You did not mention the results of your daughters colonoscopy.
Before being diagnosed with MG I was diagnosed with GERD and I take medicne for it and yet I was always constipated. My gastroeneroligist recomended Metamusal and I take it morning and night with great results and he takes it twice a day even though he has no stomach problems.
It's just fiber. I don't think it would to try.
Tony

MG Mom,
Your daughter had a colonoscopy; has she also had an endoscopy? We're talkin' two different points of entry here! A colonoscopy won't be able to diagnose Celiac, I don't believe. Gluten primarily affects the small intestine, and that is where the damage occurs.

If it has been over a year since she had an endoscopy (if she has had one), you may want to request another one. Our daughter has Down syndrome, so one of the screens that they do when they are 3 years old is a Celiac screen (people with DS have a 1-in-8 chance of developing CD). When she was 3, her test was negative. When she was 7, her CD numbers were literally off the charts, yet she was asymptomatic.

Most doctors will only screen once for CD - they don't realize that gluten's effects are cumulative, and that one negative test DOESN'T mean that a person can't develop CD later on down the line. They also used to think that kids with CD would "grow out" of it after being on a GF diet for a while, not realizing that CD is a chronic condition that has to be treated by avoiding gluten for life.

I would think, as many problems as your kids are having - and given the fact that they both have an autoimmune disorder already - you might want to request that they be tested for CD again, if it has been a while since their last screening. Incidentally, our daughter's CD numbers were back to within normal range within a year of being on a GF diet (which is true for most people within 1-2 years if they keep to a strict GF diet).

As I said before, a "standard" endoscopy can only reach so far - it won't catch the entire small intestine. And even then, depending on where the biopsy samples are taken along the intestinal tract, they still might not get a sample that has blunted villi.

There are several good Celiac forums out there - I am sure that on one of them you would be able to find several people who "flunked" all of the Celiac tests/screens, yet who still found relief on a gluten-free diet. My husband tested negative for CD, but all of his GI problems went away after he started following a GF diet - and when he accidentally eats something with even a small bit of gluten in it, watch out!

I am not the only person who felt like I had found a "miracle" when I quit eating gluten. The Celiac boards are filled with people - many of whom had been suffering for literally YEARS before finally being diagnosed with CD - who thought the same thing after just a couple of days. To think that something as simple as removing one tiny ingredient from one's diet would make such a HUGE difference in a person's quality of life is, quite simply, amazing.

And as I said before, many MORE people are believed to be gluten sensitive who will NEVER test positive for CD. The only way to know is to try a completely GF diet for a month or two. But, believe me, if gluten is the culprit, your kids will be able to tell the difference LOOOONG before a month is up!

She has had both, the EGD many time showing varying degrees of redness and irritation from the GERD. The colonoscopy was negative. It looked great. The latest tests they are doing is for the rectal muscles which aren't working very well. Next week we go to have a swallowing test done and another rectal muscle test done. Then on the 9th we see the doctor for all the official test results and discussion on what to do about everything. she is a mess. I will also at that time ask for another celiac test just to be sure. Also, I will ask for spine x-rays too since it was also mentioned that her spine could be the culprit for all this too. Thanks for all the great advice. I really love that people take the time to help with all these posts. Your advice is invaluable. Patients know alot more than the doctors sometimes because they are experiencing it themselves.

Hi, MG Mom. It's interesting that both your kids have MG. Do they have positive Acetylcholine antibodies? I am asking because there are the Congenital Myasthenic Syndromes, which are caused by a genetic mutation and tend to run in families. There are also "familial MG" too.

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

First of all, acetylcholine does indeed effect the stomach. Neuros don't know everything! In order to make stomach acid, vital to digesting food, you have to have three things: acetylcholine, histamine and gastrin. I stopped having stomach acid since about my late 20's (now 52). Without stomach acid, food does not get digested properly. It sits in the stomach and then "dumps" into the small intestine. It can back up, with bile, into the esophagus due to this, which sounds like what is going on. I also had reactive hypoglycemia due to this (a sudden drop in blood glucose), which brought on "shake attacks."

You may want to ask them to run the parietal cell and intrinsic factor antibodies. Pernicious anemia is common to occur with other autoimmune diseases. People with PA don't have any stomach acid because the antibodies attack the stomach.

You could try - or ask your doctor about trying - adding one tablet of Betaine HCL to each meal to see if that helps. It is a very mild acid usually made from sugar beets. I use the Solaray brand from iherb. I've been using for 11 years. My Mom, whose doctors thought having her gall bladder out would stop her indigestion and belching, uses it too. Those symptoms did not stop after removing the gall bladder, only after taking the Betaine HCL 12 years later!

The other thing that a lack of acetylcholine does is to slow paristalsis. What is that? It's how muscles move food through the GI system. When I went off of Mestinon for a SFEMG, I got completely constipated. It was awful. It went away when I went back on Mestinon. How much Mestinon is she taking? Adjusting the spacing between doses, and the amount, may help. Some people, like me, need a fairly constant dose of Mestinon all day. I take mine every three hours (90 - 100 mg).

http://www.nature.com/gimo/contents/...ll/gimo13.html

You need to sit down and have a discussion with her neurologist. Try not to make him feel stupid about not knowing about acetylcholine and the GI tract! He's not a gastroenterologist or anything. But, hey, neither am I. A little research never hurts.

MG can change from when you are 8 to when you are 18. Hormone changes can affect it. You may need to consider more treatments. Have these GI changes been recent or have they been constant since age 8?

Just because they didn't test positive for celiac doesn't mean they won't get it at some point. Teresa makes a good argument. I have MG and celiac. I've had MG since birth and got celiac in 2004. So keep an eye out for symptoms. Do you know if they ran the Reticulin antibody?

Added fiber is a good suggestion too.

Have they had their urine pH checked? Sometimes doctors forget to "think" about basic stuff like that. Have they had a basic chemistry panel done? An alkaline pH may suggest a lack of stomach acid.

I certainly don't think carving someone apart is a great idea either. You can make MG much worse and run the even greater risk of infection. I hope you will do a little more research and think about how the body works and what may be going on here. Maybe some autonomic testing would be in order too!

I hope you can figure out what is going on so your kids get some relief.

Annie

This is what we finally found out. She has severe rectal muscle weakness and doesn't even use the rectal muscle to go. She is using the muscle that wraps around the rectal muscle and when you use that muscle it just tightens instead of relaxing like it should. So, biofeedback we will try for that. With the GERD, the test showed that she was having bile and acid up in her throat with episodes lasting for over an hour at each time with constant stuff up in there. The are recommending a fundoplication so we will consult with a bariatric surgeon for that. Not really wanting her to have that done. A lot of research and second and third opinions needed for that. It has lots of side effects in itself and is non reversible. So, that is what we have found out. Going for an MRI of the spine to make sure fluid is not back causing all this anyway. Also, going to get celiac testing done and other stuff before proceeding with ANY surgery of ANY kind. Thanks so much for everyone helping me figure this out. Always get so much better advice on here than at the doctor. Thanks again.

Thanks for the update. It must be a relief to have some answers at least. Kudos to you for not 'jumping' at the first dx and rushing to surgery!!

Hope all works out well with the biofeedback training and your research on the bariatric issues. Pls keep us posted on your progress!

Sue

I have Celiac and can only confirm that you need to test, test and ask questions over and over again. Most Drs are light years behind the current stats. 1 in 133 is NOT rare. And symptoms can vary a lot... http://www.celiac.com/


http://ezinearticles.com/?Heartburn-...flux&id=315638

Even if all tests are negative then a trial of the GF diet may be diagnostic. Has she had genetic tests for Celiac ?

Another idea is to research the FODMAP diet. It may be an intolerance to fructose or fructans or sorbitols etc ..causing the problems. I have Celiac + FODMAP. I am having a bad stage at the moment as something I have eaten last week has upset me. My stomach is slow to empty ( I am an undx possible MG) and I have low stomach acid ( thanks annie for the reminder re the tablets - will do - had forgotten . I also have low B12 and possible gastric atrophy).

I had been sort of OK but now since this 'trigger' ( maybe trace gluten sold to me as "GF" ) I am quite ill. Lots of GERD, stomach pain, poor digestion, 'IBS" etc My throat feels like it is being burnt away. All for a few crumbs of gluten 'dust'. ( the factory also made other biscuits )

Dr Sue Shepherd is the leading expert in FODMAP and there are articles online. Some are out of date as new research is coming in all the time. There is quite a good yahoo list for keeping up to date. In some cases the intolerance can be eaten in small amounts or combined with glucose.

I have found this topic quite interesting. I was not aware that MG related to stomach problems and bowel problems like this. It all makes sense now.

MG Mom, does she have Hirschprung's? I'm still suspecting that there is SOME problem with gluten at work here. Even without a positive CD diagnosis, the malnutrition caused by a gluten sensitivity can cause muscle weakness, which will have been made worse with the muscle complications of MG.

I'm with you - fundoplication is the LAST RESORT; it's going to affect your daughter's ability to absorb nutrients. Since it sounds like she is already having problems with that, you want to avoid that whenever possible (fundoplication is also done at the same time as a G-Button is installed for people who have to have a long-term feeding tube put in).

I hope you are able to find answers soon!