New report highlights neglect of people with life-threatening autoimmune diseases

The Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) has released a report highlighting ‘alarming disparities in the quality of care and treatment’ received by people living with rare autoimmune rheumatic diseases (RAIRDs).

The Resetting the Balance report provides compelling evidence that late diagnosis and inadequate care of these diseases can significantly reduce a person’s life expectancy and have a major impact on their quality of life.

RAIRDs are a range of serious conditions in which the body’s immune system attacks its own healthy tissues, often in multiple organs throughout the body simultaneously. These diseases can be life-threatening and are significantly life-altering for many people living with them. Diseases within this category include vasculitis (an inflammation of the blood vessels), lupus (a long-term condition that causes joint pain, skin rashes, extreme tiredness and inflammation which may affect the skin, kidneys, blood cells, brain, heart and lungs), scleroderma (a condition caused by the immune system attacking the connective tissue under the skin and around internal organs and blood vessels), and Sjögren’s syndrome (an autoimmune disorder which affects parts of the body that produce fluids).

There are over 170,000 people living with RAIRDs in the UK. They can be hard to diagnose and, due to their complex and rare nature, many patients will need specialist care. 

The report raised serious concerns about slow diagnosis of RAIRDs compared to other conditions. Early diagnosis can help patients avoid serious complications and, in some cases, premature death. Despite this, 44% of RAIRD patients reported that they waited more than three years from the first symptoms to receiving their correct diagnosis. The report authors also note that people living with these conditions face further challenges in that they have limited treatment options, and often experience fragmented and variable care depending on where they live in the UK.

The quality of life for people living with RAIRDs can be severely impaired. In lupus, for example, antibodies attack the body’s own tissues causing extreme fatigue and joint and muscle pain. The disease carries an increased risk of premature death, mostly due to infection or cardiovascular disease. Lupus is currently incurable and treatment of symptoms (which aim to suppress the immune system to mitigate the damage of the disease) are limited. Over 90% of people living with lupus are women, and the condition is more common amongst people of Black African, Caribbean, and Asian ethnicity.

In 2018 RAIRDA commissioned a survey of people living with RAIRDs which found that 61% of respondents were struggling to cope with their condition. More than half (52%) said they felt isolated or lonely at least once a week as a result of their symptoms, with one in five (21%) feeling that way every day. 44% felt that their condition has had a negative effect on their family. The unemployment rate (13%) among respondents was also three times higher than among the UK population as a whole and, among those who were still in work, one in ten reported having missed more than three months of work in the past year because of their condition.

Avtar Gill, 48 and from Birmingham, was employed as a windscreen fitter when he was diagnosed with scleroderma in 2016. Due to his illness has had to quit the job and career that he loved:

“Before I turned 40, I was one of those people who never saw the doctor and was not on any medication. Today, things look very different. After being diagnosed I had to take redundancy, which effectively ended my career” he said. 

Kim Sharrier, 34 from London, has lupus and also is the mother of a daughter living with lupus:

“At the age of 15 I became extremely unwell and was diagnosed with Lupus. I had never heard of the illness before and remember the moment I was told and how incredibly numb and confused I felt. It has affected my hair, my skin, my lungs, my kidneys and my brain which contributed to a stroke, nerve damage and later a diagnosis of lupus-induced chorea which is a neurological disorder. Each day with lupus is unknown.”

Sue Farrington, Co-Chair of RAIRDA, said:

“People living with rare conditions have too often been forgotten when it comes to policy or investment in health services. The Resetting the Balance report presents evidence and clear recommendations for how to improve care and services for people living with RAIRDs across the UK.

“We hope that the next few years will see policy developments that reflect the needs of people living with these serious illnesses, and real breakthroughs in important areas such as improving diagnosis and creating and accessing new treatments. We also hope that the experience of living with a RAIRD is dramatically improved as care and treatment reaches parity with other more common conditions. 

“Finally, we hope this progress happens across the UK, with the treatment a person gets no longer being determined by which nation or region they live in.”

In order to urgently address the care and treatment of people living with these rare conditions. RAIRDA is calling for quicker and more effective processes for diagnosis for people with RAIRDs, better access to treatments – including new and innovative drugs, an elimination in care and treatment inequalities and, due to the vulnerability of RAIRD patients, priority access to vaccines and treatments for Covid-19 and other viruses.