less diagnosed than ever...
 

So, I saw the mg specialist today, finally. He says he doesn't think I have myasthenia gravis, because my main symptom (I have the others, but they're mild) is trunk muscle weakness. However, he can't think of any other diagnosis that is more likely than mg.

So, we're doing this:
1) retest my AChR antibodies, because he knows those fluctuate (yay!!!)
2) If those are still negative, repeat the SFEMG, this time on muscles closer to the trunk (the one on my forearm was "borderline")
3) test me for Lambert-Eaton Syndrome (nope, not a smoker...)

I am very happy with this game-plan. When he suggested #1, above, he won my confidence. Also, I was the one who suggested Lambert-Eaton, because I know it tends to affect the proximal muscles especially. He said, over the course of the next 15 minutes, "No, it really doesn't look like LEMS...well, I suppose it could be LEMS...you know, LEMS is a possibility...we should definitely test you for LEMS...etc. So, I found that hopeful, too.

Well, emotionally this is a bit of a blow (my first neuro was quite sure it was mg--just sending me for a second opinion before starting immunosuppressants, as he should). On the other hand, I am doing quite well, because I'm learning to manage the disease. I know what I can handle and what I can't. I know when to use the canes and when to use the rollator. And I'm still grateful that I can see and chew and swallow, and that I have no pain. My life is different, but I know that compared to a lot of people, I have it good.

So, thanks for reading. I know a lot of you have been through, or are going through, the same long road to diagnosis. I wish you all peace and speedy answers.

Abby

Oh, Abby, I sooooo hope I am WRONG, but something about what you said "rang a bell". Check this link for the late-onset form:

http://rarediseases.about.com/od/lys...es/a/pompe.htm

Jana,

Thanks. This new doctor's assessment started me off on a whole new round of googling, and I did come across Pompe disease--but the other info I found defined "late onset" as "early adulthood," and I'm 44...but your link just says "adulthood." So I'll look into it, and ask my new doctor about it.

Well, I hope you're wrong, too, but I appreciate your taking the trouble to pass on the info! Thanks.

Abby

Jana,

As I do more reading about metabolic disorders, I realize that the doctor I saw yesterday was thinking about them. He asked me, for example, if I ever pee funny colors (well, doctor, there was that time my husband grew too many beets in the garden and no one else would eat them...). I think that if all the mg tests I'm going to have still come back negative, that will be the next thing to look into. So, he's on it.

Meanwhile, I have seven siblings, so that's a comfort--if there was some recessive gene at work here, you'd think one or two of them would be sick, and they're not. On the other hand, I'm the second oldest, so who knows.

I will try to remember to live in the moment a little more today...

Abby

Abby, sometimes I feel like I grumble, moan, and whine about MG -- but, compared to MANY of the other possible explanations for our symptoms............relatively speaking, MG can be considered a "walk in the park".

You are in my thoughts and prayers.

jana

We posted at almost the same time!! I'm so glad you have a good doc.

Thanks, Jana, for the thoughts and prayers!

I have been thinking for a long time about gratitude, and its proper place in life. I get some mileage out of "it could be a lot worse!"--actually, a lot of mileage. For instance, I am grateful for having a disease that lets me (I hope) keep control over my mind and my bladder. I am very grateful for having a disease that so far, at least, spares me from chronic pain. I am grateful that my mg, if that's what I have, isn't anywhere as bad as a lot of people's.

On the other hand, I sort of think that this train of thought is one that should be selectively boarded. There are times when I need to acknowledge that suffering is suffering. After all, it could always be worse. If I had some cancer that was going to kill me in six months, I'd be better off than someone who had a cancer that was going to kill him tomorrow. But in a case like that case, the "It could always be worse" train isn't going to take me very far.

Just thinking out loud here--trying, as always, to find some sort of balance. Trying to be realistic in acknowledging the bad things, without giving them more power over me than they already have. And then sometimes I need a break from _that_ train of thought--the constant battle to find balance all the time--so it's time to go watch a stupid movie or something.

Thanks again, Jana.

Abby

I think that "Roseanne Roseannadanna" said it perfectly -- "its always something! Abby, you have a good head on your shoulders and your feet planted firmly on the ground. Whatever this turns out to be, I have faith that you will be ok -- physically AND emotionally.:hug:

God allows us to have "pity parties" -- when MINE get too long, He lets me SEE somebody else's struggle and reminds me that I don't have it so bad. It IS all about the "balance" you talk about.

BTW, I agree -- stupid movies are good for turning the brain "off"!!

Jana,

I got a good laugh out of "a good head on your shoulders and your feet planted firmly on the ground." Metaphorically, it may be true. Literally, that's exactly what I don't have! You know, with weak neck muscles and bad balance and all...

Anyway, I've been reading some more about Pompe and related genetic metabolic disorders, and I am relieved to see that in such diseases, the CK serum is extremely elevated. I've had mine test normal. I'm sure my neuro will consider such possibilities if we still can't get find the mg antibodies, but for now my money's still on mg. It's the only disease out there that's marked by fatiguability, right? And I sure do have that.

Well! I took my kids to the zoo today. My rollator is perfect for that. Walk to the next animal, sit and look at it, walk to the next, sit for a while...a perfect system for frequent rests! My rollator works so well for me that I always think I don't need it until I try to walk without it and find myself lurching from side to side. I'm tired, but we had a great day.

Abby

hahahahaha, Abby -- good one!! And, I WAS speaking figuratively -- not literally. :D

I am happy that it looks like you don't have Pompes or any other genetic disorders. You may just have MG with an odd presentation -- like you suspect. The fatiguability does seem to be the defining factor. My first symptom was not being able to whistle -- and it took almost TWO YEARS before anyone could figure out that MG was the cause. They (the docs) seem to ALWAYS want to look for a drooping eyelid or double vision. :rolleyes:

If your doc had said hip girdle weakness rather than trunk muscle weakness I would have IMMEDIATELY said MG. And, to be honest, from the way you describe your walking, it SOUNDS like hip girdle weakness. Just a simple difference in semantics makes a difference in potential diagnosis.

I do that lurching thing when I go to our local Wal-mart. Something about the air quality (I think the return vent is near the pesticides) -- within 5 minutes of stepping foot inside the door, I am dragging my left foot and that makes me stagger like a DRUNK!

I'm gonna keep my eyes open for a rollator!