Suffolk woman hails new ME blood test that could speed up diagnosis
Ellie Mullis took part in the study, hoping others wouldn't have to wait four years for a diagnosis like she did.
A Suffolk woman who has lived with myalgic encephalomyelitis (ME) for more than a decade has spoken of the relief of seeing science “finally catch up” with her experience.
Researchers at the University of East Anglia say they’ve developed the first-ever blood test for ME, also known as chronic fatigue syndrome (ME/CFS), offering new hope for patients who have long struggled to be believed.
What is ME?
Experts say ME/CFS is a serious and often disabling illness characterised by extreme fatigue that is not relieved by rest, with symptoms affecting multiple body systems. Estimates suggest hundreds of thousands of people in the UK live with the condition, often without a clear diagnosis.
The research
The test, developed in partnership with Oxford Biodynamics, examines how DNA folds in the blood to spot a unique pattern found only in people with ME/CFS. In trials involving 47 patients and 61 healthy adults, scientists reported that the test correctly identified the condition in 92% of cases and ruled it out in 98%.
Until now, there has been no definitive diagnostic test for ME/CFS, with patients often waiting years for a diagnosis.
Lead researcher Professor Dmitry Pshezhetskiy, from UEA’s Norwich Medical School, said:
“We know that some patients report being ignored or even told that their illness is ‘all in their head’. With no definitive tests, many have gone undiagnosed or misdiagnosed for years. Our discovery offers the potential for a simple, accurate blood test to help confirm a diagnosis, which could lead to earlier support and more effective management.”
“This is a significant step forward, for the first time, we have a simple blood test that can reliably identify ME/CFS. Understanding the biological pathways involved in ME/CFS opens the door to developing targeted treatments and more personalised care.”
The findings
Researchers used OBD’s EpiSwitch 3D Genomics technology to examine how DNA is folded in the blood of 47 people with severe ME/CFS and 61 healthy adults. They found a unique pattern present only in those with the condition, and say their test has a sensitivity of 92% and a specificity of 98%.
However, experts, including Dr Charles Shepherd from the ME Association and Professor Chris Ponting from the University of Edinburgh, have urged caution, calling for the test to be validated in larger and more diverse groups before it can be used in clinics.
Ellie's story- “It started with something as small as tonsillitis”
For Ellie Mullis, 26, from Suffolk, the news feels deeply personal.
She has lived with ME for more than ten years, after first falling ill as a teenager back in 2014.
“It started with tonsillitis, just something small,” she said. “But I never really bounced back. I was so tired all the time. Unless you’ve experienced fatigue on a cellular level, there’s no way to explain it.”
At the time, Ellie was performing regularly and studying for her GCSEs.
“When you’re a performer, it’s drilled into you that the show must go on. It didn’t occur to me that something was as wrong as it was.”
“I had faith in doctors, even when what they said didn’t feel right”
Over the next few years, Ellie saw numerous doctors and specialists.
“I had absolute faith in the NHS,” she said. “If a doctor told me something, I assumed it was true, even if it went against how I was feeling. They said it might be puberty... I had other things (going on) like an eating disorder. So I didn't know how much that played into it, that.
"I didn't want to sit there and think,oh there's something wrong. So if a doctor was giving me an out. I was very happy to take that. I was very happy to be like, 'OK, so if I go on this pill, it'll fix it..'”
Her health worsened throughout university, and she eventually needed surgery after repeated infections.
“You can’t run from it forever,” she said. “If you don’t make time to look after your body, your body will make the time for you.”
It took four years before she was officially diagnosed with ME.
“There’s relief when you finally have a name for it, but also grief,” she said. “If somebody had just said, ‘You’re ill, stop and rest,’ my life could have been very, very different.”
“People think you’re lazy; they don’t see what it costs”
Even after diagnosis, the stigma surrounding ME remains, Ellie says.
“People have told me maybe my body was being overdramatic. But actually, my body just responds dramatically,” she said. “This is fatigue down to the fact that there are people with severe ME whose digestive system is fatigued, they cannot process food because their system starts shutting down.”
She told us she's often worried about her illness being dismissed.
“It’s invisible, so people think you’re lazy. But most people with ME were very, very active before they got ill. People like to think it wouldn’t happen to them, but it can.”
“I wanted to help find answers"
Earlier this year, Ellie took part in the study mentioned above, and now that the findings have been revealed, she's hopeful about the future. "It might sound really sad to be excited about something like that. But my goodness, if there had been a blood test that could prove that to me for the 10 plus years I've had this condition, something so simple like that seemed unfathomable."
"There is something incredibly comforting in the knowledge that they're posting these findings that are showing your literal DNA, this is what a healthy person's DNA looks like. This is what somebody with ME looks like, and it's not the same.
"It makes me want to go back to those doctors who said, 'well, are you sleeping enough at night? How active are you?' And all of that that tries to inflict self-blame and just hold that piece of paper up and be like 'this wasn't my fault. This is something that I was quite literally born with or without, that is proof'."
A positive step, a hopeful future
For Ellie, this blood test has given her hope there could be other medical advancements.
"If there's a blood test to show what you do or don't have, does that eventually mean maybe in the years to come, you know, probably the next generation now, could there even be something like a medication that is mind blowing and that's it's so, so exciting and it makes me so grateful for the people, especially at Decode Me, who are doing this sort of work."