BSR will look to work with partner bodies to take forward, these include:

  • Working to improve condition knowledge across all health professionals
  • Creating a rare rheumatic and musculoskeletal disorder alliance, building on commonalities across these conditions to foster closer collaboration and knowledge sharing
  • Developing a national audit for rare conditions to help measure and drive the improvement in standards of care
  • Improving the data picture through disease registries and adoption of specific rare disease coding 
  • Promoting the development of regional co-ordinated networks of care for rare diseases

President-elect of the BSR and Chair of the Clinical Reference Group (CRG) for Specialised Rheumatology, Dr Peter Lanyon, commented “the Forum’s report is an important moment for rare diseases in the UK. We now have greater clarity on what has been achieved and what needs to be done for patients up and down the country. The BSR has a key role to play in supporting this process on behalf of people living with rare rheumatic diseases, who face the challenges of delayed diagnosis, treatment and poorly co-ordinated care, yet have been largely overlooked by policymakers. We are looking to redress this imbalance and will work with partners to improve the delivery of care for these rare conditions.” 

A view that was echoed by John Mills, Chairman of Vasculitis UK and patient representative on the Specialised Rheumatology CRG, “the Strategy has provided a much-needed focal point for discussions about how rare conditions are commissioned and managed in the UK. Whilst we recognise that in the current climate difficult choices have to be made, we ask that these are made in partnership with those most expert in this area, namely the patients and healthcare professionals.  Fora such as our CRG are crucial to informing these key decisions, which is why we call upon NHS England to safeguard their future and halt the current plans to dilute their membership.“

BSR communications:

Neil Walsh tel: +44 (0)207 842 0916