To Stellatum
 

Abby, I've been doing some thinking and have some questions for you! ;) Guys, if you could keep this on topic and for Abby only, that would be appreciated!

Okay, what's your ancestry? Is it Northern European?

You don't have ptosis, right? Has a neuro-ophthalmologist evaluated you?

Have you had the testing for LEMS?

You didn't have a muscle biopsy, right?

They've checked your CPK, right?

How do you feel after you eat turkey? :wink:

Have you ever been on Albuterol or a similar inhaler? Did it ever make a difference in symptoms if you were?

What about tonic water? Do you ever drink that - which you shouldn't if you have MG - and, if so, any effects?

What happens when you have anesthetics, like dental or for surgery?

Mestinon doesn't work for you. You get worse when you've been still for awhile. You don't seem to get as sick as others do (with colds, etc.) even though you're on an immunosuppressant. Although, that could simply mean that the flu isn't mild but your body does not "show" you that it's bad. Kind of like how Pred masks infections but a person may have a very high sed rate. You might want to try checking that in the future.

I'm wondering if you don't indeed have a CMS, like a Rapsyn or Agrin mutation. Possibly Dok-7.

http://neuromuscular.wustl.edu/synmg.html

As you know, there is pre-synaptic, synaptic and post-synaptic issues that can occur in all of these "syndromes," among other things. I wonder if your muscles have a post-synaptic problem. The fact that you get worse after you've been "still" for awhile is intriguing.

Have you ever had protein powder shakes and do they have any effect on you at all?

http://archinte.jamanetwork.com/arti...ticleid=552396

http://www.macalester.edu/psychology..._receptor.html

And to make you nuts and show you how many things can go wrong to produce neuromuscular diseases . . .

http://tools.autworks.hms.harvard.ed...id=2197&page=3

I forgot what else runs in your family. Was it ataxia? Epilepsy?

http://neuromuscular.wustl.edu/mitosyn.html

I really think there is a puzzle here that needs solving. Sure, you could have "atypical" MG, whatever that means since we're all different. But you don't seem to fit the classic set of variables. And you might have more than one thing going on.

I wanted to at least have a conversation with you about "what ifs." Sure, your Graves could be kicking up but what if that's not it? Maybe you do have just MG and you think you're superwoman, do more and are surprised when you get worse. :cool:

Do you think the Imuran has helped? Do you have any "end points" that can "prove" that? It's more easy when someone has ptosis to prove if a medication is working. Is your breathing better on it?

What got me thinking about all of this was a stupid article on the flu and discussions about Trypsin and plasminogen. :thud: My brain works kind of oddly.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2446977/

Okay, enough. This might be too much gobbledygook but I don't think you can rule things out before you look at all of your symptoms, history, test results, influence of food/drugs/other diseases and pattern of weakness. Though you've already done a lot of that!

Anyone else have any brilliant ideas for Abby?

:hug:
Annie

Oh, boy, Annie is taking me on! Thank you, Annie. I know that your energy is very limited.

I am going to pursue all of your links, but first I'm going to answer your questions.

My ancestry is (as far as I know) 100% Eastern European Jewish. Now, before you wonder if I might possibly have late-onset Tay Sachs, I should mention that I have seven siblings, none of whom has symptoms like mine. Plus, my weakness is definitely fluctuating.

I don't have ptosis. My left eyelid is a little closer to my pupil than my right, but that never changes. The neuro-ophthalmologist who diagnosed me thought I had Cogan's lid twitch, and I can actually see it. If I open both eyes wide, my left eyelid goes higher than my right, and immediately settles down lower than my right.

LEMS tested once: negative. No muscle biopsy. CPK tested way back in the beginning, normal. I never eat turkey (vegetarian!). The last time I had novacaine at the dentist it was fine. I haven't tried albuterol, but I tried primatene tablets for a while, without noticing a difference. I avoid tonic water. I only drink alcohol in bed, except last night when I had a beer in a restaurant and hit the floor on the way out, which was really, really embarrassing :) .

I have never had breathing problems, even when I'm at my weakest. I actually have had a bit of double vision, but only two episodes, both lasting only an hour or two, in the whole 3.5 years I've had MG symptoms.

OK, the Imuran. There is pretty good evidence it's working. The doctor started me on 100mg, which did nothing, then 150. When he finally upped it to 200, I got much better after about a month. That lasted about four months, and then I drifted downwards again. Then he upped it to 250, and again after a month on that dose, I got noticeably better--but only for about six weeks this time, and I drifted down again.

I have had three experiences of IVIG: the first was five days, and I think it did nothing, or very little--I was stronger for about two weeks, but that could have been the normal ups and downs. The second time, I got six weeks of pretty good strength. The third time we tried it for only three days instead of five, and I had no response that I noticed.

I will follow up on your links and see what I can figure out. I am 46 years old and the second of eight children. My older sister is 47, and my youngest brother is 21. My parents are 70 and 69, and have no symptoms similar to mine. My mother's sister, age 65, recently had an episode of weakness and double vision which they thought was a stroke but later decided wasn't, and I asked her to pursue the possibility of a CMS, and haven't heard from her. I will follow up on that.

Family history: Graves disease and atopic dermatitis. My son and I both had temporal lobe seizures (no loss of consciousness) briefly at age 21 for a few months and then they went away. My daughter has Alagille syndrome (heart and liver defects), but she seems to be a de novo mutation. Three of my kids are being followed by a cardiologist for possible Marfan syndrome. There seems to be a lot of undiagnosed Asperger's in the family (ahem...obsessive information-gathering is a good thing, right?).

My thyroid seems to have settled down. I am wondering if the flu in the house (I have no symptoms still) put my immune system into overdrive, and it briefly launched an attack on my thyroid and then settled down again. I'm no longer twitching and trembling.

I had no weird neurological symptoms until three years ago, but my overwhelming memory of childhood is being tired. I slogged my way home from school every day. I spent hours in bed reading every day in the summer. I was always bad at sports.

OK, I'm going to see what I can find in your links. Thanks again for thinking through this with me. If my disease is not autoimmune, I need to know that so I can get off the Imuran!

ABby

Abby,
Do you mind sharing what your symptoms are?

Sure, I am endlessly fascinated by my illness :)

At any given time, my arms and legs feel tired and heavy, and my neck gets tired quickly. I appear normal, but it takes extra effort to do anything. In the late afternoon and late evening, my legs get weak, and while walking, I tend to collapse into a squatting position. Sometimes the top half of me falls forward, and I sort of bow at the waist. If I trip the slightest bit, or anything throws me off balance, I can't catch myself.

All of this is variable from day to day and week to week, and if I exert myself one day (like going to a department store), I'm weaker for the next few days.

For a long time I used to sway back and forth to the left and right, from the waist up, as I walked, but not any more.

I get "spells" of weakness that last half an hour to an hour in which my legs are too weak to hold me up at all. Sometimes I can crawl, but sometimes my arms are also too weak for that.

That's about all. I've had a few episodes of double vision and no ptosis. Sometimes the weakness is especially concentrated in my neck, and I have to slump back in my chair and rest my head. A week ago it was in my shoulders, and I could hardly make a shrugging motion. I used to lose my balance a lot, but that was when the weakness was mostly in my waist and sides, I think. I had trouble with the muscle in my soft palette for a while, but no more. I sometimes find it tiring to chew, but not usually. I never have breathing trouble, and my speech is normal.

Abby

Abby, There are so many CMS's and some that are in COMBO with MG. There's Congenital MG with acquired MG developing in the 4th decade, from the WUSTL website. That is treated with immuno's.

Do you know what your HLA's are? I had mine done when I was tested to see if I was a kidney match for my Dad. You can do too much testing to figure something out but I really have to wonder if you have a CMS and MG. I've wondered about that myself. I've had symptoms since shortly after birth. I have MG antibodies but did not get worse until after my B12 deficiency.

Have you tracked what your potassium and sodium intake are throughout the day? What about calcium? Do you get a consistent "dosing" of that through the day? If there is any kind of channelopathy, swings in intake could potentially effect that. The next time you have a sudden weakness episode, try eating a few potato chips. ;) I know that sounds silly but it's not.

How is your BP?

Does the sudden weakness correspond at all with the taking of other meds? Or is it more random?

I'm still thinking about all of this. ;)

Annie,

I take HCTZ to prevent migraines, which I know depletes potassium. By blood pressure is consistently excellent. My potassium tested low-normal, probably because of the diuretic, so I take a potassium pill in the morning, and usually have something potassium-rich with lunch. I just can't for the life of me connect my episodes with anything I eat or don't eat, even though the time of day is so consistent. Calcium...yes, I typically have some with each meal. How about this: I'll take that potassium pill in the late afternoon and see if it makes me weaker or stronger. So hard to tell, since my symptoms come in waves by the week as well as by the day.

I'm trying to get my aunt to really get on this. She is better, but still having balance trouble and double vision, and they're sure it's not a stroke. She tested negative twice for MG (but then, so did I). I'm trying to get her to talk to them about CMS.

If this is a CMS that my aunt and I both have, then certainly my mother would have it, too--and at age 69, she has no symptoms. Neither do my seven siblings. Oh! And neither did my mother's parents, though they both lived into their late 80's.

I have a neuro appointment coming up. I will mention my aunt to him. Maybe he'll send me to Mayo. The nice thing about having three kids in college is that there's always plenty of money for things like trips to Mayo: I just take it out of their tuition :wink: .

Now, listen: if there's every something I can do for you, let me know! I proofread, edit, format, and photoshop.

Abby

Abby my Mom didn't show symptoms till about 80. We took her to several Neuros. One even told her to exercise. She got a DX when she was admitted for minor procedure.
Mike

Annie, you are a brilliant woman and I would defer to you on almost anything, except your potato chip idea. For the last several years, I have been following message boards for many different conditions, but most closely the channelopathies.

Potato chips are a potential trigger for all forms of periodic paralysis. The potassium in the potatoes is a trigger for potassium-sensitive types. The carbohydrate load in the potatoes is a trigger for the potassium-responsive types. (Orange juice has this same dilemma) The sodium in the chips is also a potential trigger for potassium-responsive types.

Tatia

Who finally got a trial of Diamox WITH prescription potassium last week, Abby I needed to update you but I have a new computer and a new email.

Thanks, Abby. That's very kind of you to offer. :hug: You know, I'm not a doctor and lately feel like I'm only an expert at resting but I think doctoring is all about how you think and creatively trying to figure things out. Most doctors HATE when patients do that but I frankly don't care.

The reason I brought up potato chips is not due to the potassium but how potassium AND sodium work together in the body. A person shouldn't have too much sodium but if someone has a certain channelopathy, an imbalance of them might cause a problem. If . . . might . . . geez, it's all a crap shoot given that you don't know for 100% sure what's up.

My MG is better when I have a consistent dose of potassium, calcium and sodium throughout the day. But that's me, guys, so don't do anything unless you speak to doctors first! ;)

Some CMS's are dominant and some are recessive. There are over 100 mutations and probably some they haven't discovered yet. CMS's are very common in Northern Europeans, which is why I asked about ancestry. And there are certain genetic mutations the "experts" would test for given that history.

http://ghr.nlm.nih.gov/handbook/inhe...itancepatterns

A regular muscle biopsy wouldn't show anything if it was a CMS. They do a more dangerous, specialized muscle biopsy for a CMS but it's not often necessary due to the blood tests.

I hate to tell you but Mayo in Rochester, MN is "the" place if you think you have a CMS. Dr. Engel doesn't see patients anymore (maybe one or two) but he was the one who did most of the early work on CMS. But I also hate to tell you that they don't see patients unless another neuro is fairly convinced that's what is going on. Are CMS's highly guarded secrets or something?!! Don't they want us to know what's going on with our bodies?

I don't know if Mayo would run CMS blood tests on someone if serum was sent there. Your neuro could find out.

I would suspect one of the limb girdle CMS's. But that doesn't mean you can't have a CMS AND MG, right Mike? ;)

Thanks for sharing your information. It'll probably help others too. I'm going to do some more digging for a couple of days.

Take a look at the articles within this one. Some of the limb-girdles don't involve the bulbar/facial muscles.

http://ghr.nlm.nih.gov/condition/lim...ular-dystrophy

Tatia, You snuck in there before I could post! I wasn't exactly offering up potato chips as a dietary choice or a treatment! ;) Only as a way to see if it helps. There aren't a lot of foods that have both potassium and sodium. It might be rather disgusting to put a little salt on a banana but you could do it. And, of course, organic potato chips (non-GMO) with low sodium are better.

Every disease state is different and foods do indeed have an effect on many of them. It's not only the type of food but the amount, the time it's eaten, with what other food - and drugs - and so many other variables. Makes me dizzy. :cool: Potatoes are also an interesting choice due to the fact that they are nightshades. They do basically the same thing as Mestinon - to a far less degree. But since they are a food, they may have a better effect. Drugs are "unnatural" whereas food is natural. Though that doesn't mean foods can't harm you.

I hope you're doing well, Tatia. Thanks for challenging me. I doubt, BTW, that I'm brilliant. I think it's a matter of tenacity.

I think I missed something. Are potato chips good or bad?

I LOVE potato chips. They are one of the most wonderful foods on the planet. Somebody please say they are good.