I'm new here and haven't been diagnosed with MG. Frankly, I'm not sure if I should be. But I've been having "spells" that no one can understand, diagnose, or treat, and I am lost as far as diagnosis is concerned. I have competing issues, so determining what is causing what seems virtually impossible. I've been getting a cardiac workup since I have a heart condition or two and a pacemaker, but the tests are coming back fine, so it seems like maybe I'm barking up the wrong tree. I also have autoimmune issues, but aside from antiphospholipid syndrome, we haven't been able to pinpoint an autoimmune cause of my symptoms.

Anyway, without belaboring my long and harrowing story, I wanted to know how many of those on this site who have official MG diagnoses have positive ACHR antibodies and/or if other criteria/tests were used to solidify the dx.

I am awaiting the antibody test results now, but I want to get a better handle on what they could mean when they arrive.

Thanks in advance!

Jenny

Hi, Jenny. Welcome. There's a wealth of knowledge and support here.

The main thing to know about MG is that it's all about fatigable muscle weakness. When you use a muscle in a repetitive or sustained way, it can get weaker. Why? Antibodies attack the neuromuscular junction where the muscles and nerves come together, damaging the area where acetylcholine (ah-seat-ill-co-lean) goes into the muscle. I call acetylcholine (AChR), a neurotransmitter, our "muscle gas." We have enough of it but we don't have enough openings for it to get to our muscles. Does that make sense? Kind of like trying to fill up your car's gas tank with an eye dropper.

At least for me, MG is all about alternating activity with rest . . . and drugs. And common sense. If you push yourself too hard with MG, your muscles can weaken to the point of not being able to walk, talk, swallow or breathe. A common initial complaint is ptosis (toe-sis), accompanied by double vision. It's when the muscles around the eyes get weak and, therefore, don't focus equally on objects. Some patients have neck weakness as a first sign and for others it might be needing to nap! MG is different for everyone. Some people have a mild case and others are on multiple drugs and not doing well. There's no way to predict - if you have MG - how you will do with it.

You can also be mild in the morning and more severe by the end of the day's activities. Many MG experts are fond of saying that the only thing predictable about MG is its unpredictability.

MG is mainly a clinical diagnosis that is backed up with tests. The main tests are the AChR binding and modulating antibodies or the MuSK antibodies, a repetitive nerve stimulation test, an EMG and a Single Fiber EMG. Some doctors still do the Tensilon test and there are still times they do an "Ice Pack Test," especially in an ER setting. Obvious muscle weakness, like that of the face, will improve with Tensilon, cold or Mestinon (a main drug used for MG).

You can have MG and not have positive antibodies. It's a complicated issue, this testing/diagnostic process because it's not always as simple as A, B, C. I have positive AChR antibodies, a positive Tensilon test and a borderline SFEMG. Clinically, it's very obvious that I have fatigable weakness that gets better with Mestinon, Tensilon and rest. It's important for you to be evaluated by an MG expert if you can because some "regular" neurologists may only go by the one paragraph alogrithm from their medical books!

I'm not going to give you much more info. I think it's important that you do "belabor" your story! We're not doctors but we might be able to help you better if we had more information. I'm sorry you have a heart condition. I know someone with APS and it's no picnic. It's quite common for those with autoimmune diseases to have it.

What have the doctors told you? What are your symptoms?

Share what you feel like sharing. Everyone here is great at helping. I hope you get answers soon.

Annie

I tested negative for the antibodies three times (and once for MuSK). My first two SFEMGs were border-line. After that my neurologist sent me to another neurologist who gave me a third SFEMG and thought it was conclusive. The whole process took 15 months (but it took a few months to get that first appointment with the neurologist).

I think my diagnosis was delayed because my symptoms are atypical. No ptosis, no vision trouble. My first symptom was balance trouble, which it took me months to understand was caused by weak muscles in my sides.

Abby

I really appreciate hearing your experiences. In fact, reading about someone's experiences is what prompted me to start looking into MG in the first place. I have been at a loss and read someone's posting about an episode she had had. (I think it was on a different website, but maybe here - I got it through Google.) It was like reading an excerpt from my own journal. I had never heard anyone describe so perfectly what I feel as I end up in a heap on the floor. So I started doing some research. There are definitely aspects of my situation that fit, but some that don't, hence my confusion. I asked my dr. for the test and he ran Quest Diagnostics MG panel. I'm not really sure all the tests included in that - I had only asked for ACHR. I've kind of decided that if it comes back negative, I will not pursue this direction further. But maybe I will. I'm getting pretty desperate.

My story is extremely long and I'm not really sure what's the most relevant, at this point, so I'll throw it all out there. It all started 20 years ago in my teens. At the time, I presented with pretty typical autoimmune symptoms including rashes, pain, fatigue, photosensitivity and the like. But it was near impossible to narrow it down. And I didn't know anything about the medical field way back then. After a few years of this, things calmed down and I returned to a more or less normal life.

A few years later I was struck with intense GI pain to the point that I couldn't eat for about a year. I lost a lot of weight (and being so young, I didn't have much to lose), but diagnosis remained elusive. Again, symptoms seemed to resolve on their own and I returned to a more normal life.

After a couple of more years, when I was in my early 20s, I began having confusional episodes, which were diagnosed as TIAs resulting from antiphospholipid syndrome. They resolved with coumadin therapy and I returned to a more stable life. But normalcy was short-lived and I was soon passing out randomly - at work, on the street, and in the pool during my water aerobics classes. The problem was diagnosed as second degree heart block, neurocardiogenic syncope, and postural orthostatic tachycardia syndrome. My symptoms improved with the implantation of a pacemaker and meds.

Pacemaker settings were adjusted inappropriately a few times resulting in recurrence of the fainting, but otherwise I had a few years of relatively stable health.

Next I experienced severe abdominal pain. Again, no diagnosis was confirmed, but the doctor presumed endometriosis and the pain eventually subsided with treatment.

Then, in my late 20s, I broke my pelvis running. Yes, running, not falling. I was diagnosed with osteopenia.

A couple of years later, I experienced a series of GI bleeds, leading to the discovery of colon polyps which were apparently not responsible for the bleeds, but definitely a fortuitous find. The GI bleeds became life threatening and I was transfused. Eventually they too resolved on their own.

And then in January of this year, I began having serious vision problems - lots of double vision. I went to get my eyes checked and was told I have perfect vision, but that doesn't explain why I feel like I can't see. It's almost like my eyes get tired of focusing and so they stop working together. When I get tired it's so much worse. And by the end of the day, I can't read anything without a lot of effort.

In May, I started passing out again. But the episodes are a bit different and do not necessarily involve loss of consciousness. Although I may briefly lose consciousness (it's hard to tell from my vantage point on the floor/ground), there is a significant period of time when I am fully aware of what is going on around me, but am unable to respond in any way. It takes everything I have sometimes just to keep breathing. And if I get turned on my back during one of these episodes, I can't breathe at all. It's like I don't have the strength to expand my lungs against the pull of gravity.

On Sunday, I had one of these episodes. I was sitting in a church meeting and became extremely fatigued. I leaned forward, resting my head on my arms, but they were tired too. I breathed deeply (if this is an NCS or POTS episode then such efforts could help), but I quickly realized that I needed to leave. I left the room, walked about 10 steps to an adjoining room and collapsed on the floor. I was so fatigued I couldn't respond. I couldn't move my arms or even open my eyes. I was just lying there. I could hear other people coming in and trying to decide what to do with me and, being the control freak that I am, I definitely wanted to intervene, but could do nothing. At one point they turned me on my back and my breathing became virtually impossible. I could tell I was going to be in serious trouble if I didn't get onto my side. Eventually I was able to use my body weight as leverage to roll back over. After about an hour of lying on the floor, I was able to open my eyes. Fifteen minutes later, I was able to sit up with support. And within another 10 mins, I was able to be transferred to a car and ride back to my apartment, with very short periods of walking. My legs were shaking as if I had just completed a major workout. And I was so exhausted, all I wanted to do was sleep. Unfortunately, sleep did not come. But again I was too exhausted to move for a couple of hours.

In general, I have a lot of weakness in my hands and arms, resulting in pretty severe tremors after prolonged use (and sometimes after really short use, depending on the day). I have trouble chewing chewy things and have to take breaks. My head is often too heavy to hold up by itself so I lean it on the back of my chair or prop my arm on something and lean my head on it.

So, that's my story, in a very long nutshell. I'm getting a little desperate because I can't keep randomly losing functioning - it's dangerous for me, especially since I'm on coumadin - and I really want to get back to regular life. Not to mention the fact that I really can't afford all the ambulance and ER bills that inevitably result when I lose control in a public place. Plus, I really want to running (which I haven't been able to do safely for quite some time). I miss my life!

PS I just got back from Mayo clinic because it was assumed these problems were associated with my cardiac issues. Turns out they don't seem to be.

Jenny,

We have some really knowledgeable people here, and I hope they will respond with some suggestions. Meanwhile, I have a piece of general advice, which you may already be doing: keep a journal! Write down what you ate and when, what activities you have been doing, how much sleep you got, what the temperature and weather is, whether anything emotional is going on, where you are in your cycle (if you have one), and everything else you can think of. I thought I had a good handle on my triggers until I tried journaling just for a couple of weeks, and I was amazed at the connections I'd missed.

Has anyone ever mentioned hyperkalemic or hypokalemic periodic paralysis to you? If not, it may be worth typing into google.

One thing I've noticed: when you read about MG, you don't really read about it coming in "episodes" like you describe, but I think for many of us it does. I have normal MG symptoms that gradually worsen as I get tired. But I also have short-lived (lasting less than an hour) episodes where I suddenly get very weak. I sometimes end up on the floor because my legs are simply too weak to hold me up. I don't crash down--it's more of a slow collapse. I don't black out, and my "episodes" aren't nearly as severe as the ones you describe. But I think of my MG as causing two problems: the general weakness, and these "spells." It's not that they're unrelated--the spells tend to happen when I'm especially weak--it's just that they are two separate things to deal with.

I hope you get some answers soon.

Abby

Jenny, Given your teen symptoms, didn't anyone think lupus? What about polymyositis? Do you still get rashes? If so, has anyone done a punch biopsy? If they tested you for lupus back then, has anyone done so since? Lupus is a multi-system disease, as I'm sure you know, and it can wreak havoc anywhere it wants to. Including the GI tract. Have you consulted with a gastroenterologist? Did they check for the cardiolipin antibodies? Given your heart issue, you might want to get that checked out right away. Do you have a rheumatologist you can see?

Silly Mayo doctors, what does the heart have to do with muscle weakness.

Are you weak on a daily basis? Do you have trouble doing simple tasks?

I hope you'll get your vitamin D checked. And B12 and folic acid.

Does your double vision go away if you close one eye? Binocular DV is what MGers have and it goes away with the closing of one eye. Monocular DV does not. Have you seen a neuro-ophthalmologist to try to determine why the DV? A regular ophthalmologist is not the way to go.

I volunteered my design/writing to the local lupus foundation for 10 years, so I know a lot about it. I can't help but think you could have that AND another AI. Yeah, you could have MG. Fluctuating muscle weakness is the hallmark of MG. But patients with polymyositis can look like an MGer too. My aunt had that. Have they done a CPK (creatine phosphokinase) test?

http://www.fpnotebook.com/cv/Lab/CrtnPhsphkns.htm

I'm sorry to say that it sounds like you need more doctoring. Always get a second opinion if someone "decides" you have a disease state. Mistakes do happen in medicine. I really hope you can get help with all of this. I'm sorry you've gone through so much.

Annie

I wish there were more physicians and patients who realized that...

Thanks! This is a great suggestion. I've been journaling in narrative format for years, just to get it off my chest, but I've set up a spreadsheet now where I track everything. Particularly since I went to Mayo. I want to have something that shows in a less subjective way what I am experiencing.

No one's ever mentioned it to me - we all thought these were just aborted syncopal episodes associated with my NCS and POTS. It wasn't until Mayo when tests seemed to indicate that they might not be that I started trying to work with drs to figure it out more. However, I've run across PP on the internet and subscribe to a list serve. It's another area where a lot fits, but a lot doesn't. I've never tested high or low for potassium and I am on a high salt diet for the POTS and that doesn't seem to make me worse. (Doesn't make me better either, but for PP, I would expect it to make me worse.) Testing for PP is tough too, so I'm trying to rule out the easier things first.

I call it a "controlled collapse." I wondered how it fits with MG. Is there normally warning for you before you have these spells?

Thanks again for your input!

Thanks for your wealth of ideas and knowledge, Annie.

Yes, they looked at lupus. I had positive ANA, high titers, speckled pattern, photosensitivity (eyes swelled shut in sun), malar rash in sun, joint pains, etc. etc. They treated me with prednisone, but felt that I didn't meet enough of the criteria for an official dx.

Since then, we've gone back and forth. I was diagnosed for a while, but then undiagnosed. Rheumatologists feel like I'm too healthy for treatment and frankly, I don't want to do prednisone.

I saw a rheumy at Mayo, but everyone was looking at me from the perspective of the heart/autonomic nervous system situation, so I'm not sure the right lens was used. Antibody test results came back after I returned home. I have positive SSB, but ANA (which has been positive and highly so for 20 years) came back negative. Rheumy recommended no further action at this time.

I don't have a local rheumy because the one I went to just kept saying he didn't know what was wrong aside from the fact that it is autoimmune. And, despite all the challenges, I normally maintain a pretty normal life, come across very functional, and just naturally adapt to many of the symptoms except when I get into a crisis period (like now). I stay in good shape and I am young, and I always look fine, so it's hard to get the help I need.

I haven't heard of polymositis, but will look into it. I don't get rashes often now and the biopsy they did way back when showed only hives.

Yes, a GI specialist was very involved during my period of GI bleeding. (I still have small ones from time to time.) But they had no explanation. I went through numerous colonoscopies, an endoscopy, exploratory abdominal surgery (after a test showed meckel's diverticulum - turns out there wasn't one), and a pill cam. Colonoscopy revealed large polyps, which were not associated with the bleeds and, in fact, the worst bleed occurred some time after they were removed. Endoscopy revealed hiatal hernia. surgery showed nothing, but caused a lot of complications and numerous hospitalizations - no more surgery for me. And pill cam showed nothing.

Yes, I am highly positive. That with my highly positive anti-beta II, glycoprotein I and episodes that were diagnosed as TIAs led to my diagnosis of antiphospholipid syndrome and life-long coumadin therapy.

In fairness to the Mayo doctors (who I think did a good job based on the information they had), I was accepted by them due to my heart/autonomic nervous system issues. During fainting spells, my bp was through the floor, so it made sense that these episodes were caused by these conditions. However, while I was waiting for the Mayo appointment, I had a pacemaker readjustment which I think really helped and then I had to stop my medication for the appointment. The medication keeps my heart rate lower, but this also lowers my bp. After being off the medication for a little while, my BP rebounded, so things had changed prior to testing. I would have thought that the improvement in BP would have been sufficient to stop the episodes, but since I've been home, I've continued to have problems. So Mayo really didn't have all the information. And neither did I.

I have good days and less good days. I get fatigued getting ready to go out and often become sick to my stomach when standing and doing my hair, for example. Showers exhaust me and I don't generally take hot showers. Mayo suggested I take showers only in the evening so as not to expend my morning energy too early. This might allow me to go back to commuting to work (which I'm scheduled to do next week - I've been telecommuting for the last six weeks). Sometimes I get so tired just sitting at my computer working that I have to lie down. But I generally don't sleep. My body just needs to rest, I guess.

Vitamin D has been consistently low, but I've been working on it and it just made it up into normal range. I'm not sure about the other two. will have to look into them.

Normally yes. I get it really bad when I lie on either of my sides (like when I'm reading in bed before I go to sleep). I always find myself closing one eye so I can read. One eye has perfect vision, the other has better than perfect vision. But I can close either eye and see more clearly than with both open. I don't have constant double vision. It comes and goes and tends to be worse in the evenings and when I am tired.

No. When I started having serious eye trouble at the beginning of this year, I thought I needed glasses, so I just went to an optometrist. They didn't find anything. Said I could get a prescription for the very lowest strength of reading glasses, but since the vision fluctuates so much, that doesn't make much sense to me.

I'm not sure. Will have to look through my 4 inch binder of medical records to see.

Thanks, Annie. I know I need more doctoring, but I feel at a loss as to which doctor to approach. My family dr. is basically a stop gap for the moment because my real (and awesome) doctor moved and I haven't found a good replacement yet. This guy seems willing to work with me a bit, but I don't trust him much. And he thinks my problem is high epstein-barr titers, which he wants to treat with IVIG possibly. I can't deny that they're high, but from what I read, it seems unlikely I currently have active disease. Nonetheless, I'm pursuing that, too, at the moment.

And if it's MG, or other auto-immune, IVIG might really help, so if it comes to that, I probably won't turn it down...

Anyway, thanks again for everything!

Jenny

Have you researched mast cell disorders? I only mention it because I know it can cause rashes, severe GI symptoms, and dysautonomia. I don't know much about it, what else it can cause, but there is a forum if you wanted to ask questions there. Some people are "leakers" (chronic milder symptoms) and others are "dumpers" (sudden onset of more severe symptoms.) http://mastcelldisorders.wallack.us/yabb/YaBB.p

More importantly, have you considered applying to the NIH Undiagnosed Diseases program? You have so many different things going on, with several positive test results, I think you might make a good candidate.

http://rarediseases.info.nih.gov/Und...eases/FAQ.aspx

Tatia