Yes, Jenny....my second neuro dx'd me with MG based on clinical assessment and history at my first visit. Then all the tests were done. SFEMG, bloodwork, CT scan, etc. and nothing conclusive showed up. She stuck with her dx and started me on Mestinon - which is all I have needed for 3 years now.

Interesting side note....at my last appointment we went over how I was feeling, what I was able to do, and how much Mestinon I was taking. There was a pause while she reviewed my file, and then she said...'Well, we can forget the tests. There is no doubt you have MG. A 'normal' person couldn't handle that much Mestinon!'

Jenny, we are practically neighbors! I'm glad you are having a good experience with the doctors through PCH. Will keep little Keira in my prayers.

Tatia

I wanted to give everyone and update. I talked to Keira's dr last week about her blood work and he told me to call in Wednesday and let him no how she was doing and if there had been any changes. Well I called him Wednesday and informed him we noticed the droopiness in her eyes are still the same the only thing she is doing diffrent now is she will play outside and after about 30 minutes she says she is tired and wants to go inside and rest. She goes in for about 10 minutes and then comes back out. She has been doing this all week. It's starting to scare me. The dr thinks the myasthenia is progressing and wants her in next week to check her and possiably put her on that drug. Is it progressing like this cause of it getting hot here. She even does the resting when she is inside and playing. I feel so helpless and lost. I'm so afraid on what's to come. I'm trying to take it day to day but I don't know how to feel. I love this site. It has really helped me.

I'm sorry to hear that. She should NOT be getting overheated or be out in hot weather. "Hot" for me is anything above 72 degrees, if it's outside.

What extremes of heat and cold do to MG is that they increase the enzyme in the body called Acetylcholinesterase (AChE). In any body, acetylcholine is sent to the muscles. Then AChE comes in and mops up the excess amount. It's a perfect checks and balances system. Well, unless you have MG.

Mestinon keeps that enzyme from mopping up the ACh so that we can use our muscle gas for a longer period of time. But when you get too much of the enzyme from being out in extremes of heat and cold, it's harder to keep it from doing its job and we get less acetylcholine.

Does that make sense? Bottom line is to keep her from getting overheated. That would include fans, cool packs (like Boo Boo Buddies for kids made of gel) and drinking plenty of fluids. Getting infections can heat up the body too, so keep that in mind.

If your daughter can't move well, is having trouble breathing or can't swallow, it's time to dial 911. Don't be super Mom and bring her in yourself! It's important to get that care immediately. I'm not saying this to scare you! MG is manageable but you need to know what to look for and how to handle it.

I know it's hard watching your child be sick. But, again, you need to try to stay as calm as possible. Knowing that MG gets worse when someone does something and better with rest, you should schedule more rest periods during the day. Like reading time or anything else she likes to do. Naps too!

Does she let you know how she's doing? It's also not only after activity but towards the end of a day when things can get worse. And MG is odd. You can overdo it one day and have "payback" one or two days later. It's a really frustrating disease sometimes. She should not push things physically at all. If you push MG, it just pushes right back.

She's instinctively managing her MG already. What she probably needs to do is stop activity a bit sooner than when she gets worn out.

If you need any more information, please ask. One thing I'll say is that Mestinon syrup might be the way to go with your daughter. You can titrate it more easily. She might need to start with a super small dose like 12 mg (which is 1 ml) and work up from there. This is advice from MG experts!

So if your docs don't have this experience, they may tend to go for the big dose of 30 or 60 mg. right away. She might then have overdose symptoms. So you might need to go slow at first. At least have this conversation with them. Also, Mestinon only lasts for about 3 hours. So realize that this dosing schedule should be written down. It's easy to forget!

Mestinon syrup tastes like a less tart raspberry. It's not a bad taste at all! It does have 5% alcohol though. That's not very much. It's what I take and I like the flexibility of the dose adjustments.

I hope you'll realize that MG can be managed well. You'll have to take the lead on that though. As long as you make this new thing for your child like brushing her teeth or anything else "normal," she'll adapt well to it. Kids always amaze us in their ability to deal with things.

Annie

Annie that does make sense. She doesn't really know how to tell us what's going on. She just says she is tired an wants to go in. I ask her if she hurts and she says no. She will rub her eyes and just say they are bothering her. I have learned to notice her symptoms and ask her if she is ok and she says yes mommy just tired going to go lay down.

Okay, good. I would suggest that you get a referral to Mayo Clinic in AZ. Why? It is possible she has a CMS. Yeah, it could be MG but without a positive antibody test, you need to make sure. You don't want to even consider the immunosuppressant path until you know whether this is a genetic issue or an autoimmune one. Not that they would do immunos for a child! But if she gets worse, they may have to try something. Mayo would probably redo the antibody tests, including MuSK, and they can do the genetic CMS blood tests.

What ancestry are you? There are certain genetic populations - like Northern Europeans - that get CMS more often.

Annie

When we went to the dr the last time he said this wasn't genetic. I know he did blood work to check for mg not sure what it is called. I get all the dr notes after we leave so I can put it in her file. The last note he wrote was he was pretty sure it was mg. I'm going to my aunts tomorrow who knows some info about mg she doesn't know a lot but knows how to understand what the dr is saying in all his notes. She is a nurse and has been doing research on dr's. We just want to make sure she doesn't get diagnosed with something and then find out that's not the problem. I wish it was cut and dry like a lot of other health issues but it just seems there hasn't been lots of research done about mg. this site has been so informative. You can't find anywhere else on the web with info about mg like you can here.

There has been a lot of research about MG!

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

Yes, do get the doctor's notes. One problem is that a lot of docs don't think of CMS. It can clinically present the same way MG does. If it were my daughter, I'd ask the doctor for a referral to Mayo. The main CMS guy (who basically "discovered" CMS) is in MN but AZ docs should know about it too.

It's great that you have a nurse to talk to. I know how hard all of this is to face but you guys will get through it!

Annie

Thanks Annie for all the info. You have been so helpful. What test do they do for cms. It's been a lot of info to diges everytime we go to the dr. Do they have pediatric dr's at the mayo. If they put her on mestitone will it hurt her if she has cms instead of mg.

CMS's are genetic. There are over 100 different mutations. There are 3 basic types of CMS (simplistic but it will help):

1. Zero amount of acetylcholine (not a lot works)
2. Too much acetylcholine (Quinine, etc. used)
3. Not enough acetylcholine (Mestinon, 3,4 DAP used)

The ones that have too much acetylcholine do not usually get worse with exercise. But, again, there are exceptions to every rule. So, yes, if she had a sodium channel CMS, giving her Mestinon would make her worse. The more common one is where there isn't enough acetylcholine. There are variations within that too!

You do NOT want a pediatric expert on CMS! You want someone who has the absolute MOST knowledge of CMS. If that ends up being an "adult" doctor, see that one. This stuff is so rare that you want the best doctor possible. Because, yes, the wrong med could make her worse.

If you find out she has AChR antibodies for MG, then chances are that she has MG. A lot of the CMS's tend to run in families. Is there anyone else in your family who has these kind of issues?

I honestly believe that the way to go is Mayo. This stuff is just so specialized and most "regular" neuros don't know all of this. There are MG experts who don't have a clue about CMS.

I'm with you. I wouldn't want to get an incorrect diagnosis. You need to be sure because of the difference in treatments for all of these diseases. Genetic diseases do not respond to immunosuppressants/steroids because they are not autoimmune diseases.

Okay, go take a break and let all of this soak in. We're here to help.