Hello all,

First of all, please forgive the fact that this post is going to sound a little dark and sarcastic. That's just where I've been living for the last few weeks.

I haven't been posting much lately. The fact of the matter is that I've been on a very strange rollercoaster of a ride in the last couple of months that's been slowly tearing me apart.

To try to make a long story short: I saw an uber-specialist in early March on the other side of the country. The understanding was that I would hear results back in two weeks. One month went by, nothing. A bit of wrangling and what I got was that I shouldn't expect a phone call or a report, but that the neuro would send a copy of a letter he would write to my local neuro. Well of course it's been almost two months and I haven't heard a thing and neither has my local neuro.

The specialist, let's call him Dr. X, a la Rach (hi Rach!), told me when I saw them that he suspected possible motor neuron disease which, while it didn't make any sense, totally freaked me out. So you can see that I've been in a bleak, dark h*** waiting for results.

Fortunately, me being me I went through the back door and requested my medical records which finally arrived yesterday. When I read through them I was astonished.

Before I start, let me just say that there was no indication, as far as I can tell, that I have motor neuron disease. Which is good because I don't particularly care to die that way.

So, first of all, Dr. X had sent off a blood sample to the Mayo and it came back negative for antibodies. I can't say that I'm terribly surprised with that because that's happened before. So far I've had three tests at the Mayo - two of which were positive (slightly) and this one which was negative. I've also had two negative tests from the ARUP labs. One was a big zero while the other showed a slight level of antibodies but not enough to put it outside of the normal range.

Here's the part that stunned me though: the sfemg studies were abnormal. That has never, ever happened to me. The guy in CA only found one jitter. That was the guy who told me to go see a plastic surgeon for my drooping face. (Ya thanks. Moron). I've been completely dismissed because I have never shown anything on any emg test ever. This report shows abnormalities in both the mean level and the percent of pairings with jitter in the frontalis muscle and the percent of pairings (just passing the cutoff point) in the ocularis. The crazy thing is that he wasn't even testing the side which shows the weakness (he said it was too weak to test, go figure). I have to say, even though this guy is unresponsive as heck, he's a wizard with doing the test.

So, I'm in shock. I'm guessing that this means that mg has been confirmed, despite the negative antibody test. At least for the facial weakness anyway. After all that pushing and trying and finally giving up. I would have been delighted 6 months ago, but now I think I have another, more horrible, disease which may have set off the mg. I don't want to put it into a public forum since it may affect other family members and I'm paranoid and have developed a bleak view of the medical profession and insurance companies. But suffice it to say, the disease sucks.

And here I sit. Dangling out in the lonely, undiagnosed, dark abyss that some of us feel stuck in. I'm pretty sure I know what it means, but how strange to have to find this out on my own. The good, wonderful news is that I've found a fabulous neuro locally. She's smart, really super stellar smart, and took it upon herself to review all of my records (that's a lot of reading, trust me), is compassionate, respectful and feels confident she can figure this all out. She is a gem. She even calls me back. Heck, her assistant returns my calls ON THE SAME DAY. Even though I'm looking down the barrel of these terrifying diseases I actually giggled, yes giggled, when she called me to talk over some tests. I had to explain that I couldn't believe she actually called me personally. Anyway, I've faxed over the records to her this afternoon. So I don't feel entirely alone for the first time in 8 years.

Okay, first of all I just want to post this because it's so striking to me that my results have been all over the place. I want people who are desperately seeking a diagnosis to know that. One test doesn't mean diddly squat. Certainly one opinion is not worth a turkey's butt in a vegetarian restaurant. And since I've gotten started I'll say another thing: I have gone to five states searching for help and have seen about 50 doctors, bless their greedy, incompetent little hearts. I can honestly say that every single thing of significance that has been discovered about my health I have discovered on my own. So please, don't give up. Push as hard as you can, for as long as you can until you're either dead or broke (don't know which will happen to me first, we'll see ). Okay, I'm done ranting.

And of course I have some questions:

What's the deal with the disappearing antibodies? Do you think that means that it's really another, undiscovered antibody that's wreaking the havoc? Because even when the tests come back positive the titers are very low, abnormal but low.

Is it possible to have not occular mg exactly but mg that just makes my eyebrow droop and sometimes the entire side of my face fall?

Does anyone else have confirmed mg but no (measurable) limb weakness?

What about respiratory problems that don't show up on pulmonary tests but make me feel like I'm going to die? Anyone else? What's that all about? I don't know if that's due to mg or this other, heinous disease. I'm just going to have to wait for the test results (another 2 months. ugh).

Jitter on the sfemg is specific to mg, right? Is that right? Is there anything else it might indicate?

Apparently I have jitter but no blocking on the sfemg. What is blocking?

It's been an entire day since I first read the report and I think it's finally sinking in. That's how much of a shock it was to me. And the funny, truly funny part is that despite the fact that I have gone from being a sunny, optimistic person who grinned like an idiot and thought everyone was so amazingly wonderful to a worn down, pessimistic nub of a thing - I still underestimated the deep, deeply, deepish depths of callousness that doctors are capable of. I mean, hello, we're talking about a fatal disease when untreated. And I am not treated!!!! What in the heck does it take to get some medical attention??? Didn't I rate at least a 60 second phone call? I mean really, people try harder to save whales. Nothing against whales it's just that I'm a little jealous.

Ah well, and so it goes . . .

Ally

Ally, Well, I don't even know what to say. It's such a mixed bag of good and bad. I'm glad? I'm sorry? I hope you get answers soon? All of the above!

Yes, muscles can be too weak to test (this is from books and from MG experts). It has to do with, for example, muscles that twitch due to being too weak, which will interfere with the signal. You know how a person shouldn't have caffeine before an EMG - same effect. To me, it sounds like this doctor knew exactly what he was doing. The fact that you had a positive SFEMG is good, in that you had a positive test AND YOU ARE NOT CRAZY!!! Which we knew anyway.

The SFEMG is not specific to MG. I'm not even going to speculate about what else it could or couldn't be - that's up to the uber-doctor. Fatigable weakness is what the increased jitter is showing, so it's likely it's MG. The fact that your frontalis muscle was the most weak means that it is not isolated to your ocular muscles.

Blocking on a SFEMG is not what you want to see! That means there is NO signal, not normal and not abnormal. For example, you could have 20 pairs and 4 could be blocked. There would be a "flat line" instead of a regular waveform. They usually give a percentage of blocking based on that. There isn't enough juice getting to the muscle for them to even read the muscle fiber. So that's actually a good thing.

The antibody tests are not always positive. Shocker. My uber-neuro said that he can see a patient who is weak as a kitten and have a negative SFEMG and can see someone who looks okay but has a very abnormal one. Same with antibodies. But you have had positive antibodies. Doesn't really matter how high. That's why labs have "ranges" for positive. If you are in that positive range, it's considered POSITIVE! And it may be that the number of circulating antibodies is low because they aren't circulating in your blood! What if there are some AChR antibodies that simply stay in the neuromuscular junction and don't come out to play for that blood test?

I know of a brilliant neuro/MG expert on the East coast who is simply too busy to even eat. That's no excuse not to get back to a patient waiting for results but it also might mean that he is consulting with someone else first. That would be a good thing. Some doctors are not good at being prompt but it's always a mixed bag with anyone of any profession. At least this guy is smart and good at what he does. You do deserve, according to law, to have answers in a timely manner, however.

What pulmonary tests have you had done? The full package or just simple spirometry? Have you had MIP and MEP done?

I'm surprised no one has suggested a muscle biopsy yet, or have they?

So, if one side was too weak to test, does that mean that your arms and limbs are clinically weak?

Ally, you know how I feel on the topic of bad doctors. It upset me so much that I've written an entire book on doctoring (yes, almost done). It's one thing to doubt a disease, it's quite another to doubt a patient. None of us want to be sick (well, maybe a few people do but I haven't met any). I'm glad you are nearing the point of answers and, hopefully, treatments. I hope it's not a dire diagnosis. MND would be very difficult for anyone to get their heads around.

I'm glad you now have a neuro who is in your corner. That helps a lot. I have to say that it will take a long time to get over your doctoring experiences. I hope you will seek out a smart psychologist or psychiatrist because they can really help. But I honestly believe, at least for myself, that the betrayals and the traumas I have experienced have really scarred me too. I even have trouble trusting the doctors who I like and are good.

I hope you get answers soon. In the meantime, do something super wonderful for yourself. Or a bunch of stuff. Make yourself feel completely pampered if you can. My heart really goes out to you for all you've been through. No one deserves it. And let's all hope that Karma will take care of the rest.


Annie

I loved the whale comment. I know, recycle, reuse, save the planet but to heck with us patients.

Dear Ally,

I haven't been writing on this forum for a long time, for many different reasons. but, I do surf here every now and then, and seeing your post made me feel that I just have to write back. (hope I won't regret it).

and yes, bad experiences with doctors can make it very hard for you to trust any physician again. I even had a hard time trusting a physician I know very well and see in the mirror on a daily basis.

fortunately, there were others- like her patients, colleagues and research associates that trusted her very much, so it helped me gradually reagain my trust in her as well.

and also one young and relatively inexperienced neurologist, who said- you know your illness best.

he may be much less experienced and knowledgable then all the world leading experts I have met, but understands me and my illness more then any of them ever did before.

as to your question regarding the antibodies. Angela Vincent recently gave a lecture (in the euromyasthenia conference) about the fact that in patients with a low titer of AchR abs. there are also MuSK antibodies that can be detected in a more sensitive assay. so, your clinical picture, and all the rest, could easily go with that.

as to the SFEMG. you already know my oppinion about the accuracy of this test. and forgive me for saying this, but saying that the muscles are too weak to test, goes against all the common and excepted understanding of this test. in fact, it should be done in the weakest muscle that you can find.

I have had positive and negative and equivocal tests, and I think none of them is worth the paper they are printed on. there is no doubt in my mind (based on many facts and evidence) that my illness (and probably that of others as well) is not due to abnormal trasmission of the electrical signal (which is what this test measures), but to a problem in the traslation of this signal into a normal muscle contraction.

I am not a neuromuscular expert, and do not know what is the illness you are concerned about, but I think it is not a good idea to be worried about something that you don't know yet. and in my oppinion it is still most likely that you do have myasthenia and with proper treatment can probably do very well. I too was given a myriad of diagnoses, include ALS, by physicians that didn't understand and just threw what they had in their head, without realizing the consequences of that.

I am glad that you have found a neurologist you can trust. and just let her figure it out. and then what ever it is, I am sure you will be able to face it.

it is always easier to fight a dragon when you are not blind folded and don't have to fight windmills at the same time.

I know it is a very hard time for you right now, but keep on fighting to get all the answers. call that doctor X. he is not god. he may have given his secratary the letter to type and she forgot. you never know. two months is an unreasonably long time. and there are really good physicians out there. not all are like the ones you have encountered. don't assume that he doesn't care.

you remind me of a marathon runner I once saw, who fell down on the 40th kilometer. he sat there and kept on saying- I am a failure, I am a failure. I encouraged him to get up and walk, leaning on his wife, to the finish line.

you now have to do the same. you are almost there. so don't give up on yourself now. don't fall into despair, after you have been fighting this nuinsance for such a long time. get as much help as you can, from whoever you can.

and we are all here to help.

best,

alice.

hey ally; sorry to hear about your bad experiences.

for the moment just a simple question; while visting all these doctors; did anyone performed tensilon / prostigmine test? or did you at least got some mestinon to try?

best;
tom

ps: how many SFEMGs did you performed during all these years?

Hey Ally,

Wow, you certainly have been put through the mill and then some. I'm so sorry you have had to go through all this for so long.

I am so happy you have found a wonderful caring neuro who is willing to sort this all out for you. It looks as though you have enough evidence, if you will, to finally get a diagnoses of MG so you can start treatment. I only hope the tests for this other disease come back negative. Waiting for results is so stressful, so I hope you'll know soon. I'll be keeping good thoughts.

Hang in there and know we are all here for you. Take care.

Big Hugs,
Pat

Ally,

I am sorry you have to go through this. I wish doctors were more supportive.

Very smart to ask for your medical records, we should all do this.

It sounds like you do have MG. My MG symptoms started like what you describe, with eye problems and droopy eyelides ...but my symptoms progressed from there to include just about every possible MG symptom except trouble breathing.

About the antibody tests:
-My first test came back "Positive" for the Bab (binding antibodies) Test and "Normal" for the NAb (neutralizing antibodies) Test.

-My more recent blood samples (after MG diagnosis) show "Borderline" for ACHr Antibody and "Negative" for MuSK Antibody.

My doctor said, after getting the recent blood test done, that all my symptoms are "consistant with MG" even though my recent blood work doesn't confirm that I have MG, also since the Mestinon was helping that he would continue the treatment. I sort of felt like he was taking away my diagnosis and was left a little confused with the "consistant with MG" comment.

Anyway, I think my test results are similar to yours, with low values. But if you have the antibodies even in low amounts, you have the antibodies.

I want to tell you that my doctor saw me when I only had eye trouble and droopy eyelids but no limb weakness. He diagnosed me based on observation and the blood and nerve tests. The thing that makes me mad is that he got the test results but waited until my next doctors appointment to start me on Mestinon. During that month of waiting, my MG progressed and could have been prevented if he would have just called! I am still mad about this, but I am still thankful to get a relatively fast diagnosis. So, yes, I HAD confirmed MG without limb weakness, even though now I do have limb weakness

I had "jitter" on the nerve test, I still really don't understand what it means.

Will your new doctor start you on Mestinon? Even if is just as a trial? I recommend asking about it since it sounds like all your test results and symptoms were the same as mine when I was diagnosed.

Hopefully you only have MG and once it is treated, maybe you will find that you don't have this other disease.

I know for me, that time waiting for a diagnosis was awful (and I only had to wait about 1 month! I feel so bad for those who wait even a day longer! ). I was waiting and my MG progressed to the point where I thought I was dying. I was losing weight because I couldn't eat and I could barely get out of bed on the rare occasion, I couldn't shower or brush my hair or teeth, and I could barely talk and I coudn't focus my eyes on anything. I truly thought I was near death, and maybe I was I don't know. I had decided that if it was my time to die then I was going to just die and not go to the emergency room - I was so depressed and weak. Please understand that I wasn't suicidal, I just didn't see the point in living if that is what it was going to be like. Maybe I would have felt differently if my Neuro had talked to me in a positive way, but he didn't give me any hope at all initially...he made me think I had a mystery disease. I am usually such a positive person, I don't know why I gave up so easily, it is not usually in me to give up even when I am losing, I think it was all the mind fog that I had at the time (and still have on occasion). I still remember that time as though it was a dream, I don't have a clear memory of all that time I spent in bed.

I typed the above long paragraph because I wanted to say don't give up hope and don't stop fighting. I am glad you found a better Neuro.

It still amazes me that this little Mestinon pill can take away the worst of those symptoms. Every day I am thankful for Mestinon as silly as that sounds. If I were religous I would say a prayer every time I take a pill, and I suppose in my own way I do give a prayer of thanks it is just not to any particular god. As it is, I am thankful for each day of my life.

Please push for a diagnosis or at least a trial on Mestinon just in case it might help. Of course, I am not a doctor, but my opinion is that doctors should trial people on Mestinon if MG is a possibility (of course after the proper tests are done since Mestinon can effect test results).

I hope any of what I typed helps you. I feel for you and everyone else who is undiagnosed. I wish I could help more.

briefly on SFEMG: ( from: Advances in the Diagnosis of Neuromuscular Junction Disorders; Matthew N. Meriggioli, MD Donald B. Sanders, MD )