Daughter with possible mg
 

Hello everyone I have been reading in this forum and my mind is on overdrive. My daughter is 4 years old and we noticed in December her left eye looked a little droopy. We went to her pediatric dr and she referred us to pediatric opthramologist and to get in right away. So we went there two days later and they checked her eyes. She has perfect vision. The dr thought I was over reacting and that her eyes didn't look that droopy. I showed her pictures of my daughter from before and she decided to measure her eyes. Her left eye measured 8 and right was 9. She wanted us to come back in two weeks so at the two week appointment she noticed the right eye now looked droopy so she measured again and left measured 6 and right 7. She believed it was myasthenia gravis. Well I had never heard of it and she wanted her to see a neurologist. So I started freaking out and wanted a second opinion. I went to another pediatric opthramoglist and he noticed eyes looked great other then the droopiness. Saw pressure behind the eye so we had a MRI done and it came back normal. We went to a pediatric neurologist and he thought it was ocular myasthenia and wanted us to see a neuro that specializes in that. We just went there Thursday and he is pretty sure she has mg. she is a healthy little girl and he thinks it may only be in her eyes. This is where I have a couple questions. She did blood work on Thursday and it's so hard waiting for the results. He is testing her for some other disorders. He noticed her calf muscle and Achilles tendon was very tight. I dismissed it cause we just spent 3 days walking in Disneyland. Is this something that I should be concerned about? Also she never really had reflexs in her knees when dr would check her. Is this something related to mg? My daughter also has gotten very emotional lately. I have mentioned it to the dr and they say it's most likely her age but it is crazy. She will just cry on a drop of a dime. I asked her if she sees double and she says no. She gets tired very easily but my daughter is so very active. She can run all day stop for 5 minutes and rest then at it again. Please if anyone has any info while I wait for the blood test to come back it would be greatly appricated. Thank you for letting me just write. I haven't been able to really talk about it I feel numb.

Big hugs. I have a daughter with some major issues (not mg) and I know how distressing it is. It just makes your "mommy heart" ache.

Please be aware that the blood test sometimes come back negative and the person can still have MG, so sometimes a diagnosis is made based on symptoms alone. I know that probably just confused you, but I wanted you to know that in case the test comes back negative.

Waiting is so difficult, and your little girl probably senses your tension, as well as feels unsettled herself. I hope you can get some answers soon.

I am sorry you and your daughter are having to go through this...and yet the really very good news is that your doctors are not ignoring anything. The waiting is so stressful - but hopefully you will get answers when the tests come back.

Hi, Angel19291. This is a great place to be! And it sounds like you need the support. The first thing you need to try to do is relax. I know that's not easy when a child is involved but she is going to follow your lead and you need to stay strong in front of her. Freak out all you want in private. ;) If she has MG, it is manageable. Yes, it will change both of your lives but it does not mean she can't have a good life. I had MG all of my life - misdiagnosed as lazy eye at age 10 - and didn't get diagnosed until age 41. I simply altered my physical activities up until my 30's when I kept getting worse because I wasn't on drugs.

First, I'm sorry your daughter is having health problems at such a young age. If the doctors think she has MG, there is another group of diseases called Congenital Myasthenic Syndromes (CMS) that are sort of like MG's cousin! MG is an autoimmune disease that causes not enough "muscle gas" whereas CMS is a genetic disease that can cause not enough or too much of it.

Have they checked some basic things like her thyroid function or a chemistry panel, looking at glucose? Are they sure she doesn't have diabetes? The mood thing is why I was asking about that. When glucose gets low, you can have all sorts of symptoms, including weakness.

As far as the calves being tight go, when muscles get weak, they can get tight and cramp up. With people who have MG, it tends to happen more quickly than with those without it. Marathon runners or other athletes have that happen but it's from "overuse." MGers get to the point of "overuse" much more quickly. ;) I have been having trouble with my calves lately and have been waking up with them cramping. Make sure your daughter is well-hydrated. Has she ever complained of pain in her muscles?

If she does a lot of sitting, you might watch to see if she tenses up her muscles. Or if she "perches" her leg on the ball of the foot. That will tense up the calf muscles. Also, if she has her legs in a 90 degree position too often, those back of the leg muscles tend to need more stretching out. They can easily get too weak by being in one position too long.

What you might want to ask your daughter is if she thinks objects are blurry. A 4-year old, no matter how smart, may not be able to tell you if they are seeing double. Double vision can be off to the side, in front, up, down, close, far and everything in between! I had blurry vision, which I later found out was double vision. With MG, if you close one eye, the blurriness and double vision goes away. I'm surprised the eye doctor did not do more to explain that or test for it. A neuro-ophthalmologist would do more specific tests and be more thorough. Sometimes children need to see "adult" doctors.

MG makes muscles weak. What people don't understand is that when your muscles are weak, it affects the brain too. You can get to a point where you simply cannot even handle a conversation. The emotional response is probably normal. Stress can make MG worse and make someone even more emotional! It's hard to explain if you don't have it. But you can get so run down that you literally cannot cope with anything, physical or mental. And that's very frustrating! Emotions just naturally follow that.

If she has MG, you need to know that we get worse the more we do. Activities should be alternated with rest. Walking around at Disneyland was probably too much for her. You combine heat, which makes MG worse, with a sustained or repetitive activity like walking, and MG can get much worse. She may need to nap more for awhile. She should get an adequate amount of sleep at night, probably more than the average 4 year-old.

I know that waiting for test results isn't easy. But try to relax and know that this disease, if she has it, is manageable. There's a big learning curve to it though and you will want to know as much as you can in order to help her. But wait until you get those results and a diagnosis. Keep an eye on her, make sure she doesn't overdo activities. If she gets really weak or short of breath, you'll need to go to the ER. Don't panic! It simply means she would need some medications and possibly oxygen.

When you find out what's going on, please come back and we can give you more information. In the meantime, you need to take care of yourself too! Stress doesn't help anyone. And don't underestimate the resiliency of children. Sometimes they cope better than adults! ;)

Take care. :hug: I hope you get answers soon.

Annie

I wanted to add that MG doesn't stay only ocular in very many people. If you think she has weakness anywhere else, like her swallowing muscles, neck muscles or anywhere south of that, you need to tell the neurologist right away. If they are not an MG expert, they may not "get" this disease. And there's a lot to know AND understand.

First i want to thank you all for writing me back. Annie you have helped me so much. I got all of my daughters blood work back and everything came back normal. I am thrilled but the dr says the blood test for mg isn't always 100% in children. So now I sit here wondering does she have it or not. The dr still believes she does and wants me to call him in a week and let him know about her eyes. He thinks she will need to go on meds in a couple months. I'm so afraid of this for the fact what if she doesn't have mg and takes this medicine or what if I don't give her the meds and we end up with a serious problem. I feel more confused now then I ever have. I have always been the type of person where if you rule out one thing let's go to the next so if there is a possablty it's not mg then what else is causing the strain in her eyes. She wakes up in the morning and I see no droopiness if she reads her books draws plays with the leap pad and within not even an hour her eye begins to droop what's causing this. Have any of you had normal blood work for mg then it turns out later in another blood work that you test positive. The heat thing scares me Annie cause we live in Arizona and it gets very hot here. I wish I could take this away from her and give it to me whatever it is. Kids are so mean now a days I don't want my baby girl made fun of. What does a mom do. What do you guys do. I feel so overwhelmed and helpless. Thank you all again for the kind words.

Hi Angel

It is not terribly unusual for the blood test to come back negative...even in adults. And yes, there have been many instances where the first one - or even more - blood tests were negative before one came back positive.

I have never had a positive blood test - - yet I take Mestinon every day (going on 3 years) and it makes a tremendous difference in what I can do and how I feel.

Yes, heat can be an issue...and I am more challenged in the summer time (I live in hot humid south Texas). Normal stuff will probably be fine. Soccer practice after school in September...maybe not!

As a Mom - of course you want to take this 'away' from your child. And you worry for her and you wish it were different. If it's MG, your daughter will adjust with the help of medication, family, and education. Kids are far better at adjusting than adults!

Try hard not to dwell on the things that you fear. Children can sense a parent's concern / fear. Instead, keep open communication about the illness, the way she feels, the dx, the medication, etc. Take it one step at a time. Kids can deal with a lot when they know what's going on and have the support of family.

It's okay not to have all the answers right now and your doc sounds like he's on top of things. Just know that there are folks here to support you in whatever way we can.

[QUOTE=suev;865159]Hi Angel

It is not terribly unusual for the blood test to come back negative...even in adults. And yes, there have been many instances where the first one - or even more - blood tests were negative before one came back positive.

I have never had a positive blood test - - yet I take Mestinon every day (going on 3 years) and it makes a tremendous difference in what I can do and how I feel.

Yes, heat can be an issue...and I am more challenged in the summer time (I live in hot humid south Texas). Normal stuff will probably be fine. Soccer practice after school in September...maybe not!

As a Mom - of course you want to take this 'away' from your child. And you worry for her and you wish it were different. If it's MG, your daughter will adjust with the help of medication, family, and education. Kids are far better at adjusting than adults!

Try hard not to dwell on the things that you fear. Children can sense a parent's concern / fear. Instead, keep open communication about the illness, the way she feels, the dx, the medication, etc. Take it one step at a time. Kids can deal with a lot when they know what's going on and have the support of family.

It's okay not to have all the answers right now and your doc sounds like he's on top of things. Just know that there are folks here to support you in whatever way we can.[/QUOTE


Thank you so much suev. Did your dr diagnose you with mg even with all the negative blood work. I love the drs she goes to. They seem to really be on the ball. It's really hard to find info on mg but this site really has lots of info. I thank each and everyone of you helping us through this.

Where do you take her? Are you in the Phoenix area?

Tatia in Peoria

I take her to Phoenix children's hospital. There is a neurology department there. She has met with dr Allen Kaplan and he referred us to dr saunder bernes.

My name is Jenny and my daughters name is Keira. We are in the Glendale area.

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. :hug:

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.