The Rare Autoimmune Rheumatic Diseases Alliance (RAIRDA) recently published a report highlighting the obstacles to diagnosis, treatment, and lifestyle experienced by people with rare autoimmune rheumatic diseases, like anti-neutrophil cytoplasmic autoantibody (ANCA) vasculitis, or AAV.
The report, titled “Reduce, Improve, Empower,” was published Feb. 28, 2018, to coincide with Rare Disease Day, and reflects the accounts of more than 2,000 people in the United Kingdom who live with some of these diseases.
The report was written with particular focus on three conditions: systemic lupus erythematosus (SLE), scleroderma, and vasculitis. But the results are likely to be applicable to other conditions where the body’s immune system becomes overactive.
Because about 1 in 17 people will be affected by a rare disease at some point in their life — in the U.K. this means about 3.5 million people — the National Health Service (NHS) published the UK Strategy for Rare Diseases in 2013.
The NHS’ goal was to provide direction for the healthcare needs of people living with rare diseases. The UK Strategy was well received and contains 51 distinct commitments designed to improve health and social care for rare diseases.
However, specialists are concerned that the focus of the strategy and implementation to date has focused mainly on rare genetic conditions, leaving out the nearly 700,000 people that currently live with non-genetic rare diseases.
To see whether there is a real risk that the needs of the people living with non-genetic rare diseases are being left behind, in 2017 RAIRDA conducted a survey of its patient members. The survey was designed to assess patients’ experiences with specific aspects of care highlighted by the 2013 Strategy for Rare Diseases.
The report highlights the main findings of the U.K. survey, which was distributed via social media, e-newsletters, and forums. It had 47 questions, and received more than 2,300 responses from England, Northern Ireland, Scotland and Wales.
Key findings from the survey include that:
- 44 percent of patients reported they waited more than three years from first symptom to receiving a correct diagnosis;
- 33 percent said they routinely visited two locations for their care, with another third visiting three or more sites;
- A whopping 93 percent of respondents said they saw clinicians from multiple medical specialties as part of their routine treatment, but only one in five can do so at a joint clinic;
- 61 percent were not confident that there was a coordinated plan in place for their care;
- Another 61 percent said they were struggling to cope with their condition;
- 44 percent felt their condition had a negative effect on their family;
- 45 percent reported that either they or their partners were forced to reduce their working hours, or give up work entirely, as a result of their condition;
- 40 percent said they didn’t feel like they have enough information and support from the hospital in living with their condition.
RAIRDA received a total of 2,389 survey responses, of which 288 were excluded because either the diagnosis was not stated or could not be classified into one of the three main conditions. After selection, 2,101 responses were analyzed, composed of 1,098 people with lupus, 527 with vasculitis, and 476 with scleroderma.
“This report demonstrates for the first time the similar needs and experiences of people living with rare autoimmune rheumatic diseases,” Peter Lanyon, chair of RAIRDA, said in a press release.
“These findings are a stark reminder of the challenges that people living with these conditions face, from getting a diagnosis, to accessing treatment and to coping with the impacts on home, work and family life,” he said. “So we have set out a series of potential solutions linked to three important aims — to reduce delays in diagnosis, to improve the coordination of care, and to empower people with greater knowledge.”