When should I stop searching for an objective alternative diagnosis to ME/CFS?

I'm not sure if I should continue to try and find some other disease that could explain my symptoms. If I have ME/CFS then it doesn't make much sense but I can't be certain that I have ME/CFS because there's no reliable diagnostic test. I've also started to doubt that PEM is a reliable indicator of having ME/CFS.

While I've had a lot of investigations, very few of them were ordered by doctors who truly understood what illness I actually had, and the medical care I've received has been extremely fragmented which works especially poorly in a situation where there isn't a clear diagnosis or well defined problem.

Cetain rare diseases respond very well to treatment so there's still the possibility of turning my life around if I was found to have such a disease.

I can't live with the illness and need some treatment that works and also proof of being ill because I expect to become increasingly dependent on others for my survival and well being and not having proof of illness is a risk factor for being mistreated in this situation.

 

I gave up once cardiologists, a neurologist and a rheumatologist had all done all the tests that occurred to them, to no avail. This all happened reasonably quickly, because I had private health insurance to chuck at it. Probably would have been a decade on the NHS.

Giving up entails a complete loss of expectation that medicine has anything to offer. Personally, I think that’s better than being vulnerable to supplement pushers and nutritionists and even worse quacks, but it does rather urgently mandate convincing oneself that a rather crap life is still worth living. I’m quite impressed by the way that people here manage that.

 

Why I've started to doubt PEM is only found in ME/CFS: I've now heard of several cases where a person with mitochondrial or metabolic disease had been diagnosed with ME/CFS. In at least 2 of these cases the person seemed to have PEM. In two other cases I'm not sure but misdiagnosis due to lack of understanding of ME/CFS does not seem very likely. So at least some metabolic diseases seem to cause PEM.

I've also asked a person from a patient organization for people with mitochondrial disease whether they thought "exceeding a certain activity level aggravated the illness for several days" occurred in mitochondrial disease and they said it's typical.

 

Do the mitochondrial or metabolic diagnoses come with any more hope or prospect of a cure?

 

I've read that some metabolic disorders respond well to treatment if you can find out what the exact problem is.

For example, I carry a mutation that can cause phytanic acid storage disease in people who have such mutations in both copies of the gene. It can respond well to a simple diet change by eliminating meat from ruminants and dairy products and avoiding fasting.

 

The thing that strikes me about the ME patient community is the extraordinary similarity of the experiences we have: there’s a shared struggle to define and articulate the sensations of illness, but that’s more a language problem than a sign of symptomatic diversity.

It just feels unlikely that by the time one has accepted a diagnosis of ME, given that it’s exclusionary and almost entirely unhelpful, that something which fits better is going to come along. And searching for it would be quite a big commitment in scarce energy.

 

Its such a hard question @strategist for us all. I totally empathise with the dilemma.

I gave up a long time ago but it was more because the NHS has me so utterly entrenched in a somatisation/functional pigeonhole that its pointless trying to pursue it. But i still quite often fantasise that something else treatable would be found by chance.

 

Please don't take my comment as judgement on your experience and choices, its not. What is overwhelmingly reported in research and anecdotally in the Spondyloarthritis groups that I participate is a delay to diagnosis of years, sometimes decades, and usually in that time 3-4 or more different Rheumy referrals alone before finding help. Not just because things get missed, but because the disease can take a long time to ramp up.

My own SpA diagnosis only came about 10+ years after the onset of symptoms more specific to SpA, which itself was 10+ years after onset & diagnosis of CFS/ME. It doesn't seem uncommon to hear of this sort of thing, e.g. Sjogren's seems to be another that can lurk causing less specific symptoms for many years before sometimes finally becoming more severe, obvious & diagnosable. There's not many textbook cases reported by these patients, its usually a very lengthy battle to diagnosis with a lot of discharges/unhelpful labels along the way. When the organic disease gets finally diagnosed, the other issues get forgotten/explained away, because of course the patient will be fatigued & generally unwell with said disease.

Not suggesting that's a common outcome for ME/CFS patients, and even if it is perhaps we're acquiring separate/secondary diseases over time in the same way people with autoimmunity seem to stack diagnoses up. But I do think its a good reason to A) continually be very aware of new/changing symptoms and not assign everything to the ME/CFS dustbin, and B) consider if any of your symptoms are slightly unusual/significant and actively look at other explanations outside of ME/CFS.

@strategist, if excluding Mitochondrial disease is important to you, it is possible to get the basics like blood lactate and a muscle biopsy done on the NHS. You'll need to seek out a myopathy clinic and consultant with specific interest, then present to them with the subset of your symptoms that indicate the tests, not overloading them with all the other CFS baggage that'll switch them off to the possibility. I'm sure some might argue this is a counterproductive, perhaps even misleading approach. Its certainly a shot in the dark, just one of hundreds of conditions with overlapping symptoms that you could pursue like this. Obviously its not how medicine works effectively, but if you've been otherwise abandoned and it helps your mental health (+ there's no significant risk)...

 

Agree with all you've said and often think similar things along similar lines (although not sure what diseases to even look at). The PEM thing being distinctive to ME is kind of difficult because 1. ME is a dumping pot for those who aren't properly investigated or treated over the years and 2. those with another illness tend to have acknowledgement and allowances in a way that e.g. I have often had the opposite over the years. So what is also unique is being horrendously ill and past tiredness and bullied instead of being allowed to rest or reduce activity with understanding. And for other illness doesn't need to explained or worried about as much because something else either explains it or helps it or both.

Who knows whether there are 'types', comorbidities etc. or just little treatment bits that help. 5-10% here or there can be 'built on' and make the difference between survival/future starting to add-up short and then long-term or not.

I have no idea how to even start conversations and with whom about getting to the bottom of things - I'm terrified of the very likely situation where getting it wrong with the wrong person and words provides ammunition for accusations in notes. Sadly my current health also stands in the way of doing anything scattergun, or being able to convince someone 'hard work' and not understanding of my limitations in a consult so would need to be very strategic in plan to get anywhere in order to limit exertion-inducing trips and present my 'best' in them etc.

I do know strangely that certain things have helped my health over the years (prescription stuff that isn't ME reccomended things like when I was on steroids, phototherapy - there is always a lot going on in unison at various points in time to unbundle). It's a shame because years ago when more naive it seemed someone would be hugely interested given some of the 'leads' in the old history.

On the other hand finding out that it is something addressable after the damage is undoable, having been a stoic hero thanks to instrumental conditioning (pat on head for going away and accepting, not happy if you push) would be another heart breakingly awful situation - whether it is for yourself or anyone else. That should be understandable.

 

I think that it is worth considering that an alternative diagnosis might come along at any time. One that may co-exist with or supplant the ME diagnosis.
I am 15 years down the track now - and only now, purely because my father happened to be included in the 100,000 genome project, does it seem as though I may gain a different diagnosis. I have no idea if this new diagnosis will be seen as additional to, or instead of….
It looks as though I may have to wait a number of months to find out as the system works so slowly.

If the doctors decide I dont have ME after all, then I don’t know how they will explain cognitive PEM, and my intolerance for sustained cognitive effort - neither of which would seem to be explainable by a muscular dystrophy diagnosis. But - does having lots of anti-nuclear antibodies result in fatigue of this sort?

It seems to me that it is, if not totally impossible, then certainly extremely unlikely, that one can find one doctor of sufficient knowledge of the breadth required to be able to answer these questions! And if you have several specialists, then you tend to get several competing answers.

It is immensely frustrating - but I think that the only way forward, at least for me, is to try to think of this as a long journey, that may not end, but one that hopefully will become clearer over time. At the same time, I have to try to live my life in a way that is meaningful for me and hopefully doesn’t accelerate any deterioration. Perhaps I should take up mindfulness….
Sorry I’m being flippant - but in a sense, that is the only way to be in order not to be driven crazy by it!

Open to all options, but trying to be ok with having none??

Maybe it is also easier for me as I am now 50. Lots of possibilities are now gone anyway in terms of what i might have done with my life so far. I have mourned them and mostly set the regrets to rest….

 

Same here. I don't mention "chronic fatigue". It would muddy the waters and would be a waste of time anyway.

 

I suppose it will always be in the back of our mind.

 

An alternative diagnosis is on my mind a lot. Even 35 years after a diagnosis of 'CFS/FM' I won't be able to accept it until there's a definitive biomarker.

 

It’s a difficult question, but prior to last year, I had become absolutely certain that I had ME, and only ME that could explain my symptoms.. to the extent that when something else was suggested, I was in hospital arguing with a neurologist that it certainly could not be something else, and at the very least, I still had ME *as well* as something else, because I had PEM. (Because I thought that PEM could only occur in ME, that is what is talked about, that it’s unique to ME). Suffice to say, the neurologist wasn’t convinced by my arguments. And it’s been a learning curve for me since then.

In hindsight, I wish that as @Daisybell said, I had considered that another diagnosis could potentially come along at any time - whether that’s in addition to or instead of. I think it would have helped me come to terms better with what happened.

ME does not have a biomarker, and has overlap with other conditions, so again knowing what I know now.. why did I stop thinking about other conditions or stop searching? I can’t have been sure it’s ME, not until a definitive biomarker came along for ME. But it’s also very hard not having certainty, and when I stopped searching, it gave me certainty and closure. I was diagnosed with ME and it explained my symptoms. When I questioned if I had something else, I was told basically, no. So it helped me come to terms with my life. It’s very hard living your life not knowing, and in the U.K. if you keep “doctor shopping” or having investigations, you’re even more likely to be labelled psychosomatic and a difficult patient. It’s almost impossible to keep getting investigations on the NHS anyway, and I certainly couldn’t have afforded to do privately the investigations that I’m having now on the NHS. I was also very unwell, even if I had somehow found a doctor. I also had no idea that metabolic myopathies and these other neurological and neuromuscular conditions even existed, so it has also been a shock to me.

It’s difficult for me to generalise because I know that what happened to me is quite rare, and not the most common thing. So I get worried about balancing what I say as I don’t want people to think what happened to me could definitely happen to everyone else, and cause people to get unwell/stressed or push themselves for testing even if they can’t cope with it. But still, knowing what I know now, I think it is always good to consider the possibility that something else could come up at any time. Especially if you have features out of keeping with ME, or new symptoms arise. whether that means just waiting and seeing if anything comes up (or something taking you by surprise, like me!), or actively keep searching, that depends on your own symptoms and personal situation, accessibility to hospitals, financial situation, etc.

And yes. ME has no biomarker, ME does have non-specific symptoms (even if we don’t like to think about that!), it has overlap with a lot of other conditions, and some other conditions do have treatments, when ME has none. Other conditions also have more support & monitoring - which is important for future health as well. So it’s better to know earlier, if there is something. I wish I could’ve been monitored earlier, than finding out suddenly after nearly dying.

Just incase this helps - as you seem curious about metabolic myopathy / mito disease in particular, there are blood panels that can be done for all the known genetic mutations for metabolic myopathy. It’s called a “metabolic myopathy panel”. A muscle biopsy can also aid in diagnosis. Sometimes these can give a diagnosis or a probable diagnosis. If these are negative, it doesn’t mean metabolic myopathy is excluded (as mitochondrial disease has further tests which take much longer), but unless you have clear clinical signs / symptoms of mitochondrial disease, it becomes much more unlikely that you have this condition. These tests could put your mind at ease.

Daisybell put it perfectly The neurologist said to me that it may take 5 years, 10 years, even longer to get answers, and was not fazed that we knew very little right now. I think for doctors who work in this field, they are used to this, but it is a difficult concept for us to encounter. I have seen in some research papers for mitochondrial disease, doctors are urged to “maintain high clinical suspicion” if certain signs/symptoms are present, which essentially means, do not stop thinking it is mitochondrial disease, and keep searching on behalf of your patient until you find it. So it’s often not a quick diagnosis.

For other conditions too - eg metabolic myopathies - there is new research happening all the time into new genetic variants. So being negative today, doesn’t mean someone won’t be positive for one in 20 years time. We are in a landscape where new research is happening all the time into genetic conditions, but that also means a lot of uncertainty. As I think you know.

So I try to think of my own situation now as a journey, however frustrating and worrying it is, in which new symptoms and diagnoses can arise. (With different doctors also having different opinions, at different times!). One that may take years, or much longer, for some clarity - and a lifelong one at that. even though I don’t have full certainty, I am trying to carry on with my life the best way I can, I still do pacing as I know it helps me. But I also try to be careful with things that may affect metabolic diseases (eg I turned down a surgery a month ago, which I would have otherwise had).

If I could go back in time, I would try to have pushed more for at least some of the tests I’ve had now, and also would’ve remained more curious about my symptoms rather than closing my mind to other conditions. I’m not saying my situation is exactly the same as everyone else’s, but hopefully it helps a little bit.

 

Out of interest, have you had a new diagnosis now, and what is it (if you don't mind sharing)?

 

Will PM you as this is a non members only thread!

 

Though it does not pertain to all cases of ME/CFS, one thing that Long Covid has made clear is that an ME-like illness can develop as a post-infectious condition.

So, if ME occurs in the wake of some kind of infection, I would think that would provide fairly strong evidence that the infection “triggered” ME, rather than it being caused by some rare but testable condition that shares symptoms with ME (unless that condition can also be triggered by an immune challenge).

Statistically, of course, some (presumably small) number of people will just happen by chance to develop a rare condition in the wake of an infection, injury, toxic exposure, etc…

Again, this is not to say that ME/CFS has to follow some kind of immune challenge – only that if it does – and no other explanation can be found – it seems likely that it actually is ME/CFS and not something rare that could be diagnosed if only some doctor could think of the right test.

I know this doesn’t help people who didn’t have a post-immune challenge onset, but maybe it might be useful to those who did.


[Ironically, looked at this way, post-infectious ME/CFS cases become the "horses" in the old medical adage that "When you you hear hoofbeats outside, think horses, not zebras."]

 

I promise I’m not trying to argue, but in terms of the conditions strategist is talking about above, viral infections can trigger them. (I probably also had a viral onset - suspected but not confirmed, viral symptoms such as swollen lymph node & vertigo, no fever, later had viral antibodies).

just did a quick Google search on one type, not able to do more, but already found two links to mitochondrial disease & viral infection onset:

https://rarediseases.org/rare-diseases/maternally-inherited-leigh-syndrome-and-narp-syndrome/
“Many cases of MILS first become apparent following a viral infection.”

https://www.mito.org.au/projects_grants/viral-infection-in-mitochondrial-disease/
“Dysfunctional mitochondria cause a diverse group of multi-system human pathologies that often result in severe, progressive and lethal diseases for which there are no effective
treatments. This project will utilise a unique model of mitochondrial disease to examine how stress such as an infection can trigger the onset of mitochondrial disease, its progression and potential therapeutic mechanisms.”

(Edit: found another one:
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008604

“Mitochondrial diseases are the most commonly inherited metabolic disorders that are heterogenic and have varied disease onset and progression. Acquired infections and the associated inflammatory responses are known triggers for mitochondrial disease in the clinic and can cause progressive deterioration in patients with mitochondrial disease. Knowledge of how an infection causes and contributes to the progression of mitochondrial disease is completely lacking..” )

I just think there’s a lot we don’t know about other conditions. Again, not trying to say everyone has this condition but just want to point out its worth keeping an open mind, and not thinking that just because you had a viral onset, that it’s ME.

 

You'll get no argument from me. This is why I included the caveat, "unless that condition can also be triggered by an immune challenge."