[AnnieB3]

Annie....I hope you don't mind my "hijacking" your post. I saw a post you made earlier this year, and wanted to get in touch with you. We are in the process of diagnosing my son (15). It has been long and very very slow. In a prior post this year, someone was discussing limb-girdle, and you mentioned CMS and testing for it.

My son has had a positive EMG during RNS. Acetylcholine was negative. We're waiting for MuSK results, and they are also checking Carnitine and Acetylcarnitine. In the meantime, Neuro (who does not communicate much or well) referred us to UC Davis. The other option we're looking at is trying to get him to into Mayo. Both of these were the options you mentioned in your earlier post in reference to CMS. You seem to be very knowledgeable/experienced and I am grasping at straws trying to help my son. Any advice?

I thought I'd start a new post for you because it may get lost in another post. There are people here who can probably help you.

First of all, welcome to the forum. Do you want to be called sdmama or something else?

Getting diagnosed with an "odd" illness can take awhile. If your son has a CMS, it can take longer. Has he had symptoms since he was younger? What are his symptoms? Is he really weak? Have they even tried Mestinon?

I have no experience with UC Davis, at least not directly. If you live closer to the Mayo Clinic, that might be a better option (the Rochester, MN location). I'll be blunt . . . they probably treat children better there than they do us adults. You have to prepare well before going there, like what hotels to stay at, which ones have a shuttle to Mayo, etc. Rochester is an easy city to get around in, so that helps.

Does your son have shortness of breath? Have you taken him to a pulmonologist for breathing tests if he does?

So please tell us what else we can help with, okay? I know it's hard to watch a child go through something like this but you do want to get the diagnosis right. An EMG in this case is not "proof" enough. They may also want to do a muscle biopsy, so prepare for that thought! I'm sorry your son and you are going through this. It's not fun but these diseases can be manageable.

Annie

[sdmama]

Originally Posted by AnnieB3

I thought I'd start a new post for you because it may get lost in another post. There are people here who can probably help you.

First of all, welcome to the forum. Do you want to be called sdmama or something else?

Getting diagnosed with an "odd" illness can take awhile. If your son has a CMS, it can take longer. Has he had symptoms since he was younger? What are his symptoms? Is he really weak? Have they even tried Mestinon?

I have no experience with UC Davis, at least not directly. If you live closer to the Mayo Clinic, that might be a better option (the Rochester, MN location). I'll be blunt . . . they probably treat children better there than they do us adults. You have to prepare well before going there, like what hotels to stay at, which ones have a shuttle to Mayo, etc. Rochester is an easy city to get around in, so that helps.

Does your son have shortness of breath? Have you taken him to a pulmonologist for breathing tests if he does?

So please tell us what else we can help with, okay? I know it's hard to watch a child go through something like this but you do want to get the diagnosis right. An EMG in this case is not "proof" enough. They may also want to do a muscle biopsy, so prepare for that thought! I'm sorry your son and you are going through this. It's not fun but these diseases can be manageable.

Annie

Thanks Annie. I apologize for the earlier hijack. I wanted to contact you because you had discussed CMS, Davis and Mayo, all of which I am dealing with right now, and I didn't know how to do that.

Since my last post, MuSK, and all the other tests came back negative, leaving us seronegative MG, CMS or something else altogether as options.

My son has been bounced from one specialist to the other, but everyone agrees at this point, that the problem is neurological and is affecting the neural junction. My son now tells me that his legs have bothered him for years, but the visible symptoms starated 19 months ago with eyelid swelling (which I am now told was actually ptosis) that lasts 24 to 48 hours, followed by fatigue, muscle weakness, headaches and night sweats and low grade fevers. This would last a week, and then he'd be fine until it randomly occured again. Then last march, his eyes swelled, the other symptoms started, but never went away, and are becoming progressively worse.

We have seen 2 opthamologists (not eye specific), 2 allergists (he is not allergic to anything, a dermatologist (not skin related, an ENT (he has a deviated septum and cyst, but no active infection), a nephrologist (microscopic blood in urine is nothing), ID (not infectious), hematology (not polycythemia or carcinoid), 2 rheuems (not myositis, lupus, or fibromyalgia but both noted neuro weakness in the legs) a psychologist (for 2 months) and a psychiatrist (who has treated him for years for adhd) both of whom say it is not psych.

Neuro found progressive weakness with exercise. EMG was positive on RNS and she told us she would do a muscle biopsy if Acetylcholine receptor test was negative, but she consulted with UC Davis, and did a 180. UC Davis suspects CMS with a Dok7 mutation and has agreed to see him on an expedited basis, but they are on vacation for 2 weeks, and didn't put him in the system, so we are on hold. Mayo Neuro kicked him to Ped Diagnostics, and we are waiting to hear. Their average wait time is 18 months, at which time he won't be a Peds patient anymore.

My son has gone from an ADHD competetive all star baseball player with significant potential for a golf college scholarship to a kid who thinks about whether its "worth it" to get up to go to the bathroom. Until about a month ago, he was too fatigued for school and slept most of the day, but could get around if he had to. In the last month, he is fatigued walking from the car to his medical appointments and has started to waddle. He complains of heavines in his chest (although his oxygenation is fine) and this week started coughing with a choking sensation (although he is not drooling and can still swallow liquid and solids). We are supposed to keep on eye on all of it.

I did learn this week that my second cousin's three year old has similar symptoms, and they don't have any answers for him yet either, so maybe it is genetic after all.

I guess all I'm looking for is what I can learn from the experiences of others. It is killing me watch my vivacious, vibrant son with an inordinate zest for life, spend his high school years on the couch, while doctors wait around contemplating their navels.

Thanks for "listening"

[mrsD]

I had a patient once have a massive allergic attack at the field where her son was playing soccer.

She never found what it was either. But we wondered about chemicals on the field, or heavy metals, or pesticides.

[AnnieB3]

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

[sdmama]

So much information! Thank you!

He has had all that bloodwork done, and everything always comes back normal. He is "perfectly healthy" on paper.

He has been seeing a psychologist for the last two months. One of the Rheum's said that she thought it was all psycho somatic...with which we did not agree, but figured if she thought so, then others might also, so he started seeing someone, figuring that even if the situation was not caused by stress/anxiety/depression, it could be causing stress/anxiety/depression. Even though he was very resistent at first, he is now finding it very helpful to have someone to talk to. His friends have also been very supportive and concerned.

For the last 6 weeks, my son has been taking nothing at all. Advil and tylenol don't alleviate his symptoms, and we took him off the ADHD drugs. None of the docs thought the symptoms could be caused by Strattera because he took it every day, and his symptoms (at the beginning ) came and went whether he was taking the drugs, or not. Nevertheless, two of the possible side effects of the drug are muscle weakness and fatigue. Still, the muscle weakness reported was generalized (not just the legs) and my son remembers have the leg weakness going back years before he ever took the meds.

One of the few medical issues we confirmed through this process is that my son has a deviated system and some sinus disease (though no active infection). It doesn't explain most of what's going on, but does explain some of the breathing issues and headaches. He did have a complete sleep study done (family history of sleep apnea) and it was normal too.

The good news for the week is that the UC Davis doc responded to my email, and we will get in to see him in July. I am not giving up on Mayo and will go there if Davis doesn't answer our questions, but the Davis guy seems willing to do whatever is necessary to get my son in sooner rather than later, and responded personally to my email, so that sounds like the best option....for now. Based on what the local Neuro says, they are convinced he has CMS with the Dok 7 mutuation.

What I've found through this process, is that until we get a diagnosis, all I really need the docs for is to run the tests... whoever will do it first is fine with me. Now getting the best treatment plan....that's a whole different hurdle I can see in the distance, but I'm not going to "go there" just yet.

Thank you again for all your info, it is a bit of comfort, which is not easy to comeby.