my "diagnosis": is it firmer now?
 

Yep, here I am revisiting the big D issue again. Do I really have MG?

I was diagnosed, more or less, a year ago. I don't think the neurologist was willing to actually use the word "diagnosis." What he said was that myasthenia is numbers one through four on the list of possibilities. That was evidently good enough for my regular neurologist, who has been treating me for MG (with Imuran, Mestinon, and IVIg) ever since. Other tests ruled out everything else anyone could think of.

The reasons I was so hard to diagnose were: I'm seronegative; my first two SFEMGs were inconclusive (third was clearly abnormal); I don't have significant eye involvement; and my most severe, most troublesome symptom at first was weakness in my side muscles that made me tilt from side to side, from the waist up, as I walked. In the beginning, this looked like a balance problem or ataxia.

Now, a year later, I think I'm a bit more "typical." The side-to-side tilting is pretty much gone. Now I tend to fall forward from the waist up if anything upsets my stride. My legs also get weak so that I sometimes slowly collapse into a squatting position--slowly, so that it looks like I'm doing it on purpose. The weakness in my arms bothers me every day. Weakness in my neck, which makes it very tiring to hold up my head, comes and goes, a few weeks at a time. I had weakness in my fingers for about a month, but that's much improved now, too. I had trouble swallowing back in February, but not since then.

I am pretty convinced I have myasthenia. What else could it be? Are there any other similar diseases in which the muscle weakness shifts around like this? I haven't had that side-to-side tilting for months now. I no longer find myself arching my back to stop from falling backwards, either. I'm pretty strong in the morning, except on a really bad day, and weak in the late afternoons and evenings. I zip up and down the stairs in the beginning of the day, but sometimes at night my husband has to carry/drag me up to bed. I can pick up heavy things--I just can't hold them for long. My eyes are still good. Mestinon doesn't help me at all, as far as I can tell, but I can take a lot of it without much effect besides a bit of twitching. I've been on Imuran for nine months with no response. I've had three courses of IVIg: the first helped a bit, the second helped tremendously, and the third didn't help much.

So, what do you guys think? If you were me, would you be confident you had MG? Can anyone think of any other disease that behaves this way?

By the way, I have seven siblings, and seven children, and 29 nieces and nephews on my side of the family, and none of them has anything neurological going on. I'm 45, and have had symptoms, looking back, for almost three years.

Abby

The 2 things that stick out to me are the 3rd single fiber and you can tolerate Mestinon. I'm like you the Imuran and Cellcept haven't done a thing. As for Mestinon I miss my 3pm all the time and can't tell a thing. IVIG is the only thing I have had that seems to help me.
Hang in there
Mike

Abby, do you WANT it to be something else? OR are you worried that it IS something else -- if so, WHAT?

I guess you could look up disorders that respond to IVIG -- and then cross-reference them with "abnormal" SFEMGs and see what, if anything, shows up.

I think that as women, we second guess ourselves about a lot of "stuff". Are we pretty enough, thin enough, smart enough, interesting enough, good enough wives and mothers, good enough employees, and on and on. Is this worrying about your diagnosis somehow an extension of that type of insecurity?

I'm not trying to "psycho-analyze" you here or anything. I just hate for you to keep on worrying about it. Worry, as you know, isn't "our friend".

All I know FOR SURE is this. Your doctor says you have MG via an SFEMG. Your symptoms "fit" (and are becoming more "typical" with each passing day). At least one of the treatments has given you some improvement. So, to ME, that sounds like you HAVE MG.

Hoping that my post has not come across as harsh or insensitive -- but, as reassuring. As I've said before, sometimes I'm not so good with "words".

Jana, you're funny! Nope, I like my MG and wouldn't trade it for any other chronic neuromuscular disease I can think of. It's just that I don't want to destroy my immune system if it turns out I don't have an autoimmune disease after all.

It's my doctors who make me wonder. The neurologist who diagnosed me, or did something in that direction, sounded sure. But every once and a while my treating neuro rereads the letter the diagnosing neuro sent him and makes noises about what a puzzle I am. Evidently the diagnosing neuro was more certain out-loud than he was on paper. (I know...I should get copies of everything...good advice that I haven't followed.)

Also, one of the neurologists told me that a positive SFEMG doesn't necessarily mean MG, but I didn't get a clear answer on what else it could be.

Anyway, I made an informed decision and decided there was enough evidence to justify the treatment I chose. I'm not thinking of dropping the treatment. But I'm wondering whether the shift in my symptoms means I can put some of the residual doubt to rest.

Abby

THANK YOU for not taking offense!! And I appreciate you thinking I'm funny!! I've often been accused of NOT having a sense of humor. :D (Want to be able to SING, WRITE, AND tell JOKES!!!)

Anywho, here is the link you want:

http://neuromuscular.wustl.edu/mtime/mgdx.html

Scroll down to this part (under SFEMG):

Now, I am SURE you don't have ALS (IVIG doesn't work and your muscle weakesses fluctuate). Hasn't polymyositis also been ruled out? I dunno, I guess it is possible that you have LEMS. Has it been ruled out? It IS in the "MG" family.

Thanks, that's just the info I was looking for. I did test negative for LEMS once, for what that's worth. I also haven't developed any cancers, in three years since I've had symptoms, so that seems very unlikely. As for ALS, on the whole, I would say I haven't gotten worse for a year and a half. I also have no muscle twitching or foot drop (I have had the sole of my foot scratched by many a doctor, I can tell you that!). After my next-to-last IVIg, I had six weeks with no symptoms at all. So, I am really confident that I don't have ALS either.

I asked my neuro about polymyositis once, and he said no, but I can't remember why.

The specter of congenital myasthenia never quite goes away for us seronegatives. But would be very unusual not to have symptoms until I was 43, and with such a large family of healthy people, it sure seems unlikely. I couldn't help noticing that one of my nephews seems to have a drooping eyelid in many of his photos (thanks, FaceBook!) but I am just barely wise enough not to say anything to my sister-in-law--unless of course she starts mentioning that he is having neurological symptoms! She mentions all of his medical stuff (thanks again, FaceBook) so I'm sure I'd hear.

Anyway, thanks so much for talking about this with me, Jana, and for the link. I feel a lot better.

Abby

There is a lady in town who has polymyositis. She came to one of our garage sales. She also sees my MG guy. She showed me her legs -- YIKES!!! They were like WASTED away -- almost like a 100 year old person's -- and she is only like mid 50's. And her muscles "wobble" -- I've never seen anything like it. She also talked about having fevers all the time. NOT a "pretty" disease. AND she walked with a cane -- LEANED on a cane, I should say. She said she would be in a wheelchair within a year or two -- PERMANENTLY. :(

We have photos of my sister with a drooping eyelid, too. She has had the bloodwork -- negative. But, as Mike says, I think it is just a matter of time.

I'm glad that me talking with you makes you feel better. It is nice for ME to feel USEFUL!! My house is a TOTAL wreck -- LOL!! As a type-A, this is one thing I've had trouble getting adjusted to.............but, there ARE some things we just HAVE to "let go", right?!?!! I can still "counsel" sometimes -- if/when I make sense (LOL) -- but, I can't clean a bathtub for ANYTHING!!

In my "heart", I really think that EVENTUALLY, you will test positive OR that you have an antibody that they just haven't developed a test for, YET!

I've been reading up on polymyositis a bit. I don't have any pain, and no fevers. I see that after a while, polymyositis causes muscle wasting, as you say, and after three years, I don't notice any of that. Also, my first lab slip had those muscle enzyme tests--all normal. I also see that polymyositis is treated with immunosuppressants and IVIg, so even if that's what I have, I'm probably already being treated for it.

Yes, I sometimes think that I must have an antibody they don't know about yet. I know that the MuSK antibody has only been discovered fairly recently. Complicated things, those neuromuscular junctions!

My house is a mess, too, especially since my two college-age kids finished their Christmas break! They did all the cooking and dishes for the month they were home. Also, the week I had my IVIg, my daughter homeschooled her three little brothers for me. How lucky am I?

Cleaning brings on my MG symptoms. But at a certain point, the mess causes me so much stress that I'm better off cleaning. I do realize that not everyone has the luxury of choosing--if, for example, I was likely to set off a crisis by cleaning, then I'd just have to deal with the mess. I do have a sweet husband who is willing to help me, but he is already doing so much that I hate to ask him to do anything else.

Abby

I was thinking about this. My doctor never said I was diagnosed with MG. He told me my symptoms were consistant with MG and to try Mestinon. The Mestinon helped wonderfully and I am now more stable with less ups and downs. My neuro agrees that I am stable and the severe double vision is gone so I should keep taking Mestinon.

Do I have MG? I'm pretty sure I do but for me what really matters is the treatments. Are the MG treatments helpings? For me they are, although I am far from normal at least I am no longer bedridden most of the time, for that I am thankful. Mestinon does help me but I need less of it all the time. Sometimes I wonder if I am slowly healing from something else with MG-like symptoms. Maybe I am just getting used to being weak all the time and think I am getting better, lol. At least I'm not getting worse.

Do you have MG? I think so, because your symptoms seem similar to other people here including me even though your symptoms aren't typical. What is MG? It seems to me that MG is caused by various things, much that is not well understood, and we are all grouped together because generally the treatments are the same for all of us. I think you fit into the MG family just as much as I do.

I wish more was known about the subcategories of MG. I wish more was known about MG in general. I wish more was understood about the creation of antibodies against the self. I wonder if there is a way to help our body stop making antibodies against us besides immunosupressants, there must be a way to strengthen the part of the immune system that makes sure we aren't attacking ourself. I've considered studying the immune system myself in detail, so I can understand better how it works. It seems to me that no one in the medical system is studying this in detail. I wish I could be of help somehow...

I think it is good to be researching other options and to keep questioning. Maybe one of us will help directly or indirectly discover new treatments or ways to prevent getting MG. I am glad you are asking questions. :)

Jana, so OK, I'm searching google for Polymyositis Myasthenia Gravis, and I come across a link to this forum entitled "Polymyositis--for Abby" from you. Looks like we've been over this before. You suggested it, I asked my doctor, he said no, because my EMG and CK and aldolase levels were normal. Evidently, I'm going round in circles.

Well, evidently it would be unusual to have polymyositis with normal CK and aldolase levels, but no more unusual than having MG without eye symptoms, and that doesn't respond to Mestinon.

I guess I'll ask the doctor about it again when I see him in a few weeks.

Thanks again.

Abby

You (and it seems like also your neurologist) have to come to terms with the fact that your illness just didn't read the book.
He should give you treatments that help and stop treatments that don't. Without you or him having to repeatedly question the diagnosis of your illness.
Unless, there is very clear and unequivocal evidence that it is something else.

Medicine is not an exact science and the diagnostic process should not become a Procrustean bed that leads to more harm than good.

Yes, there are anecdotal cases in which someone received treatment for an illness he/she didn't have. But, there are numerous more cases in which treatment was withheld because not all diagnostic criteria were met.

Yes, every treatment has the potential to cause harm, but this is true for patients that receive it with the right indication, just as it is true for those that receive it by mistake. In the vast majority of patients who had significant harm from treatment, it was clearly indicated.

There are mistakes in medicine, both regarding a specific patient and also systematic errors that led to wrong treatment for many years and for numerous patients. As we learn more, we realize that what we did before was wrong. But, it was right for the knowledge medicine had then. And overall modern medicine has saved much more lives than it caused damage. And we constantly aim to do better.

Life is not an insurance company. There are certain risks we always take-when we go in a car, can we know for sure that the road will be clear and no lunatic will come from the other side without any warning? when we go in a plane, can we know for sure that it is not going to crash?

It would be ridiculous to stay at home and never go out, because of the fear that we may have a car accident, but it would be as ridiculous to see a car driving in the wrong lane and ignore it, because it is against our plans that it will be there.

Physicians and patients constantly do those mistakes, because of the wrong assumption that medicine is an exact science and we can always know and plan. We don't take the road unless we know (or think we know) for sure that it is safe, and we don't move out of it, when we see someone driving in the opposite direction, because we know (or think we know) that it is impossible for him to be there.

Many cases in which serious harm was caused by commonly used medications is because this was not realized on time.
When a patient is given experimental treatment we document everything (even if he falls on a banana pill and breaks his leg) as possibly related.
When a patient is given a known medication, we tend to attribute only known side-effects to that medication.

Your clinical symptoms (in my opinion) fit myasthenia even before you had an official diagnosis. your diagnostic tests seem to support this diagnosis at least to some extent. No one has an alternative or more reasonable diagnosis. (it's always possible that this is all caused by some aliens from outer space and if you could only find their spaceship and ask them to give you the anti-dote you would be well, but I think this is much less likely than the much more boring possibility that you have plain myasthenia).

The sad thing, in my opinion, is that much more is known from research in other fields, and also from going back to the original clinical descriptions of MG by people like Friedrich Jolly (who gave it this ridiculous latin-greek hybrid name), Osserman and Mary Walker. But this data and knowledge is for some obscure reason, not assimilated into the understanding of MG.

Our understanding of the immune system has advanced tremendously over the last few decades, still it is a very complex system. We constantly learn about sub-types of cells, new roles of various proteins, new ways to modulate it. And we are really at the edge of the iceberg. There are numerous physicians and scientists around the world that are studying the immune system. There are quite a few leading journals that are dedicated to immunology or at least have a large section dedicated to it.

In fact, the first treatment for MG-ephedrine, was discovered by an MG patient who was also a physician. She received it for another indication and noticed significant improvement in her MG symptoms while taking it.

Thanks, Alice. My neurologist was refusing to treat me for myasthenia until I got the opinion from the other neurologist he sent me to, the one I traveled to see. When that doctor wrote to my regular doctor, my regular doctor set aside all doubt, and proceeded as if the case were completely settled. He never brings up any doubt now.

I have thought from the beginning that this is a sensible way to proceed. There are risks to treating me, but for goodness' sake, there are risks to not treating me, too! Very real and very severe risks. I do get that. There isn't a risk-free choice.

I also keep in mind that even if this isn't myasthenia, it's still likely to be an autoimmune disease. They run in my family. I have Graves'. Imuran could well be a reasonable treatment even if my diagnosis is wrong.

Now, all that said--you know how myasthenia usually starts at the top (eyes) and moves downward? Mine started in the trunk and moved up and down. It started in my sides, abdomen, lower back, and then moved to my thighs, neck, and upper arms. Now it's pretty much spread through my body. When I'm especially weak, I tend to choke and my fingers get weak--like it only hits the extremities when it's really bad. On a very good day, my only noticeable symptom might be a bit of stumbling as I lose my balance.

Thanks for your encouragement, Alice. It means a lot.

I spend a lot of time reading about and thinking about my disease. This isn't as unhealthy as it sounds--I am fascinated by medical things, and I love reading about them. It doesn't make me depressed. It just makes me feel less at sea.

Abby

ROFL!! May I say that this PROVES I have a memory problem?!?!?! Didn't even have an inkling we had previously discussed this. :D

Anywho, I really, REALLY, NOW, don't think you have it. I think you would KNOW. Think about "old lady" arms -- you know how they "hang down" and "jiggle" -- flap to and fro in the wind? Your legs would be loose like that, I'm pretty sure. NO muscle mass at all -- just mush.

You got me laughing this morning -- and the sun is shining here -- FINALLY!! Gonna be a GREAT DAY, I think!!

Alice, now YOU have me laughing even HARDER!!!

Jana, there's a nonsense poem by Lewis Carroll (it's from the Through the Looking Glass, the sequel to Alice in Wonderland) that has one line that (ironically) sticks in my head: "And his answer trickled through my head, like water through a sieve."

http://homepages.tcp.co.uk/~nicholson/alice.html

A lot of stuff just trickles through my sieve-brain. Sometimes I say to my kids, "I'm sorry, could you tell me again? Your answer trickled through my head like water through a sieve." I don't think this is anything new--I've been like that all my life (and let me tell you, my teenage boys seem to have a terrible case of sieve-brain sometimes!).

I had totally forgotten our conversation, too, so it was nice to not only find it on google, but find it neatly addressed to me!

If I had polymyositis, it may have been hard to diagnose in the beginning. But it wouldn't be so hard to diagnose now, right? After three years, there would probably be, like you say, noticeable changes in my muscles. So that's reassuring, too.

As for the strange Greek-Latin name, I sort of appreciate it, because when you tell people you have "myasthenia gravis," they take in the "gravis" part and figure that whatever it is, it sure sounds serious. I've also heard it called "Goldflam Disease," which is sort of interesting but evidently didn't stick.

Abby

Abby, I upped my Topamax to 125 mg this morning after THREE killer migraines in the past two weeks (these weather fronts are "killing" me) -- so, I'm probably gonna have an even MORE MAJOR case of "sieve-brain"!! LOVED that quote!! IF I had ever heard it..............I have forgotten!! (LOL) Of course THESE days, I am forgetting tasks as I travel from one room to another in my house. :eek:

Hmmmmmmm........Goldflam Disease. Gonna have to look that one up.

Ain't life fun?!?!?!?

Off topic: the name
 

The first doctor who ever told me about MG was from South America somewhere, with a very thick accent. I had a hard time understanding common English words and had never heard of MG. Hubby: "So how'd it go?" Me: "I don't know, I think he's checking to see if I have gravitas"