I'm not diagnosed, but I suppose I will be some day (I hope soon, since I've been having problems for more than 25 years now). My problem at the moment is that I live in a small country. I have seen all the experts already, and they all say that I don’t have a myasthenic disorder.

I had a diagnosis of 'probably a mitochondrial disorder' for the last 6-7 years (before that I was lazy, depressed, exaggerating, mentally disturbed, seeking attention etc.) but my symptoms have always been very variable. To some extent that can be the case in mitochondrial disorders and I had been explaining away the rest of the variation (just done to much, stress, maybe I’ve got a cold coming). Then I got a really bad period again about 2,5-3 years ago and I wasn’t able to keep up in daily life (which is already quit limited, partime job, no sport, few hobbies, barely a social life). When I started physiotherapy I was shocked to find out how weak some muscles were, I was using lots of tricks to compensate those weaknesses, so I was able to do most daily life tasks, but I was hurting from top to too from overusing my muscles and laying down every moment I wasn’t doing something I had to do.

About three months after starting my rehabilitation treatment I was doing a test with the physiotherapist to try to establish the level at which I would be able to train (since my symptoms seemed to fluctuate). That didn’t go very well, walking with about 5km/h made my legs feel like I was trying to run through a swamp or something like that. Then about a month later I went to see a cardiologist to find out if I had any heartproblems due to the suspected mitochondrial disorder. During that evaluation I had a maximum exercise test which, among other things like heartproblems, also establishes you ability to metabolize oxygen. Problems with metabolizing oxygen is exactly ‘the problem’ in mitochondrial disorder. To my surprise I scored average, this isn’t possible if you have mitochondrial disease in you legmuscles, so my problems with walking a few weeks before could in my opinion never be explained by a mitochondrial disorder.

At first I thought all the doctors that had told me it was all in my head before were right after all. But then I found out about myasthenia gravis. The first two doctors dismissed my idea, they had never heard of a maximum exercise test, they wrote to my GP that I probably had.. a mitochondrial disorder. Although they did test for MG to sooth my concern. Then I went to see the specialist in mitochondrial disorders that I had seen 7 years before, he confirmed that you can’t have disfunctioning mitochondria in September and then have them working perfectly well in October.

Then I went to see the third myasthenia specialist, by then I had already found out that all my ailments could be explained much better by LEMS instead of MG I hardly have any facial, bulbar or eye weakness, most problems are in my neck, trunk, pelvic girdle an leg muscles. I also have: dry eyes (confirmed with a test), dry mouth/thirsty feeling (been tested for diabetes so many times I can’t remember), constipation, orthostatic disturbances (which have been varyingly attributed to deconditioning, my autoimmune thyroid problem, exaggerating etc.). LEMS instead of MG would also explain why I had some reaction to the mestinon trial I had been able to elicit, but not as much as you would expect. At first this third specialist was very friendly and confirmed my analysis that most symptoms fit LEMS. Then I went for another round of EMG tests. Those all came back negative… then he took a 180 degree turn and said this didn’t look like LEMS after all…

Till now I’ve had 3 EMG’s with repeated stimulation (RNS EMG) and 2 single fiber EMG’s One RNS EMG gave a doubtful result, one single fiber EMG gave a doubtful result, the other ones were negative. I have had 2 antibodies test for Anti-acetylcholine receptor antibodies, one for Musk and one for VGCC (LEMS). All were negative.

However I am responding to medication for LEMS (which the last doctor gave me ‘So I wouldn’t feel that all doctors are against me’). Without medication I can’t get up from a squatting position without using my hands, with the 3,4 DAP combined with mestinon, I can do 10-12 deep kneebends (then I get to weak to repeat the movement). I have a feeling the last doctor is thinking of a psychological cause again, because in his opinion all tests were negative (also the ones with doubtful results). I see him next week and frankly I am quit desperate.

Bizarrely enough my diagnosis of ‘probably a mitochondrial disorder’ was made without any hard evidence, it based on the combination of other diseases/ailments I already have been diagnosed with. But with the exception of an eye disease and a hearing disorder all my unexplained symptoms can be explained by LEMS. I also have one autoimmune disease (slow thyroid) and a skin disease that is probably autoimmune in nature. Many people in my family suffer from health problems, which could indeed be explained by ‘a mitochondrial disorder’ (this was taken into account also when I got the ‘probably mitochondrial disease’ diagnosis). But everything could be explained just as well by ‘a dominantly inherited disorder with hearing loss and retinis pigmentosa’ AND ‘a great susceptibility of getting auto-immune diseases’.

So now I am in the situation were I finally succeeded in getting my ‘probably mitochondrial disorder’ diagnosis withdrawn (which took a hell of a lot of effort from my side). The medications for the disease all three specialist say I don’t have now have an effect which is way to impressive to be a placebo effect. But I don’t know if the doctor is willing to prescribe them any longer. And I am about to be diagnosed with a ‘psychological problem’ again. While I was the one who spent almost two years getting the diagnosis ‘probably mitochondrial disease’ withdrawn. Why in heaven’s name would I do that if actually I was having a psychological problem I wasn’t able/willing to address. I could have been on permanent disability benefits by now if I had wanted to. Which would be very good were I live, my financial situation would be about the same as now working parttime. Then I would have had the energy to do the things I like. But I chose not to since I thought I would be able to work and do nice things, since the only possible explanation in my eyes was a treatable disease.