Helping doctors diagnose an invisible illness

Protest for ME/CFS health equality featuring a man, woman and child holding up sign with: I am one of the #MillionsMissing due to ME/CFS.

Melbourne Millions Missing event for ME/CFS health equality. Image by Kerrie McCure.

Researchers hope that a new biobank will help them develop a blood test for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.

To understand why a diagnostic test is so important, you first need to put yourself in the shoes of someone with an invisible illness.

Imagine, you’re suddenly very unwell and haven’t been able to go to work all week.

You manage to make it to the doctor. You say, you’ve never felt this bad before.

Your doctor notes your high temperature, but thinks it’s just a virus. She recommends taking time off work and runs some blood tests just to be safe. “We’ll give you a call if anything shows up,” she says.

Months pass. You never get that call, but you never get better either.

Every day you are physically deflated by bone crushing fatigue. Not tiredness. Medical fatigue. They are two completely different things, but no one understands this.

“You look so good,” you hear your friends say. Or even worse, “Oh, I completely understand what you mean. With the kids, and work and everything, I get tired too.”  

When you go back to the doctor. You list off a range of symptoms, but in the context of a 15 minute medical consultation it is hard to get everything out. She listens and then says the test results look great. “You’re fine,” she says. “You should get some more exercise and eat better.”

But you’re not fine.

If your illness was an iceberg, fatigue would just be the bit that points out above the water.

You might not know it yet, but you are dealing with a severe, complex illness, with symptoms so extreme that they impact almost every system in your body, from the way your brain functions to your gut, and your immune, endocrine and cardiac systems.

You are living with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), as described by thousands of patient advocates across the world.  

And without a diagnostic test it can almost be impossible for people to get the help they need.

Dr Brett Lidbury and Dr Alice Richardson from the Research School of Population Health at The Australian National University want to change this. 

“Unfortunately, people with ME/CFS have not only suffered a lack of care from the medical profession, but humiliation as well,” says Dr Lidbury.

He says, it’s not unusual for people to spend years, even decades, looking for an answer to their debilitating symptoms.  

Sometimes people can’t even make it to a doctor to get help, because their illness is so severe.

Person in bed with bedspread that reads: 25% of people with ME are housebound or bedbound

“Around 25 per cent of people with ME/CFS are effectively housebound,” he says.

Dr Lidbury explains that the main distinguishing features of ME/CFS, is that there is an unexplained fatigue for six months or more in adults, or three months or more in children.

“There is also something we call payback,” he says, as he points to the kitchen at the end of the corridor.

“Most people wouldn’t think that walking to the kitchen, and getting a drink of water, is a difficult task,” he says. “But for someone with ME/CFS, they may need 20 minutes or more to sit down and recover.”

He says that illnesses resembling ME/CFS have been recorded since the 1920s. Experts estimate that 15 to 30 million people around the world are currently suffering, including 250,000 people in Australia.

“But arriving at a diagnosis can be difficult.”

Currently, for doctors to make a diagnosis, they first need to rule out other conditions, and then ask their patient a broad range of questions that takes up to three hours.

“Your regular GP is only working to 15 minute appointments.”

And despite the evidence showing that ME/CFS is a serious, complex and debilitating condition, patients often don’t have access to the best advice.

“Currently the advice is for doctors to prescribe cognitive behaviour therapy, reinforcing that the issue is all in your head.”

He says that under the current clinical guidelines some patients are also wrongly encouraged to gradually increase the amount of exercise they do.

“For many people, this actually sends them backwards. For others, it does nothing.”

Image of running shoes with note attached that reads: "I hate the stigma. That people think I'm lazy or 'living the good life' when it is the exact opposite. I would give anything to go for a run or a bike ride like I used to." Paul, 34

Image by Kerrie McCure.

Dr Alice Richardson wants to help doctors give the best advice, by helping them determine the severity of their patients’ ME/CFS symptoms.

“I've been looking at patterns and profiles of combinations of symptoms,” she says. “Combining these results with a test where people stand up for a set amount of time and rate the difficulty of this task, allows us to categorise symptom severity into mild, moderate and severe.”

Using powerful statistical methods, the team at ANU has also looked at the results from routine pathology tests. They did find potential biological markers for ME/CFS, and interestingly these are hiding within the ‘normal’ ranges of these tests.

Although these results are promising, Dr Lidbury heeds that because the sample size was so small – 100 people from the same geographical location – more work is required before they can develop diagnostic guidelines for doctors.

“As scientists, we need to look at the broader picture by repeating our observations at a much larger scale,” says Dr Lidbury. “This is where the biobank comes in.”

The new biobank will provide researchers with access to blood samples and DNA from people with ME/CFS.

As a biostatistician, having access to more data makes Dr Richardson very happy.

“At the original funding announcement, there were people writing in, saying ‘please take my data’, ‘collect my data’, which is fantastic,” she says.

“By increasing the sample size, we can get much more powerful results.”

Funded by The Mason Foundation, and recently announced by project leaders at La Trobe University, this new $1 million research partnership, will also support collaborators in Australia, the UK and North America and Emerge Australia.

“There's a need to start pulling in data from other areas,” says Dr Richardson. “That's why this team includes people looking at everything from the whole person, right down to gene sequences and the individual parts of cells.”

Dr Lidbury is grateful for the ME/CFS advocates and patients who have campaigned for more research funding in Australia, and hopes that a new diagnostic test will help address some of the discrimination people are facing.

“I think the answer is already in the room. It just needs to be validated,” he says.  

“With validated results, we can start educating GPs about new ways to make a diagnosis.”

As GPs are already under so much pressure, Dr Lidbury says that having the tools for them to refer their patient to someone who knows more about the condition, is an important step in the right direction.  

“At least it’s a lot better than effectively saying, ‘It’s all in your head’.”

If you would like to get involved in the patient registry and biobank, either as someone with ME/CFS or as a healthy control, please visit the Emerge Australia website.

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