What a day. First I went for a IVIG treatment which was at 930 in the morning. I had a one o'clock appointment with my neurologist so we thought we had time to grab a bite to eat. When my treatment was done we were sort of pushed for time and my wife is not a good driver in heavy traffic. So she panicked and we went straight to my neurologist and we were just a few minutes early.

After about a one hour exam, he looked at me and said not only do you have generalized myasthenia gravis you also have congenital myasthenia syndrome usually called CMS. So now I have another problem to work on. So this would explain why some medications and treatments are not helping. He had a few breathing test done in the office which appeared to be okay. For my blood work they took 13 vials blood. He also sent me home with a device that I strap to my hand while I sleep to check my oxygen levels.

We were in the urologist office for four hours and finally got to eat about 5 PM. So we had a very long day and now have a new battle to look forward to.
Mike

Do you know what made him think you also have CMS?

I'm not really sure. He said my upper body strength had improved and seemed puzzled by that. I would also say my family history played a part in that. My mother and 2 of her sisters had MG. It now seems my sister also has it. Also some of the meds and IVIG are not helping much.

He is pretty well known in the field. He was on the team that first discovered antibodies a number of years ago. I will discuss this with my wife as soon as she gets up. She absorbs info better than I do.
Mike

Wow, that's a stunning diagnosis. What seems so weird to me is that given your family history, they didn't diagnose you with CMS back when you tested negative for the antibodies (you tested negative at first and then positive later, right?). I'm glad someone's finally taking your family history seriously, though in your place, I wouldn't know what to think.

How old were you when you first started getting symptoms? I keep reading that the onset of CMS is in childhood, or in rare cases not until age 20 or 30. I guess your case is going to educate some doctors.

I'm sorry you have something else to deal with now, as if it weren't hard enough before.

Abby

When I tested neg I was seeing Neuro's who knew very little about MG. So I can't really blame them.

I was 70 when my double vision started. Mom was about 80 when hers first started and I'm not sure about her sisters but I'm sure they were in their later years. Now my sister is in her mid 50's. She is going to Duke next month. She showed slightly elevated binding but neg on single fiber. My Mg was positive modulating.

The doctor I saw yesterday is a real jerk. Has little to say and will snap your head off if you ask a question. I have seen him before 3-4 times so I knew what I was getting into. All that said he is one of the best in our region. I was referred back to him by my regular neuro for re-evaluation.
Mike

Mike, What Alice asked would've been my first question too.

You can't tell by looking if someone has cancer or other diseases. You can't do that with CMS either. There are genetic blood tests that they do, which I'm sure are what the many tubes of blood were for. Just like MG, you can have CMS and not test positive for the tests. They haven't discovered all of the mutations and you can see by the site below that there are currently over 100 of them. The other test they do, which I would NOT recommend, is a specialized muscle biopsy. It is basically surgery which has many risks involved due to where they take it from and how much they take.

So, what antibodies did this guy help to "discover?" You do know that CMS is a genetic disease and does not involve antibodies, right?

To me, real jerk = HUGE ego. If a doctor can't take you asking question, there's usually a reason for that and I doubt it's a good reason.

You need to know the truth, whatever that is.

If you have a CMS where you don't have enough acetylcholine, Mestinon is the main drug. 3,4 DAP is sometimes used but isn't always effective. Obviously, IVIG, steroids and any immuno drugs won't work. I know I've posted this a lot before, but it has the most comprehensive info on CMS.

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

I still wonder if something else might be making your situation worse. Have you seen an endocrinologist to make sure? So many internists are out of their realm when evaluating endo issues and people with AI's tend to have endo diseases.

Throw all of this your wife's way . . . I'm sure she's already thought of this anyway! Just make sure you get a "real" diagnosis and not a "It is so because I think so" one.


Annie