Something new-CMS plus MG
 

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. :cool:

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.

:hug:
Annie

Now I'm not really sure about this but I think he was saying that years ago they thought MG was a problem with the receptors and weren't really aware of the antibodies and that was when they discovered them and he was part of that research.

He did prescribe Albuterol and wanted me to start right away. He was curious to see what the effect would be. He wants me back in 30 days but normally won't do a follow-up for 90-120 days.
Mike

Frankly, to give a patient albuterol when they don't know exactly what KIND of CMS they have is malpractice. Yeah, I'm pretty opinionated on drug abuse. Why? There are CMS's that albuterol could make worse!

BTW, you are not a guinea pig and to treat a patient like that - without proof - is, well, you don't want me to say what I think it is.

I take Flovent (steroid) for my asthma. It helps my MG. My asthma is well-controlled but my MG is not. So it's quite logical for me to continue the steroid due to my MG. Now that's a sensible medical decision based on facts, clinical history and results.

Mike, you know I don't mince words. I think that taking a new drug right now when you aren't doing well is playing with fire. Plus, Albuterol can make you quite shaky. Your body can get "hooked" on it and withdrawal may be very hard.

If he knew CMS's so well, he would know that they are not all the same and there are even differences between the three basic types (not enough ACh, too much ACh and no ACh). No, I'm not an expert either but I've done enough research to know when something isn't logical or sensible.

In the end, it's your choice. I know you want to feel better. It's been tough for you lately. I don't want it to be harder, that's all.

Annie

I need to clarify something here. It sure is a good thing my wife goes with me. She said that the doctor told me that I had a Myasthenic syndrome. He did not specify which one so I assume he will wait on the blood work to return. He did prescribe albuterol which I will start today. My wife is not real happy about starting another medication. I currently take him about 30 pills a day. My hands are already shaking and she is concerned that this will only get worse.
Mike

What are you clarifying? It seems pretty clear to me.

Here's some common sense. If Albuterol makes you feel worse, why take it?

Would it hurt to wait until the blood tests come back? Probably not.

Albuterol can be very hard on the heart. Also, it has been shown to cause asthma attacks.

I'm just concerned, Mike. Take care.

Oh, I forgot, drink a little apple juice or other juice to cut the shaking. It works really well. It's a biochemical thing. ;) Perhaps have some protein with it though (a good protein like peanut butter), to keep from getting a drop in blood sugar.

I'm goimg to give it a shot. But I can assure you my wife will take it away if she sees I'm getting worse. As for my heart luckily it is strong for a 71 year old smoker. My wifes concern is my condition is not improving with any of this "witches brew" I'm taking plus all the IVIG treatments I'm getting. I am currently getting 3 IVIG treatments a week for 8 weeks. My wife wants me off Prednisone she feels it is causing a lot of my problems.
Mike

Mike,

First, thanks for answering my question.

MG (or rather myasthenic syndrome) is a very complex illness and can probably be caused by many genetic mutations, various antibodies and possibly a combination of them.

Like Annie said, in CMS they still do not know all the possible mutations, and they probably don't yet know all the antibodies either. There is late onset CMS (although the oldest I have heard of was 50), but there is also familial autoimmune MG. There is also at least one case report describing two sisters with both (CMS and autoimmune MG).

It sounds like the neurologist who saw you is very knowledgeable and experienced (I have met very few who know that albuterol is a very effective treatment in some patients with MG).

But, like Annie said, sometimes those physicians have a very large and over-developed ego, which is not a beneficial trait for a physician.

There are obviously some risks with albuterol (mostly at age 70), and you do need to watch your blood pressure, heart rate, and also levels of potassium, but compared to other treatment options in MG it is probably relatively safe.
I am younger than you and never smoked in my life, but have been taking it for the last 2 years (in my case in led to significant improvement and enabled me to go back to work part-time), without any significant side-effects. (it does make me a bit more nervous than my normal self, but nothing more than that).

The good thing about it is that the effect is noticeable within days.
Although you still have the fluctuations of the illness, and the more severe exacerbations, you find yourself suddenly being able to do on your good days what you couldn't for a very long time. For instance: my niece was a year old when I started taking albuterol. Since the day she was born, I couldn't hold her even for a very short while - if she was just put on my lap, within seconds I wouldn't be able to breath and be unable to move my arms or legs. She obviously didn't become less heavy, but I suddenly could not only have her sit in my lap, but also hold a book and read a story to her for a few minutes. I still remember that day, which was one of the happiest days in my life.

I agree with your wife that Prednisone is definitely something you want to get of, mostly if it is not leading to any significant improvement.

Mike, if you have a congenital myasthenic syndrome, then maybe the medical histories of your affected relatives will help the doctors figure out some of the details. I know there are all sorts of congenital myasthenic syndromes, and they cause different sorts of malfunctions in the neuromuscular junctions--and each kind of malfunction has its own group of typical symptoms. Maybe if the doctors use clues from your relatives' medical histories as well as clues from your own, they'll be able to narrow it down somewhat.

Does that make sense? For example, if your mother, her two sisters, and your sister all have it, doesn't that make it more likely that this is a dominant trait? If all of you didn't have symptoms until you were older, shouldn't that be a clue? And did all of you have the same symptoms as your first noticeable symptoms? That sort of thing. I hope they are interested in you. I hope they're fascinated by you. They should be.

Give my greetings to your sweet wife (she doesn't know who I am, of course, but I admire her a lot, how she gathers and processes information for you, and keeps on top of everything. It's a very concrete expression of love. That's the kind of wife I want to be).

Abby