Inquiry: Prevention inquiry in health and social care
The Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) is asking the Committee to consider in the scope of its inquiry the prevention of adverse outcomes for people living with rare autoimmune rheumatic diseases (RAIRDS).
RAIRDs, along with many other rare conditions, may not be explicitly preventable, but issues such as late diagnosis, and poor care and treatment, mean that people living with them experience preventable poor outcomes including, in some cases, premature mortality.
About RAIRDA and RAIRDs
RAIRDA is the first alliance linking clinical and patient organisations to campaign for improved care for people living with RAIRDs in the UK. RAIRDA is comprised of LUPUSUK, Vasculitis UK, Scleroderma and Raynaud’s UK, and the British Sjӧgren’s Syndrome Association.
RAIRDs are a range of conditions in which the body’s immune system damages its own tissues. In the UK, there are over 170,000 people living with RAIRDs, and an estimated 3.5 million people living with rare diseases. Individually, the conditions are rare, but overall, rare disease affects a significant proportion of the population.
Why the Health and Social Care Committee should consider this issue as part of its Prevention inquiry:
As part of the prevention agenda, it is important to focus not only on preventing disease from occurring, but on reducing the impact of diseases when they do occur. RAIRDs are predominantly non-genetic diseases, so no specific action e.g. genetic testing can prevent initial onset, or give an early indication that the disease will occur. However, preventing RAIRDs and other non-genetic diseases from avoidably causing serious illness and even death should be made a priority, rather than ignored in favour of more common conditions.
Why the government needs to take action in this area:
NHS services remain too focused on common conditions, with an increasing focus on high volume, low complexity conditions, exacerbated by the backlog caused by the COVID-19 pandemic. This means the current system is preventing some people with rare disease from experiencing an achievable level of good health. The resulting morbidity and mortality is preventable, if health policy and services take a greater focus on preventing people’s conditions from worsening.
The following are examples of where improvements are needed:
- Diagnosis: RAIRDA’s 2018 survey showed nearly half of respondents waited over three years from symptom onset to receive a RAIRD diagnosis.
- Access to monitoring and tests: Recent reports from RAIRDA’s member charities suggest that some patients are being left months without drug monitoring or regular blood tests for disease activity.
- Improved access to vaccines and treatments: although people with RAIRDs are at more than twice the risk of COVID-19 related death compared to the general population, our March 2022 survey showed that after testing positive, 62% of respondents did not receive automatic contact from a Covid Medicines Delivery Unit to receive potentially life-saving treatment.
Why this area would benefit from scrutiny:
Rare diseases affect a significant proportion of the population but are often side-lined in health policy discussions in favour of more common conditions. Specifically, RAIRDs can be life threatening and significantly life-altering, yet prevention of these adverse outcomes through early diagnosis, priority access to preventative vaccinations and treatment, care coordination, access to specialist support and effective monitoring has not been given appropriate investment and attention. Scrutiny from the Committee would help highlight current inequalities in aspects relevant to prevention and encourage action to address them.
Why the Committee should look at this area now:
The UK Rare Diseases Framework (2021) has been a significant step towards improving care for rare diseases, but there are gaps in the framework which mean that people with RAIRDs are still at real risk of preventable adverse outcomes because of delays in diagnosis and issues with communication and access to treatments.
If the Committee were to include preventing avoidable disease progression and mortality for people with rare diseases on its agenda for the inquiry, it could encourage further policy development in this area. Further, RAIRDA is currently calling for the development of a NICE quality standard for rare disease and has had productive discussions with the Department of Health and Social Care. There is also the potential for research into innovative treatments to improve rare disease prognosis: for example, looking at alternatives to corticosteroid treatments, which are associated with significant long-term adverse events.
RAIRDA is grateful for the opportunity to feed into this important inquiry and hopes that prevention initiatives for rare disease will form part of the Committee’s agenda. RAIRDA is happy to provide any additional evidence required by the inquiry.