Are you Diagnosed?
 

Hi everyone - as some of you know I am new here and have been having fluctuating symptoms for 9 years and despite MG being suspected after the AChR test it was ruled out....twice! I am now on Neuro#2 and finally having further tests and currently awaiting nerve/muscle tests for my face......To be honest I am dreading them as I know these tests seem a little hit and miss at the best if times and whether these tests confirm my new Neuro's strong suspicion that I do have MG, I think, at some point in my life I will be diagnosed with it, like my Neuro said - There is nothing else it could be!

However, I am we'll aware that this road is anything but simple and you have all helped, supported and educated me with your experiences which, in all honesty, leave me baffled! How can some of you be diagnosed by one Dr and then have another Dr take the diagnosis away? I have read your ER stories and the horrible treatment you have received, some of you during a crisis?! I have never heard of another medical condition where such scrutiny is placed on the diagnosis - mainly through ignorance from what I can see?! I have 2 brothers, one with diabetes and one with nephrology and epilepsy and if one them needed medical assistance to then be challenged or ridiculed as some of you have been I would be appalled and I am sure the medical system would support me - so why is MG any different?!

Sorry to rant but the fluctuating, debilitating nature of MG is cruel enough without this to deal with! Your stories and my own struggles have left me curious and I wanted to ask - how many of you are actually diagnosed and by what test/method (if you don't mind me asking) and also, has anyone had their diagnosis removed and even reinstated again??

I hope you all don't think that I am being nosey - I am just curious and a little sad that we are all going through this AND having to fight for answers and help.....the fight takes up so much of our precious energy that could be far better spent on the things we love in life!x

This is ONLY my personal opinion: Any physician who would order an antibodies test and then RULE OUT MG when it comes back negative knows next to nothing about MG. I personally would never go back to such a doctor unless he or she were the only doctor I could see.

My neuro told me that 10 percent of people with MG are negative on all tests, including the SFEMG. My own diagnosis was based on a very positive response to Mestinon. It literally got me out of a wheelchair and walking again.

If your physician continues to be closed minded, find yourself a better doc. :)

I had symptoms for probably five years. At first there were mild enough to ignore. After surgery 1 1/2 yr ago, the MG came on so strong and never went away I had already been visiting specialist for a year, so it took 2 years to get diagnosed. And I only got my diagnosis because this forum pointed me to a neuro optomologist and then a neuromuscular specialist, otherwise, I would still be going around in circles.

I am sero negative - ACH and musk. I was diagnosed by a single fiber EMG. MGers are misdiagnosed and treated so badly because the disease is so rare only about 20 per 100,000. That means most doctors - GPs and neuros have never seen it. If you go to them with all these seemingly unrelated symptoms they think you are a hypochondriac or have mental issues. I think this is especiailly true because this and other autoimmune diseases are 4 times more likely in women. I have heard so many times that my symptoms were hormonal or related to menopause or perhaps I need an antidepressant. Unless you go to a neuromuscular specialist at a big teaching hospital that sees MG all the time, this is how you get treated.

kathie

Double sero-negative here, diagnosed by SFEMG. In my case, my local neuro sent me to see an MG specialist. Since I saw the specialist on my neuro's recommendation, when the specialist gave me the diagnosis, my local neuro accepted it.

Abby

If you have vision problems I suggest a Neuro-Opto it seem they DX a large percent of MG'ers.
Mike

I am double sero-negative as well but have had the basic symptoms for about a year. Those included weakness after muscle usage (legs, hips, hands), voice changing and breathing issues, and finally this past April I got a nasty virus of some sort and all went haywire. I started with extreme weakness after muscle usage, double vision and swallowing problems. The breathing got worse and I could hardly catch my breath when talking to someone.

I was fortunate in that with the symptoms I had and the strong response to a trial of Mestinon that I had a Dx of MG in April, and by just 2 weeks ago had a 5 day series of IVIG. Despite some complications with the IVIG, I have noticed a significant improvement in the symptoms a week after the IVIG was completed.

Joe

I am still technically undiagnosed, but I do get IVIG for this mystery illness - going on over 2 years for me - onset post partum- the epidural caused me to almost get intubated, and then a surgical procedure gone wrong a few weeks later and It was all downhill.. My neuro is very close minded - if the tests are negative you dont have it! When I mentioned seronegative MG - he looked shocked, and said yea, guess that could be something - ugh!

I also wonder about seronegative LEMS.. but he is even more close minded to this idea.. however, I get my IVIG.. so I stay there.. whatever I have responds to IVIG.. and I can't breathe or hardly move without it.. sooo who knows

Mentally, all of this would be so much easier if I had the answer - though you still can't predict what's going to happen with each disease name, at least you have some sort of idea... limbo land is stressful!!

I was diagnosed by positive Tensilon test and positive response to Mestinon and prednisone. Antibody negative and EMG negative. Unfortunate that it took 7 years to get there. Even after being seen by a "leading" neuro ophthalmologist and neuromuscular specialist at a large teaching institution. Weakness was "not physiologic" according to the experts. :confused: Hmm.... If I sound bitter, it's because I am.

Doing better now and being followed by a wonderful neurologist. Trying to put the past behind me, but often think that I would have had a better response to therapies had I been treated a bit sooner. Double vision has never cleared, except on high doses of prednisone. Retired early due to all this. Learning to pace myself and enjoy the little things in life. :)

My first blood test was negative for MG, but double vision kept getting worse. Optha sent me to neuro optha...she said there is a high frequency of false negatives on MG and wanted to do it again. This time, it was positive. Now seeing two different neuros....one in my hometown and one a few hours a way that specializes more in MG. he stated that once I had a positive....it would be not need for ever testing again....

So sorry for your frustration....

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.

P.S.
I don’t know if you are a man of a women But many women with autoimmune diseases have trouble getting diagnosed in my experience (women with mitochondrial disease as well by the way). Almost all the women with autoimmune disease I personally know, have heard at some point that it was 'probably stress, depression, etc' before they got a diagnosis

If you go an read posts on any forum about any autoimmune disease that isn’t very visible from the start (like RA or something) you will find many women there who share the same experience.

Funnily enough I just found out that in most autoimmune disease the majority of the patients are women, this is the same as in patients who have a 'psychosomatic' diagnosis. Maybe we should organize a book burning and burn every book from Freud ever published. The only reason I would like to have a male genitals is because it would probably get me diagnosed a lot quicker.

Matilda- been there (as far as the "oh your just a stressed out new mom conversation/looks).. anyhow.. YOu say you have a skin disease as well - what does that look like - ever thought of dermatomyositis? Did you have a muscle biopsy?? (isn't that the way to definitively diagnose mitochondrial dz? (along with poly and dermatomyosiits).. anyhow.. just a thought (as I am in limbo land too, so I'm always thinking of possibilities to explain it all).

diagnosing Mito
 

Muscle biopsy is no longer the gold standard for diagnosing Mitochondrial disease.

There are a number of diagnostic tools used.

Metabolic Labs-urine and blood(some very specialized)

Genetics-

Clinical examination(more then 2 organ systems involved)

Ruling out any other possible disease process.

Mito is one of the most difficult diseases to diagnosis. Sometimes Mito can be primary or secondary(secondary to nutrition,diabetes,cancer,medications etc). Currently, only a small percent of the overall population of Mito Patients has a gene mutation identified as disease causing. Mito can be because of either mutations/deletions/depletions in mtDNA or nDNA. It can cause poor function of the mitochondria(Function I,II, III, etc).

Muscle biopsy for Mito is though the only way to definitely diagnose Mitochondrial Depletion, for 80 percent of those with a depletion. Only 20 percent of have gene identified. The best part about a biopsy is that it can rule out many other diseases of the muscle.

They are now using swab testing of saliva even for testing.

The specialist are really working hard to find less invasive ways to diagnose. For many with Mitochondrial disease something like a muscle biopsy is incredibly difficult on their energy and ability to heal and recover.

For our daughter, all metabolic labwork was normal. Nothing indicated a Mitochondrial Disease, so we went ahead and did the biopsy(second one) more to see if there was another disease of the muscle- to our surprise they found the depletion.

THanks Dinydeek! I didn't know there were so many other ways to test for it! Is the muscle biopsy a big procedure? That is one stone that is unturned for me as of now, and I wonder to myself - do I have a dermato or polymyositis with a normal ck and adolase, do I Have mito dz- likely no, but I have been debating if I want to push for a biopsy, though I can't do anesthesia, as whatever I have is affected by epidurals and general anesthesia (respiratory distress etc).. .. if they could do it under local, I think I might consider it..

Hi Bny806,

Thanks for the information.

The skin disease was diagnosed by a skin biopsy. My skin disease also behaves, looks and responds the way it is supposed to if you´ve got that disease. I’ve looked at picture of de diseases you said but it doesn’t look like I have that.

I have read somewhere that you respond to IVIG very well. Mitochondrial disease is an inherited disease that doesn’t respond to IVIG. If you respond to IVIG you most probably got some autoimmune disease.

Very true Matlida- I stress that maybe it's all placebo effect (the ivig) I think I have a bit of PTSD from the first dr I saw with all of this who said he thought it was ALS.. (i was 30 a few weeks post partum with two kids 16 months and under)- total panic.. I feel much much much better than I did, but some things seem a touch worse or different too, which makes my mind wonder, though I Try to not let it! I have weird skin rashes a lot too - and horrid joint aches.. (my ANA is always pretty high), so they all say it's something autoimmune.. esp with such a strong family hx of autoimmune stuff.. but again, my mind just worries without definitive diagnosis!

I had progressive fatigable weakness in which various rotating myasthenic muscle sets were severely exacerbated by exercise, heat and diurnal variations for over a 3 year period. By the time it all reached a peak I almost needed a wheelchair and could barely brush my teeth or hold a drink up to my mouth. I would get a particle of rice stuck in the esophagus for up to an hour and sound like a drunk by the end of my child´s short bed time story, if I could stay up that long to read it. Mestinon helped tremendously – even at the tail end of all of this whilst going into a slow remission. Here is some of what I encountered as obstacles to diagnosis:

I personally would actually put my own weakness down to´overuse´of muscles at the work place over time and also down to age. I also stayed with a doctor for quite a long time until the final straw for me. Not once was my weakness clinically tested in his office, yet it was gradually deteriorating to the point where I was not able to do the things someone´s 90 year old mother-in-law could do - and I had just passed 40.

MG is a´big picture´disease. A doctor hung up with and scrutinizing only the small details in isolation cannot possibly make a sound diagnosis or refer correctly. Negative tests also do not rule out MG. Unfortunately it is easy for doctors to put patients with fluctuating symptoms into psychosomatic tumble dryers during the diagnostic process. I have been diagnosed twice abroad with a suspected myasthenia gravis diagnosis despite negative tests. Yet when I came home I had to start all over again from scratch. By the time 5 years is over I have gradually gone into remission of all my symptoms all on my own.

So yes! With the success rate in diagnosing MG, it is even possible to go into remission from the disease before you even get a diagnosis for it!

What´s more, for some, the diagnostic process for MG can be so erratic, unpredictable, irrational and demeaning that that process in itself might just be exactly what is needed for you to get that additional psychosomatic co-disease that you never had when you first started with MG and that you wouldn´t have spontaneously acquired either - at least, not until you set foot in the doctor´s office!

Best of Luck :)


Anacrusis

This is so true Anacrusis!!

Thank you all for your stories, it is amazing the different symptoms, diagnostic results etc! Whether I have MG or not I really hope and Pray that research discovers and more consistently reliable method of testing....and treating this cruel disease...and SOON!

Matilda I wish you all the luck in the world, your story has truly shocked me, no one should have to endure the treatment you have received over the years! (I am female and have already been put in the "Psychological Factors" box - I currently have one foot out, but will not be surprised to be thrown straight back in!)

Thanks again everyone :grouphug:

Mitochondrial Disease is tricky. Many Mitochondrial Disease patients use IVIG to treat the secondary issues caused by the Mito. It has proven to be very helpful for the population that needs it.

Mito can cause anything from a tremor to constant illness to deafness to heart disease to kidney issues to liver, seizures,and a zillion other symptoms and secondary disease processes- it is now being connected to Huntington's, Parkinson's, cancers even. The most common symptom is profound fatigue.

It is a very complex disease processes with anything from very mild symptoms to extreme,sudden and life threatening.

When all other diseases have been ruled out, a referral to a Mito Specialist can be the next best step.

The muscle biopsy is an outpatient procedure for many adults. Not comfortable, but there is certainly worse tests.