Please HELP me!
 

I am going to give your smart noggins something to think about. I have seen multiple Neuro's and 3 out of 5 have confirmed dx of MG--Seronegative with 2 positive EMG's, 1 negative (1/2013)--Today Johns Hopkins Neuro stated, he does not think I have it, but doesn't know what I have.
I started 2009 with eye twitching, loss of peripheral vision, and needed glasses to help. (astigmatism on eye dr exam) then 3 months later, I had severe neck weakness and strain to causes headaches, and a COMPLEX Migraine where speech was effected. CT was fine...then 2 months later, shortness of breath, chest pressure when exercise or steps, Cardiologist sent me to get a ct of my chest and my Thymus was enlarged to 6cm...so they removed it.
All this and EMG gave me the MG dx. After this, I stayed on Mestinon and Imuran. I went in for a knee replacement, and the day after surgery, I stopped swallowing and was intubated. I have excessive saliva production while having MG symptoms/crisis. Then 4 months later, after small exercise again, experienced facial drooping, severe body twitching, loss of bowels, vomiting, and become paralyzed for days, and get IVIG and steroids in the ICU. I can't move my muscles to get my hands legs or body off the bed for 4 days, gradually coming back. When home, very weak for 2-3 weeks, still having double vision, muscle twitching, speech problems. After another surgical procedure, the same symptoms, and was intubated due to respiratory muscles being weak, under 1 liter of volume. This time, after intubation, I had to be on a NG tube b/c not being able to swallow for 4 days afterward. There was now 5 crisis', 3 intubations--the neuro doc states "crisis' are usual, but I don't believe that she has MG."
What do you believe could be the culprit? I need to get life back...I have symptoms of shaking muscles daily...

wow, you have been through the ringer!!! So sorry to hear about all of that!!! I don't have a firm diagnosis, but take IVIG every 2-3 weeks, hopefully someone else can give you more insight... I do however have the muscle twitching/ shaking thing... I feel like I have a cell phone vibrating at times, it's really strange. Also after surgeries i have had difficulties and almost had to get intubated with my c section epidural.. couldnt' move my tongue or face or anything after it for a long time..

Have they checked for some of the periodic paralysis? (Hypokalemic/hyperkalmeic periodic paralysis)? Not sure if they can get so severe that it would result in intubation... Lambert eaton can also be affected by anesthesia.. and my last thought would be charcot marie tooth - it is an anesthesia affected disorder - but it may be that it can have a relationship with hyperthermia, not sure if it causes paralysis.. just a few thoughts..

Good luck! keep us updated!

fasciculations are uncontrolled muscle twitching in muscles I have used that day--I can move the arms if the twitching starts, but the muscles won't stop twitching until I rest them for a while. The paralysis is not chemical based, more inability to move with NO MUSCLE STRENGTH. The ability slowly comes, and with a great deal of strength needed that 5 days ago, I didn't have to have. I have 3 children, husband, and a home to care for so weakness to not get out of bed is not allowed. The muscles slowly get stronger, and I do loose some muscle, and small PT helps. The ANESTHESTIC in my last procedure, followed MG guidelines for no paralytics, wasn't intubated, just a device to keep the airway open in my throat. ONE NEURO stated that my immune system is noticing the incision and there is a problem when it has to go into action...I also have had a immune IgA count to show an Autoimmune disease exists...because of this marker, now another piece to the puzzle.

How much Mestinon are you taking? This is a long shot, but when you talk about excess salivation, loss of bowels, and vomiting, I think about Mestinon overdose. I've read that a cholinergic crisis can be hard to distinguish from a myasthenic crisis.

I'm sorry you've been through such horrors, and still without a firm answer! I can hardly imagine.

Abby

Good thinking!!
 

I was on 3 of Mestinon a day, then one Neurologist increased to 5 a day. Then, I went into having severe muscle twitching where an MG doctor stated it was Mestinon sickness, and decreased the dose. Now, the very bad twitching stopped, but, with overuse of the muscles, I still have muscle weakness twitching. A definite difference. The increased salivation is where the salivary glands let go, and those are controlled usually. Right when my body is going into a crisis, I have the vomiting, loss of bowels, and then can't use my body muscles to move anymore...downhill quickly...
REALLY GOOD THOUGHTS!! THIS IS THE DIALOG NEEDED TO FIGURE THIS CASE OUT!! Thank you very much!!

and the Thymus gland has grown back now too~
 

After my Thymectomy, the gland was enlarged not a thymoma, and then I had an MG crisis with intubation, and the neuro dr's stated to have my Thymus gland rescanned, and it had started to grow back. It is still in there, growing very slowly, but back,,,,if that helps with my "case"

Again, this is a long shot, but I'm just checking. When you say "three a day" or "five a day," you mean spread out, right? You're not taking the pills all at once?

Once my husband was walking backwards down a sidewalk talking to me, and I assumed he knew the telephone pole was there. He didn't. Ever since then, I try not to assume stuff.

Abby

Abby,
I just laughed sooo hard...thank you for making me smile...one pill 3 times a day

Hey there...I get the cell phone thing too. In my stomach, back, feet, all over.

What exactly doesn't fit?

To me you sound like MuSK MG. Were you tested for that?

The response to mestinon is unpredictable in MuSK.

Some patients respond to it like AchR MG.

Others have increased weakness+fasciculations.

Others have both, but in a very hectic manner. The same dose at the same time of the day can lead to significant improvement, severe worsening or no response.
You can have fasiculations with improved muscle strength or with severe weakness.

The reason for that is (probably) that MuSK is a very complex protein. The antibodies cause: presynaptic abnormalities (less release of achetyl-choline like LEMS), post-synaptic abnormalities and also to complicate things even more- decreased activity of the acetyl-choline esterase (which is a mestinon like effect).

The balance between those effects can change, with activity and probably other factors. and thus the response to mestinon will change accordingly.
(those are my explanations).

Severe worsening with steroids may also fit. ( MuSK MG tend to have more myopathic response to steroids).

Were you ever treated with PLEX? IVIG is less effective in MuSK.

Also, did anyone suggest that you receive non-invasive respiratory support after having so many crises.

Karen, Have you had the MuSK antibody test, as Alice suggested?

The one thing that doesn't fit MG is loss of peripheral vision. Did they give a reason as to why that is happening? Was it a temporary thing or is it still there?

Ptosis, especially long-standing ptosis, can CAUSE astigmatism. That's what caused mine. I've had MG since birth or shortly thereafter.

You don't have fatigable weakness so badly that you have to be intubated from nothing going on! ;)

What do you mean by "immune IgA count" and that it revealed something. Are you talking about the serum IgA blood test? Was yours normal. I'm not certain what you're saying - can you clarify that? Did they run the IgE, IgM, IgG too?

"Your immune system is noticing the incision." Wow. Really? That's not very scientific. So your immune system, "sensing" that there had been surgery, is causing your muscles to weaken to the point of paralysis and intubation. Do they think patients really buy that BS? :eek:

MG, either ACh, MuSK or any other of the unidentified antibody MG's, is quite simple. 1. Do an activity 2. Muscles get weaker to varying degrees. 3. Rest (and drugs) make muscles stronger (relatively).

No other disease is quite like MG, except LEMS (Lambert-Eaton Myasthenic Syndrome) and CMS (Congenital Myasthenic Syndromes, which are genetic and not autoimmune). They all involve variable muscle strength either worsened or improved with activity. LEMS can initially improve with activity but then get dramatically worse. Some CMS are like MG in that you don't have enough ACh (acetylcholine). Other CMS's are where there is too much.

Did the start of your symptoms in 2009 coincide with pregnancy at all? Just curious.

Did they do a pathology of your thymus? The fact that it's growing back so soon is interesting.

Even if you follow the protocols for MG during surgery, the fact is that the drugs given during any surgery have the potential to make it worse. You can take all of the precautions in the world and still get worse. Were you given morphine or any other pain killers? Morphine can tank an MGers breathing.

Sometimes with Mestinon, it's not only the space in between taking it but the dose amount. Do you have a good neuro to talk all of this over with? Some people do better on a smaller dose but with more frequency. It all depends! Don't make any changes without talking to your prescribing neurologist first!! You are obviously not doing well and any changes could make you worse, like Abby mentioned about cholinergic crisis being an issue too.

Myasthenic crisis: Not enough acetylcholine getting to the muscles.
Cholinergic crisis: Too much acetylcholine getting to the muscles due to too much Mestinon.

Keep talking! For that Johns Hopkins doctor to so arrogantly say this isn't MG is nonsense. And, BTW, an EMG or SFEMG in MG can be positive and then negative and then positive . . . Oy. A good MG expert knows that!

Take it easy. And even though you're a Mom, there are ways to reduce any impact on your MG. Or "incision disease." :cool:

:hug:
Annie

Did you totally lose peripheral vision or your peripheral vision is just not clear. I know that if I do not look directly head on at something that my vision is blurry or double due to weak eye muscles, which of course progresses as the day goes on.

I just took my first mestinon pill and the first improvement I noticed is how much better I can see and focus.


kathie

Great, here is more info to help..
 

THANK YOU ALICE MD-FIRST OF ALL, I HAVE BEEN HOPING TO HEAR FROM YOU WITH SEEING THE GREAT UNDERSTANDING YOU HAVE IN OTHER THREADS IN THIS FORUM:
OK so MuSk testing has been done, and was neg. The IFE tests show increased IgG and decreased IgA; normal CMP, copper, SPEP, thyroid panel, ANA, and Mayo panel.
I have been offered PLEX 4 times, but IVIG was running. I have very bad vascular access and need a port placement, but with my hx of respiratory and throat failure, I can't risk another surgery.
I have been weaned down off Mestinon to 1/2 tablet 3 times a day, and I could hardly move without assistance, and was in bed for days. It was hard to see, breathe, eat, and walk.
I also wanted to add that I have not been able to regulate my temperature when it is an indoor warm environment. I will sweat profusely. I think it is from my muscles working harder, like running a marathon, but not able to cool down. Afterwards, I have to go sleep, so I can stop my muscles shaking so badly, to function. Sleep will help the symptoms tremendously.
I have not needed respiratory help at home non-invasively, but they are stopping my IVIG now, so I might be needing something sooner.
I am on a steroid taper now, and the meds give me energy, which helps me to function. I really hope this added information will help with figuring out what I need to do or say to have a clear DX and be able to stop symptoms everyday, from ruining my life, and families lives.

Great info!!! answers
 

Annie, THE EYE SYMPTOMS --PERIPRIAL VISION WHILE DRIVING WAS GREY, AND COULD NOT SEE, BOTH RIGHT OR LEFT, YES STARTED WHEN I WAS 6 MONTHS PREGNANT WITH 3RD CHILD. THE OB STATED IT WAS HORMONES AND not to get glasses, because it would get better...but my vision was blurry. That has come back now. Also with this pregnancy, I was having severe uterine contractions like preterm labor, but no cervix dilation, was that part of myasthenia? I didn't tell the dr's about the contractions...
In my answer to Alice MD, there was a increased IgG and decrease in IgA. what does that confirm?.. an Autoimmune disease?
The pathology to the Thymus was not thymoma, thymic hyperplasia and the hospital stated myasthenic based thymic tissue
In regards to the SFEMG, and EMG's being positive and negative, at different times makes me feel a little better. I love medicine and know that tests can vary very much...I also took some of the EMG print outs, and from what I have researched, the decreases in Amp and Area % are shown just like an Abnormal MG EMG results.?.?.?
the Neuro's at Hopkins aren't MG specialist

peripheral vision when driving was grey, then the TV was blurry, and then after looking so hard and squinting, my eyes would hurt.
My vision was getting worse, and you know the test at the eye dr's, where the little black dot floats around, well, that is what I could NOT follow at all.
If I get really weak, Feeling "sick" I can't get my eyes to see and focus at ALL. Vision is gone, because my eyes won't stay straight.

Go to another neuro. This is outrageous. You need a neuromuscular specialist. I'd also get tested for Lyme disease and all the coinfections as fast as you can.

Karen, There are a lot of reasons for an increase or decrease in the immunoglobulins. I can't believe they didn't do the subclasses for IgG when they found an increase to see if there is a particular subclass that is increased.

These are basic but helpful to some degree. You need an immunologist or a good internist to explain it.

http://kidshealth.org/parent/system/...globulins.html

http://labtestsonline.org/understand...ulins/tab/test

http://emedicine.medscape.com/article/136580-overview

http://www.mayomedicallaboratories.c...erpretive/8160

I really hope that they didn't miss a thymoma. Since it's still growing, that could be a concern.

Johns Hopkins has some of the best MG experts around, allegedly. ;) Why they haven't referred you on to one is bewildering.

You need an EXPERT, like Tracy said. You are sick, need help and some more answers about your health. I am so sorry you are dealing with this. A good doctor makes all the difference in the world. It takes more than expertise to be a good doctor. It takes them being a good human being too.

:grouphug:
Annie

great reading, and I did have a reaction to a dose of IVIG in the hospital in January. Hives, itching, redness near the vein site, up the vein at the elbow and redness in the same side of my neck...probably because of the IgA antibodies in the IGG??? I am envious of all of you that were able to have a clear blood test/diagnosis to get the best treatments.
I am hoping that Hopkins can refer me along like you all are doing, ;-)
Thank you for all the information! It makes me really happy that I found this forum and get some new thoughts for my predicament.

Karen, Did I miss something here? You have IgA antibodies? When did they figure that out? Before you had IVIG?

I really think you need an immunologist to consult with.

My last crisis symptoms was 12/31/12, and hospitalized 5 days. Johns Hopkins had done the IFE panel to show changed in IgG and IgA but this wasn't emphasized to be a problem.I had not had an issue with ivig prior to this hospitalization. Reading the websites provided in this forum, the site states the IgA increase can cause anaphylaxis with IGG. I agree with seeing the Immunologist. I am very frustrated that I am thinking and scheduling soooo many Dr appts and trying to get a handle on my symptoms and diagnosis and have had zero help from any doors in ANY way. This confuses them and have told me to go somewhere more advanced because this is a complex case. I really hope to get the facts straight with help, and be able to figure this out. It seems I am the only one who cares!

Oh my gosh!! I found a puzzle piece
 

reading over the IgA decrease meaning IgA deficiency and it gave me symptoms of Primary immunodeficiency disease. These are symptoms I have had all my life, and all 3 children also have them too. I have severe joint damage and arthritis in both knees and carpal tunnel in both wrists. My son is a severe asthmatic and allergic, my middle daughter has gluten allergy, and all three have eczema. I have had chronic sinusitis infections, and bronchitis. I am very excited to see a reason that you showed me Annie!

Karen, Well, I showed you a "possibility" not a reason. ;) I'm not a doctor, just thinking out loud to see if it helps. If it does, great. But you need a doctor to figure all of this out. And, obviously, your kids need to go too! There are some immunologists who see both adults and kids.

Was your child tested for celiac disease (CD)? CD is not an allergy but an autoimmune response where antibodies are created after eating gluten (wheat, barley, rye, oats, etc.).

I am sorry your doctors are not doing everything they can for you. You have more time to think about all of this than they do. No, that does NOT excuse them. They have years of schooling and experience.

You are not doing well right now. You need to rest as much as possible. Your kids need you to stick around! You've had some pretty close calls. Do you have someone who can help you find a good immunologist? They can do all sorts of tests, like those for CD and can figure out the underlying autoimmune issues.

I hope you'll feel better soon. Hang in there.

Annie

Thank you for your help, and I understand more because of it! :)
She was tested by the Pediatrician for a Gluten sensitivity, so I will check the CD--she is anemic also like me, which all makes sense now.
I have researched some immunologists, who are in DC, a little ways for me but I will go when I get records from all my blood tests.

What was your IGA level? I'm asking because often we can have labs that are a little off yet it is insignificant. These levels can be off a little without signifying anything.

The reactions you had to IVIG sound pretty normal. I've had anaphylaxis to IVIG many many times, and it was hard to breathe, my chest tightened up, I was panting, massive redness all over face and neck, heart palpitations, blood pressure shot up, hoarse voice, hot, burning face and neck, etc. I have to get mine at a Cancer Center because of my anaphylactic reactions. I am not IGA deficient, it is fairly common to get reactions like you described. Being IGA deficient and getting the wrong brand of IVIG can kill you, not cause a minor reaction.

Also I know a lot about Primary Immune Deficiency Disease. My 17 year old son has had it his whole life. He was just cleared of it when his IGG just spiked up to 1040 after being in the low 600's the last several years.

He was super sick his whole life, missed a ton of school, constantly had infections, and had 22 ear infections by age 2 to give you an example. To be diagnosed with PIDD or CVID your IGG has to be really low, like 300 or 400. You have to have infections that do not clear up, and can become life threatening or require hospitalization. It's basically like being a mini version of a Bubble Boy. Cody could never fight anything off, he caught everything going around, his sinuses were completely impacted on MRI, he could not breathe through his nose for years. Even with all that, he was only borderline, and he was practically homebound. (he had a lot more symptoms.) The diagnosis of PIDD is only given to people who are basically severely ill and have a very low IGG/IGA, not borderline or even somewhat low, and are constantly sick and in the hospital unable to fight off infections.

We've been dealing with immunologists for years with Cody. Trust me, having asthma/eczema/gluten allergy is NOT PIDD. If you have it, you know it because you can't function and you are constantly sick with infections that won't clear up.

Hi Karen,

Medicine is not an exact science, but is a very logical science. Lab tests should be interpreted in the context of the clinical presentation. Abnormal test results may be a variant of the normal (by definition 5% of the population will be out of range for any given test) and by the same token normal test results do not exclude a clinical diagnosis.

One of my (excellent) teachers years ago, told me (when I was very puzzled by the lab results of a patient)-why do you expect a malignant cell to know which proteins it has to express on its cell surface?

You need a good physician who will meticulously take a full history, examine you, go over all your test results, possibly order more tests and put it all together.
The information we can get on the internet is not always accurate or comprehensive enough, but with that being said, much of what you describe (sadly, including the indecisiveness of your neurologists in the face of severe/life threatening symptoms fits MuSK MG).
The commonly used antibody tests may not be sensitive enough to detect all patients. Other tests are not yet commercially available but possibly those could be ordered by your clinicians.

http://onlinelibrary.wiley.com/doi/1...789.x/abstract

You also have to find the way to better live with your illness,
Take into account that a diagnosis does not necessarily mean cure or even remission.
It is only a tool for your physician to better direct the management of your illness.
Part of MG management, in my opinion, is adequate supportive care. You can receive that with or without a definite diagnosis.

Tracy, I wasn't saying that she or her son had PIDD. She has a complex health status right now and a second opinion from an immunologist is a prudent thing to do. And there are varying degrees of immunodeficiences, as you know. And so many reasons for them!

Karen, Travel right now could be deleterious for you. It's more important that you take care of your MG and get it definitively diagnosed!

I'm sure there is an MG expert you can see in the area first and then maybe ask them if they know a good immunologist (instead of traveling to DC!). Only you can decide what's best for you. Seeing the right specialist is important. I wouldn't want a dentist to do a pap smear or a gynecologist to treat an arrhythmia or a cardiologist to do an EMG or a neurologist to clean my teeth!

Can't anyone refer you on to Dr. Drachman, at the very least?! ;) He's the leading MG expert at Johns Hopkins.

Take care,
Annie

Annie I didn't even see that you suggested PIDD; I was honestly just responding to her own post about her children's medical issues and PIDD. :winky: