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Real Voices: Campaigning for improved care for people with autoimmune rheumatic diseases

Sue Farrington is the Chief Executive of the Rare Autoimmune Rheumatic Diseases Alliance (RAIRDA). In this Real Voices feature, Sue describes the effect that these diseases have on the lives of those diagnosed, and the ways in which RAIRDA is trying to improve treatment and care for them.

My professional background is in marketing and communications, and I worked mainly in the non-profit sector. I was working for the MS Society, and saw the role of Chief Executive of RAIRDA advertised. They were looking for someone to lead the merger of two organisations. What attracted me to the role was of course the opportunity to create a new organisation, but what was really the driver was the cause itself. My sister, who died earlier this year, had scleroderma which is a rare autoimmune disease. So when I saw that role advertised, I knew it had my name on it. I did consult my sister first for her blessing, which she gave. I think she was hoping that she would find out first if there were developments in the world of scleroderma research.

Little awareness of autoimmune rheumatic diseases

I had a head start when I joined RAIRDA, as I knew a lot about scleroderma because of my sister. What I didn’t appreciate is how many rare autoimmune diseases there are out there. In our community, people suffer from scleroderma, lupus, vasculitis and primary Sjögren’s syndrome, among others.

There are very low levels of awareness surrounding all of these diseases, both amongst the public and amongst healthcare professionals. This is very worrying. It’s that lack of understanding that leads to serious issues, such as delays in diagnosis. It can take up to five years from experiencing symptoms to receiving a diagnosis, due to this lack of awareness.

Early detection and diagnosis is vital

Fast diagnosis is vital when you have a degenerative condition. If the patient goes a long time undiagnosed then they aren’t receiving the proper treatments for their condition, so they get irreversibly worse and worse. We decided to set up RAIRDA to address these specific challenges together.

We properly established the alliance in 2017, and we recognised that all of these rare conditions are overlooked and underfunded. We saw that trying to lobby on behalf of individual conditions wouldn’t be as effective, and that coming together and campaigning for recognition for a number of conditions collectively would help amplify our voices.

Scleroderma affects 19,000 people in the UK, so if we were to try and have conversations with the NHS or the Department of Health purely about that one condition, they probably wouldn’t be interested. People have been more willing to have conversations with us, because we’re a larger group representing multiple diseases. We want to better understand the challenges, and collectively identify solutions, and then lobby for effective change. As an alliance, we don’t just bring together patient organisations, we also have clinicians who are particularly knowledgeable about rheumatic disease.

One patient said it felt like their body was slowly turning to stone

One of the things that our new report sets out is what those commonalities between these diseases are, but I will explain a little about scleroderma as an example. How it affects a patient is that the body overproduces collagen, which leads to a tightening of the skin, including the skin around your internal organs. One of the most stark comments I heard from a scleroderma patient was that it was like their body was slowly turning to stone.

Once the damage is done, and the disease has a hold, it is irreversible. This is why early detection is so important. For some it can be life-threatening, but for all patients it seriously affects their quality of life. Mobility becomes an issue, and simple everyday tasks are rendered exhausting and sometimes impossible. Fatigue and pain are constant (which is very common across all the conditions RAIRDA represents). For scleroderma, 50% of those diagnosed have either had to retire or significantly reduce their working hours within five years of diagnosis. This greatly affects not just their financial wellbeing, but also their emotional and mental health.

Why we must ensure GPs have the correct tools to detect symptoms

There are a number of reasons why these diseases are underfunded. Of course, one is that they are rare. Also, many of the initial signs and symptoms of these rare diseases are confused with common complaints, such as acid reflux or breathing problems. As a result, people are initially referred to the wrong specialists. Furthermore, because they are rare, even specialists like pulmonologists or respiratory physicians don’t recognise these diseases when they see the signs. What we as an alliance understand is that if you’re a GP, you may only come across diseases like this a couple of times in your career. It’s important that we work together with healthcare professionals to ensure that they have the correct tools to ensure earlier diagnosis. This is one of our most vital aims.

We also want to ensure that after diagnosis, people receive better coordination of care. One of the commonalities across all of these conditions is that they affect multiple organs. Patients therefore need to see multiple specialists, so we want to ensure that there is communication and coordination between their doctors. We also want to increase research into these diseases, with a view to developing targeted therapies. We’re hoping that the Rare Diseases Framework, which was published at the beginning of 2021, will give an increased focus to rare diseases across the board, but specifically to auto-immune rheumatic conditions.

One of the challenges that we come across as an alliance is the lack of quality data. This often presents difficulties in being able to give evidence when arguing that things need to change. We’ve conducted a patient survey with support from The University of Nottingham to ensure that the data we gather is analysed properly. We were able to use this data to inform our report, ‘Resetting the Balance’. This clearly shows that there is an urgent need to improve care for people with these conditions.

Furthermore, we’ve become sharply aware of the vulnerability of our community, which was especially apparent during Covid. We did some further research with Dr Megan Rutter which showed that people with rare autoimmune rheumatic conditions are 54% more likely to get infected with the virus, and had more than twice the risk of death from Covid than the general population. What was also worrying to us is that people being on immunosuppressants meant that they could not mount the same response to the vaccines, so they were not being afforded the same level of protection as others. Covid exacerbated the situation generally, and decreased access to treatment, but it also highlighted this other fact that our community is more vulnerable to viruses. Part of our report’s recommendations are to do with situations such as Covid which might occur in future, and how to safeguard our community in the face of the threat.

Patient-centred care and support is needed

In our report we also look at care and support and how this can be improved. One of the things that we’re calling for is that patients only go for one healthcare visit where they are able to see all their specialists at once. For that to work, we recommend that there is a named person responsible for coordinating their care. Otherwise, the burden is put onto patients who have to organise their many appointments and make multiple trips whilst they are suffering from pain and fatigue. Basically we want the system to put the patient at the centre. Patient-centred care is often talked about, but we need to see it put into practice.

Another point is that patients don’t always live near specialist centres, so struggle to access the proper care and treatment. There are potential ways around this. One of the things that we would like to see is the expansion of a Hub and Spoke model, which has been piloted and continues to work in the east of England. It is a great example of how a specialist centre can support other hospitals by becoming a hub, where healthcare professionals can access the right specialist advice. It increases knowledge sharing and ensures that even if a patient lives in the Outer Hebrides, they are accessing the same quality of specialist treatment as people who live in Central London.

More targeted treatments are needed

Similarly, there is a lack of targeted treatments for these rare diseases. Many of the treatments given to patients in our community are cancer treatments, and it’s obviously great that they are available because they can manage symptoms. However, they don’t cure patients and they are quite toxic, with unpleasant side effects. We know that there are exciting potential new treatments in development currently, but there are often challenges in showing the efficacy of these as there are so few patients involved in clinical trials because these diseases are so rare.

When new treatments are appraised, it’s unclear what impact and value the contribution will be alongside other evidence. We would like to see greater transparency around that process of developing and trialling new treatments. We are also calling for the development of a Quality Standard for rare diseases to improve equity of care across the four nations. This is supported by a wider group of rare disease patient organisations and clinicians.

In summary, we argue that it is no longer acceptable that the prevalence of a condition should determine an individual’s health outcomes. The rarity of these diseases shouldn’t mean that people diagnosed with them should struggle to get the right treatments. We want equality of care and treatment for people with rare autoimmune rheumatic conditions.

For more information about the work of the Rare Autoimmune Rheumatic Diseases Alliance (RAIRDA), visit: rairda.org.