ME/CFS is finally proven to be a real illness

[R0ckandHardPlace]

Yesterday the findings of the biggest study to date of ME/CFS were published. The DNA of 15,500 ME/CFS sufferers was compared to over 250,000 controls. The researchers found 8 specific genetic differences between groups, which all backed up the symptoms reported by sufferers.

For years we have been told that it is all in our heads, that we can ‘exercise’ our way out of this awful disease; people (including some medical professionals) have disbelieved us and judged us as lazy hypochondriacs.

Today is a good day for the ME/CFS community. At last our voices have been heard, and hopefully this will pave the way to more research and better treatment.

https://www.theguardian.com/society/2025/aug/06/genes-me-chronic-fatigue-syndrome

So AIBU to offer a gilt-edged “F*ck you” to the doubters, including my own GP?

Yeah this isn't really that huge a deal by the looks, and I'm not being an arse I was actually diagnosed with this about 20 years ago. But I know when I was diagnosed it was literally a case of a gp telling me I had it when they'd run tests for other things and hadn't found anything. I have never really known if I do/did have it, or if it's something else

example - disease A

2000 people are analysed

250 have the genetic marker Q but are healthy
1250 people do not have genetic marker Q and are healthy
400 people do not have genetic marker Q and have disease A
100 people do have genetic marker Q and have disease A

therefore, people with genetic marker Q are more likely to have disease A. But the vast majority of people who have genetic marker Q do not have disease A. Therefore it can be interpreted that having this marker means you are not likely to have the disease.

That is with one marker, this study is using a combination of 8 markers, which takes it into the realm of the utterly and totally meaningless

There is not information in this article, and the study itself does not seem to be readily available, but there isn't any likelihood that this will be any more of use as a diagnostic tool than all the other "disease markers" that are regularly discussed and researched into various conditions with no physical signs.

I strongly recommend "Bad Science" by Ben Goldacre, if you are getting taken in by headlines like this. It will help explain to you how not to be.

This might be good news for people like myself who are repeatedly diagnosed with CFS/ME by doctors too lazy to do the necessary investigations to diagnose and treat what they actually have!

But the results don't show a physical cause, it just shows that some sufferers have certain genetic markers, not that everyone with those markers will have it.

Painkillers is another matter but long term use of painkillers just leads to higher and higher doses. I don't what the answer is but I don't think painkillers are helpful.

My DB is a neuroscientific researcher and he was very excited by the news. I think he has a good understanding of science, given his doctorate etc.

Maybe he knows something beyond what has been published, there is nothing to see here, nothing at all. I couldn't find the actual study itself, but in the report, there is nothing.

has he got excited over similar reports in the past that have all come to nothing? There was a "genetic markers for ADHD" one a few years ago, now used in universities as a teaching example of how NOT to interpret results!

I think it is likely to be a study that contributes something overall to our knowledge of rate of occurrence of various alleles, which can only be good, but the report is not demonstrating what the report itself says it is demonstrating.

It'll take a long time for change - if its ever going to happen. I’ve got MS and can prove it with >10 years of clinical neurology consultant specialist records, MRI scans showing brain damage worsening and radical chemotherapy-style treatment, but still, even now, people think I'm just making it all up in my head and should just get on with it like everyone else or I'm a malingering, lazy, weakling.

All information adds to the picture. It may suggest where to look next- neurology or immune system, for example.

This is not the breakthrough you think, because plenty of 'mental illnesses' have genetic markers that predispose people to developing them.

OP, I am totally against the man-made separation of things into 'mental illness' and 'physical illness', since any disease you care to mention has aspects of both - even infectious diseases. No-one would split disease into 'physical illness' and 'liver illness', but when it comes to the huge secretory organ that is the brain, that's what is done.

Lots of people with post-viral and other syndromes are desperate to prove they have a 'physical' illness, because they see anything less than 'pure' physical illness as being health professionals saying they are faking or that what they are experiencing is not real. That's not the case, except in individual ill-informed healthcare professionals. On a very basic level, we only experience pain because we have a brain, for example. Without a brain there's nothing to transform those nerve impulses into an experience that hurts. As animals with a highly developed brain, there is much we can do to modulate that experience by using our minds, and by denying that our minds have any involvement, we deny ourselves those techniques.

Much of the best treatment for ME/CFS lies in mental health services, because they are more holistic. but your GP sounds very much as though you need a new one who understands CFS better.

It would be so good to find the underlying issues and be able to address them.

However, treatment may well end up being the same- Pacing. Basically.

exactly, the study might contain valid information, just not the information that this newspaper headline is screaming about - it could be a brilliant genetic study, but this newspaper report is full of nothingness

Exactly this!

I had ME/CFS for three years after a viral infection and was treated so awfully by doctors and people around me that it has given me lasting medical trauma. I was severely debilitated but called depressed, told I had had a 'nervous breakdown,' referred for physical therapy that was KNOWN to be detrimental.

Not being believed was almost as bad as being in constant pain, unable to eat or tolerate light and mostly bedbound. Because you get no understanding, the constant tensing up/annoyance when you make any reference to your illness, the doubt from others, the assumption that you are depressed or could get better if you tried or 'wanted to.' The ignorance, the 'just come out and you can sit in the car,' when this would cause you extreme pain for the following few days. The doctors saying 'I'm not going to sign you off work,' 'what you need is a therapist,' 'you're tired because you're lying in bed all day,' 'people like you end up on disability benefits and lead very limited lives.' The casual jokes and eye rolls whenever someone mentions 'chronic fatigue.'

It's shit and unacceptable. I'm glad something has finally been found. I had a feeling more research would go toward ME when Long Covid surfaced. When I was sick, it got less annual funding than hayfever.

The thing is, its not so much that chronic fatigue isn't a real phenomena, more that there is largely a "type" of person that doesn't actively work to recovery. It seems to go hand in hand with the people that play into the sick role & who always have mental health difficulties and low resilience.

Of course people experience chronic fatigue after serious illness or at times of high stress. A lot of people work through it but there are also those where they start referring to themselves as "disabled"

????? It’s never not been a ‘real’ illness. The issue is, that it’s a diagnosis that must occur by exclusion, not a diagnosis in its own right per se. That’s what the issue is. From the study linked, I can’t see this has changed in that while genetic similarities have been identified, there doesn’t appear (as yet) to be a definitive test with a positive. Maybe that will come, maybe it won’t, I have no idea at this point.

The problem when looking at such a diagnosis, is that basically you still have no idea what is wrong with someone, just what is not wrong. Could it then be something that we are calling CFS, or could it be something entirely different that we just have not been able to identify as yet, and thus optimally treat (if/as possible) as yet. That’s the problem clinicians have with this at the current point, and again, not sure how this study changes things in the near term? That’s different to saying something’s not real, just don’t know what it actually is and whether CFS is the most valid banner. That’s not really something to get frothy and offended about but I’ve long learnt many patients seem to make it their life’s mission to be offended for some weird reason.

These results proves nothing at all. * different genetic markers found in a sample of 15 000 self referred individuals recruited mainly online - What percentage of these people have any condition at all, do you think? And what percentage of these people have the same condition? There will be malingerers here, and people deliberately sabotaging because they have nothing better to do - a significant number with have mental health problems, rather than a physical illness. take all that away (o sorry, you can't because you don't know which subjects fall into this category) and you are still likely to have a sample with over 100 separate distinct conditions, some misdiagnosed, and some just called "CFS" because not enough is known to separate them out.

I am sorry you are ill, but this article doesn't mean anything, so please stop spreading misinformation and false dawns around.

Means very little until it's peer reviewed. Always get someone to check you working. Another who looks forward to the full paper.

I did enjoy reading how hard the guardian journo worked to produce a synonym for 'mitichondria is the power house of the cell' though.

I don't disbelieve ME/CFS btw. I just think it's a bit cart before the horse on releasing the data. Because as can be seen by some of these comments, it's giving false representation, some thinking it is a genetic test etc.

O well, if it hasn't even been peer reviewed, that would explain why I cant find the published study.

How to turn a total non event into a newspaper article.....

I don’t think anyone doubts the debilitating symptoms, it’s the cause/trigger and the treatment/rehabilitation that has more controversy. I have a childhood friend who had me in the early 90’s so before the internet etc so information was scarce, took her 10 years to recover from bedridden but in her 50’s she’s ok - she was over a year barely able to get downstairs but she gradually did build up strength by doing more, incredibly incrementally - not a structured graduated exercise programme more just pushing herself to just spend 5 more minutes outside if the house!

but like so many conditions, i strongly suspect there’s multiple causes meaning there’s no one size fits all solution, CFS is a symptom caused by many things.

I think the article is quite exciting. But it doesnt 'prove' anything.

I’m no expert but I also think along these lines. I think part of it is the way mental illness is generally seen as somehow more a patients ‘fault’ than physical illness, nobody wants to think their own brain is doing something to them completely uncontrolled, but sadly that’s what brains sometimes do!

It may be that there is a ‘physical’ (though brains are of course also physical) cause, but I don’t view it as needing to find one to prove it’s ‘real’.There is clearly SOMETHING that exists and people suffer from it.

I guess we’ll get the answers when the study is eventually published (the limited information that we know is only from the initial findings).

I participated in the study. We didn’t just provide DNA (saliva) but also had to complete a hefty questionnaire which iirc included our NHS number and medical information, so I’m sure they’d have checked the diagnosis.

Interestingly, a large number of Long Covid sufferers were also included in the study, and these were found NOT to have the same gene markers as ME/CFS sufferers which very much surprised me.

sorry, but long questionnaire and access to medical records doesn't change anything that I said

Exactly. It's a step on the way - but as usual, wildly inaccurate reporting in the newspapers who never link to the actual papers. Actual paper is freely available to read and linked to up-thread