Surrey woman given 6-moths to live after misdiagnosis
A new report has found 30% of people with rare diseases are waiting half a decade for a diagnosis
The health service in the UK is "not working" for people with rare diseases and they are being left to "fall through the cracks", according to a new report.
Almost three in 10 (30%) people with certain uncommon conditions say they waited for five years after their symptoms started before they were diagnosed with their condition.
Even after diagnosis, many patients are left facing "poor care co-ordination" and face difficulties accessing information and support, the Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) said.
And people with rare diseases see drastic changes in the way they are cared for based on where they live, according to a new report from the Alliance.
The report claims that the UK health system has had an "increasing focus" on major and common conditions, but people with these rare conditions are being left to "fall through the cracks".
Rare autoimmune rheumatic diseases are a group of conditions, including: lupus, Sjogren's, vasculitis, scleroderma and Raynaud's, where the immune system becomes overactive and attacks the body's healthy tissues.
As part of the report, Ipsos surveyed 1,300 people with these rare conditions in the UK and found:
- On average, patients waited for 31 months from symptoms to diagnosis, but this varied considerably between conditions. Many people said that they were initially misdiagnosed with other conditions before they received their diagnosis.
- Almost one in 10 (9%) said that after diagnosis, they waited for a year before seeing a specialist. The average wait to see a specialist was five months. The Alliance said treatment needs to "begin rapidly to prevent unnecessary disease progression".
- After diagnosis, 5% of people said they were responsible for co-ordinating their care, while 9% said they did not know who was in charge.
- Only a quarter (26%) said they felt their GP understood their condition.
Hollie Owen, from Surrey, was dismissed by her GP when she went to investigate joint pain and cold hands at only 13 years-old. It took her 4 years to be diagnosed with scleroderma.
Scleroderma is an umbrella term for a group of autoimmune diseases that cause the skin and connective tissues to harden and thicken.
Only 2 years after her diagnosis, Hollie's disease had attacked her heart and lungs in a way that lead to extreme scaring. So much so, she was diagnosed with heart failure and given 6 months to live.
Luckily a transplant saved her life but she maintains that it could have been avoided.
Hollie said: "Thankfully, with the medication that I've been able to go on, it kept my lung scarring at bay. So it was just the heart transplant I needed, not lungs as well, which, I'm very thankful for.
"If I didn't go back to the GP after they said, put gloves on, it's just growing pains. Well, really, if if a blood test had been done, then this process could have been sped up with the diagnosis."
"It is so important to have that early diagnosis.
"If I'd have been on medication sooner and diagnosed earlier, who knows whether or not I would have got to the point where my body was attacking itself so much that it caused heart failure."
RAIRDA said that the Government's upcoming 10-year plan for health represents a "genuine opportunity" to make improvements in care to make sure that people living with rare diseases are not left feeling "totally alone with their disease".
The report makes a series of recommendations, including: the expansion of specialised networks; the reduction in waiting times for diagnosis; giving greater access to support; and improving people's experiences of how they are cared for.