OK, I want to thank everyone for the big response I got with my thread regarding my neuro appointment. I'm in the "determined to figure this out" mode now and I thought I'd ask a few questions.

I want to make it clear that I know know one here can give me a diagnosis, but one thing I want to know is if my symptoms sound like MG or if there's another illness I need to be considering. Mitochondrial disease and MG are the two possibilities on the table now.

Here are some of the symptoms I've had in the past. I have trouble with weakness in my limbs if I do anything reptitive or anything that requries me to have my arms held up for very long....folding laundry, washing my hair, reading the newspaper, hanging up clothes. I even have trouble holding the steering wheel while driving. I have to grasp it at the bottom because if I hold it in the middle or towards the top my arms get weak. Sometimes when I get a 32 oz drink from the convience store I can barely lift it, it seems so heavy! I have trouble writing too. My hands cramp up pretty fast.

I also can't walk for very far without getting very weak. Stairs are the worst and usually by the time I get up to the top of them I have to sit down to rest.

I have trouble chewing at times; particularly anything chewy...pizza, bagels, chewing gum, etc. At times, I have trouble swallowing. I can sometimes feel the food slowly going down my throat. It's a weird feeling. It's as if the muscles are contracting in slow motion or something. I choke at times, but it's usually on liquids not solids.

I have trouble breathing at times too. This seems to be worse if I've been talking a lot and or been exerting myself in some way. Shopping with friends really does me in because I'm walking and talking, and of course I have to breath while I'm doing these things. I have come home so weak and out of it after a shopping trip that I literally had to sleep it off. At times, my breathing feels as if I don't have the energy or muscles to make my chest do the work. It's as if I have to work at breathing. I'm not sure if that makes sense or not. I need to go reread my blog because I wrote some of these things down right after they happened.

My eyes are odd too. My eye doctor did see the ptosis and I have taken pics of it when it gets bad. It's usually in one eye, but sometimes it can be both. My biggest concern is my eye muscles. They have been weak since birth, but in the past few years they have become a lot worse. My eye muscles are weak and they don't work well together, this makes driving tricky at times. I get bad vertigo and headaches when I try to drive when I'm having a flair up. I can't explain what happens but I can feel them move and pull. I know I've had some nystagmus in the past. I think that is more of a neuro problem though and not a muscle probelm. The "bad neuro" that I just saw said I had "funky eye movements". Yes, those were his words.

I think those are my main complaints. What do you guys think? Thanks for any input.

By the way, I am back to taking Mestinon three times a day.

Shalynn, This is what I have learned with this same question. When I was diagnosed with vitamin D deficiency and aggressively got my levels up from a low of below 16 to 60 (farmers levels) I had gained so much strength I thought I was cured. It helped my breathing too. Vit D has a specific type of weakness to it in the proximal muscles, those nearest the trunk. A study done in middle east of women who had to be totally covered showed that a number of women that had become disabled, even some in wheelchairs were only severely and long term vitamin D deficient. Many doctors will test your numbers and tell you that you are fine by the exisiting tables which have already been changed to a higher level just since I was diagnosedin 2006.

Another area I have discovered is the similarities in polymyositis and MG. I am not fully fluent in this area but there are a number of similarities. I have myositis in my face and think I have it now in left thing and possibly my hands.

This info is just my expereince in my search to try to get my health back. I did a ton of research on vit D and Sjogrens suspecting I had sjogens before a doctor did. The reason I think I have Myasthenia is that I have many of the same symptoms you do but I also elements that seem to only point to MG. One example of this is the classic crisis I had in July of 08. If only I had had a tensilon test that day and the hosp hadnt been out of it. And if I had had a muscle neuro but at that point they were still waiting for the new one. Tho since this is my current neuro I suspect she would have been just as hard a sell as she is now.

My brain in done for the day. At least my breathing is some better. I put icepacks on my chest front and back which helped.

Annie59

Shalynn, Well, you know what I think. The thing is that there are only a few diseases that cause FATIGABLE muscle weakness. MG, CMS, LEMS . . . that's about it. You sound like classic MG to me. Sure, it could be one of the other ones. You would have to go to Mayo or UC Davis to be sure about CMS. They are the only two places that do the CMS blood tests or the specialized muscle biopsy (it's not the "regular" one).

Ptosis in MG can be all over the place. My right eyelid is dominant. Both eyelids droop when I'm bad. Have you ever tried the "enhanced ptosis" trick? If only one eyelid is drooping, pull up on the droopy one for about fifteen seconds. Do that in front of a mirror. Does your other eyelid go down and the droop one go up? Do they continue to go back and forth? That's classic MG.

If you can capture that on video, that will go a long way towards "proving" at least an acetylcholine problem.

Again, gather proof, like photos during controlled lighting, angle, exposure, etc. See other docs if you can.

Diagnosing someone with MG is not that hard. Why doctors make it hard is beyond me.

Annie

http://www.medscape.com/viewarticle/410859_3

http://www.ncbi.nlm.nih.gov/pubmed/2168901

http://books.google.com/books?id=RN4...ptosis&f=false

Diagnosing someone with MG is not that hard. Why doctors make it hard is beyond me.


Annie,

I think the problem lies in the fact that they are not able to differentiate between-diagnosing a clinical myasthenic picture (which is fairly easy and in most patients, even those that have a less typical course, quite clear to the extent that a first year medical student can recognize it) and verifying autoimmune MG.

And then they start confusing everything, questioning what they clearly see, questioning their patient's reliability etc.

I think my own story exemplifies it beautifully.

20 years ago, when I was a young medical student, one of my peers noticed that I had difficulty holding the book (when we studied in the evening) and left eye ptosis. she consulted a bright young neurology resident (without me knowing) and he approached me one day after school, looked at my eyes, and asked me to come with him to his office.
after a 10 minute interview (in which I admitted noticing that I was losing my strength in the evening and not able to tell my son a bed-time story for the last few months, etc.) , a quick neurological examination and a tensilon test he did on the spot, he told me that I have MG and gave me my first bottle of mestinon pills. he said that just in case he needs to do some more tests.

when my tests came back normal, he consulted an expert. even this expert agreed that I have at least ocular MG. ( I didn't know then that it is acceptable to have normal tests in ocular, but not so in generalized).

but, when I started having more significant generalized symptoms, including episodes of shortness of breath (one which prompted hospital admission by this resident), it became obvious that I could not possibly have MG.
the expert came to the hospital (after the resident gave orders for plasmapheresis and steroids to be started that evening), told them to stop all treatment (including mestinon) and when I had some improvement with bed-rest, he concluded that I have "nothing", can continue taking mestinon as placebo (if I wish to do so) and discharged me home.

every abnormal test that I had, was attributed to deconditioning, anxiety, or what ever explanation you could think of.

so, paradoxically, as my symptoms became much more severe and more clearly evident, it made them question the diagnosis, instead of the exact opposite.

and why? because in their opinion it was "impossible" to have such severe symptoms with normal ancillary tests.

you would think that this was 20 years ago, and now things have changed, but not really.

this is taken from a letter written by a world leading expert, in one of the best MG centers, only 2 years ago.

"...You have continued to have symptoms and perhaps the most striking element is the recurring episodes of profound weakness with breathing difficulties. However, I was encouraged by the fact that in the fortnight before we met you felt that there had been some improvement.

On clinical examination I was not convinced of the presence of any specific weakness. Your eye movements were normal and the eyelids did not show fatiguability. (to this a good friend of mine, who is a neurologist, asked if he himself had bilateral ptosis or was he blind?)

The neurophysiological studies were essentially within normal limits. There was one very minor abnormality on single fibre studies but that is non-specific and certainly the electrical test did not show the changes that we would normally expect to see in somebody with substantial myasthenic weakness.

I promise you, this is real. I just did "copy and paste" from his original letter.
he also wrote an e-mail to my GP at the same time, suggesting that "all involved will be positive" and explaining that it would be advisable for me to receive "emotional support", as many patients with MG will continue to have such "symptoms" even when their illness is fully under control ( such as mine obviously was).

I can promise you that if my EMG did show "the changes they would normally expect to see in somebody with substantial myasthenic weakness", the approach would have been completely different. quite likely, I would have been admitted to the ICU with the (correct) diagnosis of myasthenic crisis. what other name would you give a situation in which someone has recurring and almost continuous episodes of profound weakness with breathing difficulties, unmeasurable vital capacity, requiring respiratory support, and on examination does not have any "specific weakness" because she can hardly move and has shortness of breath (anxiety?) just being examined briefly? and has to use her respirator in the middle of the electrophysiological examination, that "did not show the changes we would normally expect to see"?

their need to have so-called "objective" evidence (eg-seeing a graph, as opposed to seeing their patient), blocks their ability to see, hear or think clearly.

This is why it is so hard for them to diagnose this illness. This is why every physician (including most neurologists that saw me, before they had results of tests) had no doubt that I had MG (despite my "unusual" symptoms and clinical course) and most neurologists doubted this diagnosis, once they received the results of their tests.

I think and hope that this is now starting to change, as there is a gradual better understanding of the complexity of this illness, and the limitations of the currently used diagnostic tests, even among the neurology community.

And I am doing what ever I can to facilitate this change.

I think that patients should be aware, that at least some neurologists will not treat them seriously regardless of the severity of their symptoms, once they have normal test results, and they have to seek someone else, who does understand the limitations of those tests.

should such patients be treated with immunomodulatory treatment with all its possible side-effects is a harder question, because some of them may have a genetic abnormality and not an autoimmune disease, and I do hope that within the next few years, the developments in the field of genetic testing will make it possible to screen such patients for possible mutations effecting the NMJ and down-stream related proteins.

like you say- it should not be that hard to diagnose a patient with clearly evident myasthenic symptoms, and figure out if he/she has a genetic problem, autoimmune disease (or possibly both) and decide within a reasonable time period regarding the optimal management approach.

it should not take 20 years, and not even 2 years...

And it most definitely should not take 42 years, as it did with me.

Very well said, Alice. If my book gets published, I hope it has some sort of positive impact as well.

If only they could clinically diagnose MG instead of psychologically diagnosing it.

Annie

I was in the position Alice describes: seronegative (antibody tests negative) and with a SFEMG that was abnormal, but not, said the neuro, abnormal enough to diagnose MG on the basis of it.

Then I went to a different neuro (my first neuro referred me) who did another SFEMG. This one came back abnormal enough to make the diagnosis clear.

There were two differences between this SFEMG and my previous ones:
1) This one was done on my face, even though I have only very mild eye involvement;
2) instead of having me slightly clench my muscles, he put electrodes on my face and used pulses of electricity to make the muscles twitch (it wasn't painful like the shocks used for a regular EMG).

So I'm wondering whether the face muscles are easier to interpret, or whether the electrode method gives clearer results. Or it could just be that the two doctors interpret the results differently. Both of them are considered experts in SFEMGs.

I am very grateful to be diagnosed. Not only am I seronegative, but my presentation is atypical (very minor eye involvement, and my worst trouble is with the muscles in my sides and hips).

Abby

Annie59~Thanks for your input. I do have a vitamin D deficiency and I'm sure it could account for some of my symptoms, but not all of them. In particular the weakness I get with exertion, repetitive movements and, in general, the relapsing nature of my illness. Although, I do have some symptoms every day, many days can go by without my other symptoms flaring up.

I've had all the autoimmune blood work done and my CPK levels and other muscle tests have been normal. I'm thinking those would rule out myositis, but, I could be wrong.

Thanks for your input. I do believe in my case, I probably have more than one thing going on. I'm sure this is what is making at least part of my case hard to diagnose.

Thanks again!

I think the fatigable weakness is what has kept me and at least some of my doctors going back to MG. I think one doctor did check me for LEMS. It's a blood test too, right? That one was negative too. I'm not sure what my next move is going to be as far as having to go too far away for answers. Is it really such a bad thing to have my PCP treat me for MG? I guess there's always the chance that it isn't MG, but I feel as if he will keep a close eye on me to look for any further developments. I'm interested in hearing what my regular neuro thinks about my response to Mestinon.


Thanks for this info. I'll try this the next time my ptosis is acting up. I do have some pics, but I didn't take them to the neuro that I saw last week. It was probably a good thing too because he probably would have just blew them off and said it was my imagination.


Of course, we know the answer to that! They want proof and lots of it!!

Thanks for your help!

Alice md, Thank you so much for this. I very much appreciate your perspective as doctor and surely too given your experience. The most important thing that came to me when I was reading your post was I need to stop blaming myself for what is happening that is exactly word for word in many ways what you speak of here.

I even realized as I spoke to my daughter this morn that my neuro who I have spoken of in poor terms DID say she needed to have me tested by my pulmo if I came in to see her when I was so much worse recently. That has NOT been ever offered before even when I asked. I was so sick last year during the summer heat and ended up in the hosp ER and neither time was any breathing test done even a simple best side NIF. I guess I need to consider this in a new lite. AS much as I was scared to go in and put myself in my neuros hands maybe I should have. I highly suspected that nomatter what the tests in pulmo said she wouldnt gleefully give me IVIG or plasma. I asked her what she would do if after the tests I was alot worse as is what happens even when I am in better shape she said she could not promise anything. I called my pulmo and related this to him and said it wasnt worth the risk. So if I did that, was sent home and went into a crisis would that be worth it? I lost so much strenght in my first crisis that I never got back with only mestinon as treatment. These are hard questions.

I know if they would do an emg on me now with my muscles warmed and me on no mestinon for more than afew hours. But the university doesnt seem like they will do more tests. I just used an ice pack on my eyes and now I am seeing better. ......

Thank you again Alice md.

Annie59

[QUOTE=alice md;725917]Diagnosing someone with MG is not that hard. Why doctors make it hard is beyond me.

Alice, is a "clinical myasthenic picture" what a doctor "sees" based on symptoms and/or exam? I'm guessing the verifying of autoimmune MG is where the blood tests come in. In other words they want proof. I'm a very analytical person and I've thought a lot about this. It seems as though there are probably yet to be discovered antibodies out there. In my mind it makes so much sense, but in their minds it seems to be hard to grasp. Not all of them, of course, but more than there should be.

I think, for them, it's easy to question their patients reliability when they don't have evidence of disease. I also think it's easier for them to do this when they don't have an established relationship with the patient. The trouble is, so many of them make it nearly impossible to develop a relationship with the patient because of the way they treat them.


This is interesting. I wonder why it is more acceptable to have normal tests in ocular MG? Is it because certain eye problems (ptosis, eye muscle weakness) are usually only seen in MG? I remember my Ophthalmologist telling me that I could still have MG even though the blood tests came back negative.

How frustrating that must have been for you! I recently read somewhere else (besides here) that most illnesses are either diagnosed by a very experienced doctor or one that has very little experience.

Ugh! Why do they do this? It seems that as a med student you would have been taken even more seriously. Obviously, that wasn't the case.

This is just heartbreaking to me! I mean, does a patient have to be in a crises before they are diagnosed? It seems like such a dangerous and even life threatening situation to be in.


Wow! Just Wow! Does this particular doctor know that you were eventually diagnosed with MG?

It sure sounds as if this doctor didn't know much about MG. It seems as though he was implying that if you had any symptoms at all while being treated that they must have been purely psychological. That's just bull!! Its as though a patient can't escape the "emotional problem" angle even after a diagnosis is made. Let's blame the victim!

It reminds me of the saying "If it walks like a duck and talks like a duck then it must be a duck." You just want to say to them "I'm so sorry that my body cannot produce the test results that you want!"


I hope things continue to change (and in a hurry ). It sounds as though you are doing what you can to move this along. Thanks from all of us out here who have ever been doubted and so desperately need help.

This is what I spoke about in my other thread and this is what I did. I knew I was so very sick and that something wasn't right. I was so desperate for answers. I really feel as if I was screaming to be heard! And every time I had a bad encounter with a doctor a little piece of me felt beaten down. It's so hard to advocate for yourself when you are so sick.

You brought up a very important point. I have wondered the same thing. It seems as though many neuros will prescribe the Mestinon to those with negative tests, but they will not go further than that. Could it be that in the cases where testing is normal that perhaps the immunomodulatory meds wouldn't help anyway? Could there be more than one form of both autoimmune and genetic MG? By the way, I always had a strong interest in medicine and I know I missed my calling. I was given up for adoption and have since met my birth parents. My birth father is a retired physician as were several other family members.


Alice, it took me a while to reply to your post in part because it moved me so much and it made me think. I certainly feel less alone and more understood while on this journey.

Thank you so very much for taking the time to share such a personal story.