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.
. It would muddy the waters and would be a waste of time anyway.
