Diagnosis vague – ‘MYOPATHY’

Hi Carolyn

Oh I have been where you are many many times, do not feel guilty, you have genuine feelings for genuine reasons – but it is the conscientious part of us that makes us feel guilty.

Diagnosis in the modern medical world is a minefield when so many conditions can have the same or similar symptoms to differing effects – we are all unique individuals.

Has any of your medicos mentioned ME? Again, I have no experience or knowledge to fall upon and it has likely been ruled out but it is nice to know that something has been signed out.

I was decades before a full diagnosis was made, they knew it was MD, but they were not sure of which one although there was a group thought it was FSH – it was not until a medico not knowing what to do sent me for a genetics test that is was confirmed.

As with 99& of tests, they can only ask a specific question “Is it this?” and the results will be yes or no .. they cannot ask “What is it” and get a full answer.

Stick with it, do go to Doctor’s even if it is just to tell them that they are wrong .

@mstinkerbell wrote:

Thanks for your encouragement. It gets very confusing & stressful! My GP has my condition listed as MD but when I corrected him he said it didn’t matter as it was all the same!! It seems he was referring to treatment (which it appears to be none for most MD). I asked about ME & CFS but doctors say it isn’t that – my tests do show abnormalities in the muscle & ME wouldn’t show that apparently. Ruled fibromyalgia too as I do t have ‘enough’ markers. I’ll have to keep searching. It just worries me whether it will progress as I’m always unwell … So it seems!!

Welcome to the Forum.

Sorry you are feeling the stress of these issues. This is all so understandable and so familiar as so many
of our members have been down this route. Muscle weakness / stiffness, possible diagnosis of ME / CFS / FMA,
lots of confusions and depression. GP’s not fully understanding, long delays. These are all things that are
common on this forum. There are many threads discussing them.

Currently there are 64 different types of MD, including many myopathies. It is not surprising that some people goes years
before diagnosis, some never get a full diagnosis.

What you are describing sounds familiar to many of the people here. Feel free to ask questions, browse
the site or just vent.

Welcome.

Hi. I’m relatively new to this forum, but so far it’s been the greatest support I’ve come across . I am in very similar position to you. Was first diagnosed with ME in 2007 but have since been found to have slight clinical weakness in climbing stairs or getting up from crouched (frustrating as the weakness has been ruining my life for years and years, and only now have they called it weakness!!) and also a very raised ck level. So the rheumatologist has given up trying to label me with poly myositis or lupus etc. I too tried all the drugs you have but they’ve found no inflammation rendering the drugs pointless. So now the neurologist calls it a genetic myopathy and he believes it will progress slowly and show itself to be md. The gp still says it’s chronic fatigue though. It makes me mad! So annoying not being taken seriously. And being given the wrong advice. My gp did an exercise referral for me but the neuro says is a bad idea. Basically, he says I should exercise but it means not exhausting myself in normal tasks first, so that I’m able to exercise. The other annoying thing is that according to the drs the pain/cramp I am debilitated by, the poor immune system meaning I’m constantly battling virus’ and the total exhaustion and sleepiness is not characteristic of MD. But ppl on this forum say it is. I’ve also realised that the drs are great but really without being willing to spend thousands on all the many genetic tests there is actually very little they know. And if new strains of md are being discovered then surely they can’t say that our symptoms are not characteristic?? I too feel guilty and angry. I also feel like perhaps my depression is causing the symptoms, but I’m told by drs and my husband that that’s rubbish- the fact that my blood ck is sky high proves that. I’ve been offered a referral to Newcastle as it’s a leading md centre. Perhaps that’s open to you? I did have to ask. The thing with being referred is that Newcastle will be able to test for more. I hope you get some answers. In the mean time- don’t be hard on yourself. And follow what your body is telling you. I stubbornly carried on exercising and constantly overdoing it. I don’t think it harmed or harped tbh- but now I’m too tired to do much at all. And I can’t envisage myself running now that I struggle to climb stairs quickly. I guess it progressed so slowly that every now and that it takes a certain lost skill to make us realise how bad it’s got. It changes who we are. One thing that is irritating is that there’s no info out there as to how the various dystrophies and myopathies present at the very earliest points of illness. So it’s hard to know whether what we are feeling is indicative of any particular diagnosis. I would still say most ppl wouldn’t guess that I have a myopathy. However, it’ affects every part of my life. I worry about stairs and avoid them but can still climb them without being too noticeably disabled. It’s hard for me to accept that it might be MD. When I function. But mostly I sleep and still no answers!! Wish you all the best…. Keep us posted. Xx

I am aware this post was put up many years ago so I do apologise but I thought this also seemed relevant to my situation

I’ve been in the same boat as you now for the last 23 years and still to this day I’ve only got a vague diagnosis of ‘Metabolic Myopathy’. I’m 25 now and I was referred to a specialist Orthopaedic consultant when I was 2 and I’m still under the same team of specialists to this day. I’ve had multiple biopsies, EMG’s, MRI’s and every other test you can think of between here and Timbuktu in that time, so I understand where you’re coming from. I was diagnosed with ME/Chronic Fatigue in 2008 which for a long while seemed to take much of the emphasis away from the mainly muscle related issues I’d presented with from very early childhood – which we now know isn’t actually directly connected with my ME/CFS diagnosis. The ME just exacerbates the other ‘unspecified’ condition. Now I have a diagnosis of ME/CFS and Metabolic Myopathy. Prior to that I had several false diagnosis’s which included Duchenne’s Muscular Dystrophy and Phosphoglycerate Kinase Deficiency – both later got pushed to the wayside after further testing. The problem with that sort of diagnosis is that there are many myopathies and new ones are being discovered all of the time. For example, trying to declare you have a ‘Myopathy’ to an insurer or other non-medical institution is an absolute nightmare and the mental strain of having non-medical people cross examining you because technically you don’t have a recognised diagnosis after several decades of medical testing, is enough to send a sane person doo-lally. It’s like telling your car insurer you own a car; its a Ford but you can’t tell them what model, colour or registration number – yet you know it’s your car!

Nobody should ever feel guilty for the way they feel and it’s very easy to self-reflect on ourselves as if it’s us which have some kind of mental disorder which is causing our symptoms (hypochondriac). Funnily enough, a few years ago I actually had a Doctor suggest that maybe psychological testing would be beneficial for me to rule out whether the pain, cramping, delayed motor skills and weakness I’ve experienced since I was very young was caused by some kind of mental disorder since the physical tests that had previously come back neither proved nor disproved anything. Needless to say, a serious complaint was raised regarding that analysis!

It’s perfectly normal to show concern, distress or confusion with these kinds of things. How I get by is simply by being aware of my limits and telling myself that it’s okay that I can’t do XYZ, but reminding myself of the things I can do and the things I’ve actually accomplished. I often feel unwell from both the muscle condition and ME, and sometimes those symptoms along with the daily pressures of life (e.g. going to work etc) can be overwhelming and it’s a struggle control them in a way you’re living a balanced life you’re happy with. It doesn’t help that we can often feel alone, as personally I know of no other individuals around where I live which have the same issues I’ve grown up with, so you feel like there is no one else that can relate to your situation and support can feel limited. Myopathy diagnosis isn’t ideal because there isn’t any given treatment pathway for it other than things like light aerobic exercise, but they’re not really a ‘treatment’ as such. It’s a hard slog and sometimes it’s difficult to see the light at the end of the tunnel, but when it’s dark grab a torch and make your own light. Nobody is ever truly alone and a wise person once said “life is what you make it” – follow that advice and listen to what your body is telling you and there’s no reason we can’t all live a good, happy and successful life – with or without a diagnosis!

I hope that’s helpful, even though the original post is now 7 years old