I'm very sorry your son is having such difficulties. Does he have someone to talk to about it? I ask because it's so much easier if he can talk to someone who has a similar disease or a psychologist (or counselor, considering his age). Or even talking to a good friend. These diseases are hard enough to wrap your head around when you're an adult.

Is he on any drugs? Like for the ADHD? The reason I'm asking is due to the night sweats and low grade fevers. Those are not symptoms of MG. MG is all about muscle weakness and any of the 640 skeletal muscles can get weak. Do you know what his blood pressure is? Have they checked his pulse oximetry (to see what his blood oxygenation is)? Night sweats could be from sleep apnea, which some people with MG have, or low oxygenation while sleeping. A pulmonologist can do an overnight oximetry, where they give you a monitor that records your son's O2 level all night.

What about a metabolic panel, looking at kidney and liver function, along with electrolytes? Did they do a CPK (creatinine phosphokinase) test? It's a blood test.

And, do you have copies of all his test results? If not, see if you can get them. Doctors don't always tell you everything they find, believe it or not.

It's interesting that the other new person (Donip) who posted has a son with ADHD who has signs of muscle weakness. It makes me wonder if the ADHD drugs may be causing some kind of drug-induced weakness. Some other drugs can do that. Don't worry, I'm simply putting a thought out there! There's no evidence out there of that. Don't go changing anything! I'm not a doctor!!!

You do have the right to ask to see a CMS expert at Mayo instead of a pediatric doctor. I don't think it would take that long to get in. That's ridiculous. To make a patient wait who might have a disease that can cause them significant muscle weakness is dangerous. Not to worry you, or anything, but to tell you that you can be a "squeaky wheel" for your son and do some more calling to Mayo. They have patient care representatives that you can talk to. It's fine to go to UC Davis. But what is more convenient for YOU?

The coughing with a "choking sensation" concerns me. I think you should take him to a pulmonologist as soon as you can. They are the ones who check lung function and if the breathing issue is from a neuromuscular cause. Other than the basic PFT's, they can do MIP (maximum inspiratory pressure) and MEP (maximum expiratory pressure) to check how his chest wall muscles are doing at breathing in and out. If his O2 is low or his breathing tests aren't normal, they can do an arterial blood gas to see how his breathing is affecting his body's metabolism.

I know this is a lot to take in. I can tell you that many patients with either CMS or MG can live semi-normal lives. One of the most vexing things you'll have to think about (later) is what drug or drugs your son can take for it. That choice will be markedly different depending upon whether he has a genetic CMS or autoimmune MG.

Has anyone talked to you about what CMS or MG is? Basically, not enough of a neurotransmitter called acetylcholine (ah-seat-ill-co-lean), aka ACh, gets to the muscles and they get weak. In MG, antibodies attack the muscle receptors in the neuromuscular junction (where nerves and muscles meet). Because of that, there aren't as many receptors to "receive" the ACh (what I like to call muscle gas). Patients may have enough ACh but it doesn't get to the muscles because it's getting "blocked" from going to them.

I don't want to overwhelm you but there's a lot to know about CMS and MG. For example, there are antibiotics he should not have, like Ketek/Clarithromycin and Quinolones (i.e., Levaquin). Other drugs are contraindicated in MG. Have you been to the www.myasthenia.org site? There's a load of info there too.

One of the biggest triggers for making MG worse is hot weather. Actually, it can be even in the 70's and I can get worse. So you need to let your son be aware of that. Kids can tend to "pooh-pooh" things like that but you have to let him know how serious it is. If chest wall muscles get too weak, they may not be able to get enough oxygen to the body. Cooling the body down is essential, as is resting for a few hours.

What is an emergency in CMS or MG? When he has trouble swallowing, cannot breathe well either in or out or has generalized weakness that is limiting his ability to do simple things like getting out of a chair, then you need to dial 911. You can't predict how badly things will get or how quickly. The best place for him is in an ER. If that happens, you have to be crystal clear with doctors that he has either CMS or MG! Do not let them say some inane thing like "he seems to have anxiety" and that's causing the breathing problem. An "arterial blood gas" test can show that an MG patient has "hyperventilation" but that does not mean that the patient was hyperventilating to get there! At that point, the muscles are "decompensating" (aka, getting much weaker) and the chest wall muscles can't keep up with the oxygen need of the body.

I'm sorry, I don't mean to overwhelm you with all of this information. These are things that doctors don't have the time or take the time to tell you. There's more to learn too but those are the highlights. People here have a lot of help to give you, depending upon what you want and need.

I think the hardest part of having MG, at least for me, was how limiting it can be. I can't work, I can't do much of anything really. I can't have the drugs some people can have though, other than Mestinon. There are some people who are better, with or without drugs, and lead more normal lives. But, still, you alway have to be aware that MG is unpredictable. You can be fine for a week or a month and then be worse. CMS's tend to be more "constant" in weakness but not all of them.

Have they checked your son's Ig's? Like IgA, IgE, IgG, etc.? If he has low IgG's for example, that can affect the antibody tests. Some people with autoimmune problems can have low immunoglobulins.

The choking/coughing he is doing, does that happen at a certain time of day? After activity? I think keeping a journal would help both him and his doctors. Track things like what he has been doing, how much sleep each night (lack of sleep can make MG worse), how severe the symptoms are (from 1 - 10), etc. If he does get worse, he needs to rest to get better. He's not on any MG or CMS meds, right?

Yes, doctors do love to contemplate their OWN navels. Too funny. Your son's been what I like to call a "Ping-Pong patient," with nothing good coming out of it other than being a very long game without a winner. I hope you have a good internist who can try to pull of this together for you.

Please let me know if there's anything else you need or if you have any other questions. There are a lot of people here who have lots of experience and really care. Post any new post anytime you need to! This is a hard thing to deal with and I doubt the learning ever ends.


Annie