Hello everyone,

I don't quite know where to start. I want to keep this brief...ha!

A year ago my elderly father died and I found out he had MG. He probably didn't start having symptoms until his mid to late 70's. He never had eye involvement. It affected his throat and he ended up with a g-tube after already dropping to 130 lbs. He was 6'1" so it was crazy they let him get so skinny. Anyway he was misdiagnosed or undiagnosed for about 15 years. The MG was never treated and he died from it.

So- back to me- I was diagnosed with an autoimmune type of arthritis called Ankylosing Spondilitis. I think I spelled that wrong. I've been taking TNF -biologic immunospressants. They have helped with the pain but not the fatigue.

A year ago I started having double vision in the early morning. Only when I had to get up at 7 to get my daughter off to school. Only on the days when I slept poorly and was dead tired and felt worse than when I went to bed.

I also noticed my arms felt much weaker. Where the previous summer I had power washed for 2 hours at a stretch, I could know only do 30 minutes and my arms trembled so bad when I was done I had to use both hands to hold the glass still enough to drink.

Because of these symptoms I was referred to a neuro-muscular neurologist. It was around the time I learned about MG from my father's death.

He ran the antibodies and did a brain scan. They were both normal. I was sure I did have MG.

But at the end of August I started having such terrible fatigue. I actually couldn't keep my eyes open and the second I laid down I fell asleep and slept for 2 to 3 hours and then could get up and function again. Also, the early am dead tired double vision returned after disappearing for months.
And I started having some "ocular migraines" seeing colors as with a migraine but no pain.

My doctor talked with the neuro I saw and ordered a bunch of blood tests which were all normal again. I'm getting another MRI this Friday.

I did notice one thing though my original ACHR antibody test was 0. This time 7 months later it was .2 which is still in the normal range but getting closer to .5 which they call positive for MG.

I know my symptoms are atypical I was wondering if I should still feel confident I don't have MG or push the neuro for further tests when I see him.

I'm 41 years old. I have to nap now from 2 to 4 hours a day and often am just exhausted always. I don't have ptosis. Don't have trouble with my eyes at night when I'm tired. It's weird.

I really don't know what to think.

My daughter is 7 has some strange episodic neurological problem too. She is much less affected now. Best they could figure she had atypical child migraines. She has very mild ataxia always and about 3 to 4 times a year it gets worse for a couple weeks. We still have no answers after MRIs, EEG's, and a slew of blood tests. I kinda wonder about MG and her. She was never tested for that.

Anyway, this is very long. I love to hear you guys thoughts.

Thank you for your time.

Serena

Hi, Serena. I hope some of the knowledgeable people around here will chime in, but a few things stand out to me.

First, there are other antibodies besides the AChR antibodies that they can test for, such as the MuSK and LEMS antibodies. They should test you for these. Second, it's pretty common to test negative for the AChR antibodies at one point--especially early in the disease--and test positive later. And third, there are many people here (myself included) who are diagnosed with MG even though we never got a positive blood test for any of the antibodies.

A person in your position should certainly have a Single Fiber EMG! I am really surprised that you haven't had this test. It's a pretty specialized skill--not every neurologist (or even every neurologist who studies in neuromuscular diseases) can do it, but they should send you to someone who can.

Did your father ever test positive for the antibodies? I ask because with these symptoms in the family, someone should be looking into congenital mysasthenic syndromes. CMS is not an autoimmune disease, but a genetic one.

My MG symptoms are pretty atypical. I have never had ptosis, or not enough to really notice--one neurologist thinks I have it, but I'm not sure. My eyes are hardly affected at all. My first symptoms looked like ataxia--I was walking funny and having trouble keeping my balance. It took me months to understand that the trouble was caused by weak muscles in my hips and sides. The first doctor I went to thought it was an inner-ear virus, because it looked like a balance problem.

I hope you get some answers really soon. I know how hard it is to be in limbo like this.

Abby

Thanks for your response Abby. I think the fact that I've got AS which can cause a lot of fatigue leads them to believe that's the cause of my symptoms. I'm active on a forum for that but the level of fatigue I have, arm symptoms and eye symptoms aren't typical.

I'm starting to feel like a big hypochondriac myself with so many normal tests. But I'm definitely not acting or feeling normal.

My father did have a positive binding achr test. I looked up the results .59.

For whatever reason my daughter is so much better now than as a baby and a toddler. I'm very grateful for that. In fact none of her doctors can believe how much she has improved. But she is still definitely weaker than her peers and still has vague episodes.

I guess if my repeat MRI is normal I'll ask if my neuro can do further testing.

Does anyone here have there arm start to shake after talking on the phone for 15 minutes? That's one of my weird symptoms I've developed.

Thanks again for your response.

Serena, on a bad day I can't talk long on the phone because my arm isn't strong enough to hold it up. If my arm gets really weak and I use it anyway, it shakes. I think what you describe is consistent with myasthenia gravis.

I think you're smart to be careful not just to assume that any new symptom must be part of the same disease you're already diagnosed with, especially when it's known that people with one autoimmune disease are prone to others. I'm glad you're planning to ask for further testing. I was diagnosed by my third SFEMG (the first two were borderline and mildly abnormal; the third was done by a different neurologist, whom I traveled to Boston (from RI) to see).

Abby

The answer is that atypical presentations are typical for about 5% of patients with any given disease. (roughly). Also, many times such patients are more likely to have normal tests (after all those tests were found by checking typical patients, so it is not surprising).
Atypical symptoms with normal test results make the given disease much less likely, but much less likely is not impossible.
(after all someone does win the lottery each time).
When you have such an illness, you need a smart, open-minded, caring and dedicated physician who will be ready to be there with you, through the very hard diagnostic process. Someone who will be ready to treat you, even if your illness does not yet have a name.
This is a citation from an e-mail discussion I had with one such physician:
" even if the diagnosis is not absolutely clearcut at a molecular/biochemical/ structural level it is important to treat what is before your eyes and manage the consequences of a process even though cause not known. And it is the combination of that and being open minded enough to continue to explore the diagnosis as more information comes to light that makes all the difference."

Thanks for for sharing this info. I was reading here how muscle relaxants are to be avoided for MG. I'm wondering if that is part of my problem. I had started taking one at night for back pain. I skipped it Saturday night and even though I slept poorly no eye issues in the am. Took it last night and slept well and still had eye issues this am. Who knows.. something to watch.

Hey Serena,

My MG started with "silent" migraines so no one understood what was happening to me. I had all the symptoms of migraine but no pain. The migraines went undiagnosed as did my MG for a few years.

My daughter has MG now too. She also started with migraines at the same time. They say that MG with migraine is rare but I have met a few people online who have both so I suppose this goes back to docs not knowing everything and certainly not knowing every other doc and all their patients too.

We are both seronegative and have atypical MG presentation. You have to find a neuro who has enough ego strength to deal with the fact that you may not fit neatly inside the box in presentation. At least one who will do all the testing on you for starters! An antibody test is not enough to say that you are done with testing unless there is another explanation that totally fits for you. Hang in there....debra