Hi everyone. I think I posted here several years ago. Well, I am still sick. I just got back from Mayo clinic. I had an EMG and nerve conduction test but they were negative. The neruo ran the blood test for MG and I'm waiting for those results. I have been tested for it in the past, but those tests were negative.

Here are my symptoms: I have weakness in my arms and legs. I am almost unable to pull myself up in the tub. I have trouble with stairs; by the time I get to the top I'm so weak and out of breath. I do have pain which I think confuses the doctors. I cannot walk long distances anymore and I use a wheelchair at times. I have trouble hanging up clothes, folding laundry, shampooing my hair; anything that requires repetitive movements causes my muscles to get weak and burn. Over the past six months I've started to have trouble with eating. Especially with chewy food. For example, eating a piece of pizza wears me out, my mouth gets so weak, starts to hurt and I just get plain worn out. Usually, I need to go get in bed, sometimes I end up taking a nap. All from eating! Another symptom I have is with my breathing. If I've been talking for a long time I will get short of breath, I'm not even sure if it's truly being short of breath or I'm just having trouble breathing period. If I rest, my breathing will return to normal. I have a droppy eyelid and have eye muscle weakness (although I've had the muscle weakness since birth I believe). My neuro from here at home noted that I had coarse facial features? I'm not sure what that means. But, I have noticed my whole face sagging more. I'm 48, but it happened just recently.

The neruo at Mayo seemed to think some of my problems were due to a probable case of myelitis I had six years ago. I do have neuropathy left over from that. Anyway, is there anything I can do if my tests come back negative? Are there any neuros that specialize in MG? I'm in Indiana and I'll travel if necessary. Is it even worth me trying to see one? I mean does this sound like it could possibly be MG?

Thanks for any help.

Shalynn, Well, it's really hard to say. Do you know exactly what tests they ran? Are they checking for LEMS too?

I am surprised at Mayo but not. Did they even mention or consider one of the congenital myasthenic syndromes?!!!! Dr. Engel is one of the pioneers in that field of study (at Mayo, Rochester). CMS is a group of genetic disorders that are present since birth. Some may manifest only later in life. There are literally hundreds of different mutations of CMS. A person can have either too much acetylcholine, not enough or none at all. They are NOT autoimmune diseases. It's important to define whether or not you have those since the treatments vary widely and immunosuppression will not help.

Sure, any nerve condition will eventually effect the muscles though that is more of a static weakness due to nerve destruction and not a fatigable one, as is the case in MG.

Have you had other tests like B12, Lyme disease, thyroid, mono, etc.?

Please bring up CMS to your doctor. There is a lab in Wisconsin that does CMS testing, in case you need to have a local doctor of yours order the tests "just in case" Mayo refuses to do so. They did that to me.

Good luck. I hope you can get answers soon. Oh, and B12 may not help a huge amount but it has been shown to help those with any peripheral nerve damage. Use the sublingual (under the tongue) methylcobalamin because it goes right to work in the blood stream/body and doesn't have to be converted by the liver first from cyanocobalamin into methylcobalamin.

Annie

Annie,

Thanks so much for the reply. I have never understood the need to show how many people read a post versus how many reply. lol It seems like a good way to make someone feel really small. lol

Anyway, to be honest I'm not exactly sure which tests they ran. I'm usually pretty good about taking it all in, but this time I wasn't so much. I know they at least ran the basic test. I've read about the MUSK, but I don't know if that was ordered or not.

I was at Mayo, but I just saw a general neurologist. He was very kind and seemed very smart, but I'm just not sure he understood how bad off I really am. I had really wanted to see a neurmuscular specialist. My regular neruo seems to think I have a metabolic myopathy, possibly mitochondrial disease. I had a muscle biopsy come back with type 2 fiber atrophy and a few other minor abnormalities, but nothing that pointed to any specific disease.

I've been tested for nearly all of the basics; B12, thyroid, Lyme, etc. all are normal. I did have a copper deficiency at one time and that is one test we are still waiting on. Apparently, that can cause nerve and muscle problems.

I have had a few autoimmune tests come back slightly off. ANA and CRP, but they are not high now.

Thanks for the B12 info. Right now my plan is to try and eat better, take my vitamins, and do everything else within my power to feel better.

Thanks again for your help.

Shalynn, I know, I sometimes really can't understand why people look but don't respond. I wouldn't take it personally, though, some people really are not feeling so hot but still like to read up on everyone anyway. I'm actually in that category right now. I have way too much going on but had to make some posts - I hate it when people are sick and feel all alone.

I'm so sorry you saw a generalist at Mayo. It would've been very helpful to have seen a specialist. No, muscle atrophy isn't necessarily specific to one disease but a smart neuro could put all of the clinical and testing evidence together! And if you have a mitochondrial problem, will they then have to do yet another biopsy? They are not fun to endure!

Don't underestimate the helpful nature of sublingual B12. I've read any study I could get my hands on, even books from the early 1900's. It takes time to heal but it really does help. I had a severe B12 deficiency back in 1997 - 99. The shots did not help to heal my peripheral neuropathy, only the sublingual did.

If you end up having a mitochondrial issue, CoQ10 has been proven to help. I don't have time today to get you a site but you can look that up in PubMed.

Please do get copies of ALL your test results. You'd be amazed at how much doctors don't tell you. And B12, for use as an example, can be 400 or less and you can have nerve damage. My homocysteine was high during my B12 def. and they often test that and methylmalonic acid too.

And I have to say that you can have a copper deficiency and still have a neuromuscular disorder! I think doctors sometimes forget that patients can actually have more than one thing wrong with them.

I think it sounds like your doctors are headed in the right direction. Most doctors don't know about CMS and it isn't even a thought in their head. So you may have to bring it up. Here's the best site for that.

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

Good luck! Please keep in touch. It's just a little slow right now. People here are really nice and are great at giving good advice and support.

Annie

I'm new to this as well, but BE SURE that one of your doctors tests you for Celiac Disease. I'm not saying that you don't have MG, but a gluten intolerance can cause many of the same problems or make these problems much worse. You may have both - I do!

Thanks for all of your input. I just received my test results from Mayo. I have a few questions if you don't mind. My AChR Modulating Ab were 20 with the reference range being 0-20...does this meaning anything? Could it be considered borderline? They did not do the MuSK test. My copper was ok. My B12 was 400. So, Annie, you could be right. That could be part of my problem. Teresa, I have been checked for Celiac before and it was negative. It doesn't look as if I had a single fiber EMG (I've read about them being helpful in the dx of MG) either.

I don't know where to go from here. I guess I will just have to wait until I get worse. I'm trying to exercise every day. I'm walking ten minutes twice a day. It's not much, but it's a start. I know there may be days that I cannot even do that though.

I guess I'll just hang out here for a while if you all don't mind. My symptoms are quite similar to many here. It's hard to find support when you don't know exactly what you have.

Thanks for all of your help.

Shalynn, Yeah, 400 is on the low end and you can have symptoms at that level. Have you thought about getting some sublingual (under the tongue) B12? I like the Jarrow brand these days. iherb has very good pricing - I've been getting supplements from them for 10+ years.

When my ACh antibody tests were first done, my modulating antibody was 18 (with that same range of 0 - 20). Trends in tests are often as important as absolute numbers. Mine was above normal the next year (though I didn't find out until 7 years later cause the doctor didn't tell me about it or give me the results). According to some MG experts, there is a subset of MG patients who only have the modulating antibody (3-4% according to them).

Are you on any drugs that might interfere with the results, like Flovent, Advair or other steroids?

I hope you will start taking the sublingual B12. Since it's that low, you are probably not getting enough from your food. It takes about as long as you've had a low amount to heal. Remember that the body uses up B12 depending upon how much is needed. It's a fluid situation and those blood tests are only a static view of your B12.

I hope you can get other answers soon.

Annie

Annie,

I'll check into the B12, thanks for the information. Is B12 generally well tolerated? I'm always a little hesitant to start something new after having some reactions to some meds.

So was your doctor concerned about your level of 18? I mean did he or she seem to think that meant anything? The doctor I saw didn't even bring it up. But, looking over some websites it looks as though 21 to 25 is considered to be truly borderline. I think when your sick and don't have any evidence you just look for some of these tests to have some kind of meaning. Did you have yours checked a year later because you were feeling worse or was it a routine test? It's pretty unbelievable that you weren't told about your test result!

I'm not on any kinds of meds that should affect the test results. I guess this is just one of those things that will take time. More time. Grrrr!

Thanks again for all of your help.

Shalynn

Shalynn, it certainly sounds like you have MG, but I'm not a medical professional. You can have more than one auto-immune disease at a time, and if you have one, you are more likely to develop another one - that's why I mentioned Celiac Disease.

What many doctors don't realize is that one "negative" Celiac result doesn't mean that a patient won't test positive for it later on. Also, many people are gluten SENSITIVE, yet will never test positive for CD. These people may have intestinal damage that can be causing health problems, and will benefit from a GF diet. In the CD research community, many professionals are starting to acknowledge this as a condition called Non-Celiac Gluten Sensitivity (NCGS).

Since CD/gluten sensitivity causes malabsorption, many of the nutrients that we eat in food don't get absorbed in people with those conditions. The fact that you have some nutritional deficiencies might indicate a problem with absorption. If you DO have an absorption problem, simply supplementing with vitamins won't address the underlying condition. Most people who go on a GF diet see their absorption levels go up within 1-2 years, once their intestinal lining has healed.

You may want to get tested again. If you don't want to do that, you might want to do a month-long trial of a completely GF diet. My husband didn't test positive for CD, but he had such good results on a GF diet that he realized that he is gluten-sensitive (our youngest daughter and I both have CD - mine is a dermatological manifestation of it).

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