New Potential Diagnosis Confused And Need Help Please

[snowangelheather]

Hello all,

I have been reading material online for hours and am just as confused and uncertain as before. I would love any input or advice. My 9 year old son has been dealing with stomach and bowel issues since he was a infant/toddler. He has been to countless specialists and put through many many test. Nothing every came back positive until now. We recently went to a new GI doctor who ordered a HUGE amount of blood work.

His TTG test came back at 27, according to the lab that processed it anything over 20 is positive. I am a little confused okay a lot confused. He goes for an endoscopy in two weeks. He wass tested for food allergies about a year ago and it was found that he had a lactose intolerance (mild) the doctor told us not to worry about it and there was no need for more testing or to change his diet.

His symptoms have always been "simple" massive constipation- he goes to the bathroom maybe once a week; sometimes his stomach hurts so bad that he misses meals or extracurricular activities. But other than that no real symptoms. I am a bit shocked that he could have a food allergy and we not realize it for 9 years. With the number so low and no real symptoms I am wondering if we really need to alleviate all wheat/gluten?

I am in the process of having my other child checked, now that I see it is genetic. She is 2 and has not had a firm bowel movement in many months, they are always liquid. Her ped doctor has done many test mostly stool samples but never a food allergy or celiac test?

Can you offer any advice. Is it really necessary to restrict wheat/gluten with such a weak positive (that is what the doctor called it)?

He also gets constant mouth sores and sporadic rashes on his knees. He also sees a Rheum. dr and a PT for a bone problem called Hypermobility Arthralgia syndrome. I am starting to wonder if somehow these are related to possible celiac??? Is there a test that can help definte or determine?

Thanks so much.

[Amyleigh0007]

Your son sounds ALOT like my son before his diagnosis. He would also go to the restroom once a week and it was a very painful process. If you read my signature you will see what foods my son is allergic to. It was a huge shock to get the Celiac and food allergy diagnosis. We didn't have a clue. As soon as we took gluten out of his diet he was a new kid. He now has regular, normal BM's. You will know more after the endoscopy. In the meantime keep him on gluten so you get accurate test results. As for the food allergy symptoms, my son didn't have any outward symptoms either. After the endoscopy we learned he has hive like bumps internally.

[lizard00]

Hello and welcome!! This website was a huge resource to me, I hope it is likewise for you.

To answer your question about food allergy and should you really change his diet:

Celiac is not a food allergy, which is why it didn't show up on a food allergy test. It is an autoimmune response, so yes, you absolutely should cut it out of his diet. He is displaying symptoms; you say he is constipated and has horrible stomach pains. Those are very much symptoms of celiac... along with the joint pains, mouth sores and rashes.

A weak positive on the tTG test is still positive. If you had a weak positive on a pregnancy test, would you doubt whether you were pregnant or not? You either are or aren't, same with celiac.

It seems overwhelming at first, but it gets easier with time. Please feel free to ask questions here, there is tremendous amount of support and experience.

[gfb1]

[snip]

A weak positive on the tTG test is still positive. If you had a weak positive on a pregnancy test, would you doubt whether you were pregnant or not? You either are or aren't, same with celiac.

right on.

positive is positive and negative is negative. there are no inbetweens.

it is not unusual to be overwhelmed by the voluminous, and sometimes confliciting, information available (not to mention all the scams, hoaxes and greedy sob's out there). mostly, no matter how smart you are, evaluating all the information is a matter of 'context'. and most folks do not have the experience and/or training to evaluate/synthesize all the information.

it is one of the huge values of this board -- lots of folks with years of experience dealing with what are,, sometimes, very individualized problems.

it is certainly a daunting task when starting, but does, as noted before, get easier.

hang in.

[snowangelheather]

Okay that was probably one of the best statements I could have heard-- "If you had a weak positive on a pregnancy test, would you doubt whether you were pregnant or not? ". That makes total sense. But it is still so surreal. I am very glad I found this website, as there is a ton of resources!!

It makes it very confusing when everyone keeps saying, well it is a weak positive (meaning his doctors) but then nobody can or wants to define the difference between a strong positive or a weak positive. I will wait to alleviate gluten/wheat until after the biopsy so it doesn't affect the results.

This should be very interesting in my house, we are already vegetarian so alleviating wheat/gluten is sure to be an adjustment.

The hypermobility arthralgia syndrome that he was recently diagnosed with is also an autoimmune disease, it is a connective tissue disorder.

I am thinking it might be time for me to undergo some genetic testing. I do not have the first bit of information about my family background or history. So I always answer unknown on all that stuff, but I am beginning to think that I might be a carrier for some genetic disorders.

Will have to put a call in to my primary care and hope he agrees to order the genetic testing.

Amy, that is very encouraging to hear. My son has had many enema's and took miralax for years and it never did anything. I finally took him off the medication when his teeth started loosing enamel and turning yellow. He now has permanent damage and sees specialists for it. Other than all these strange things, he is very healthy and does excellent in school. He is also very well behaved.

Thanks for all the responses.

[KathiSharpe]

Hypermobility Arthralgia syndrome???

Is it connected to ehlers-danlos syndrome (EDS) - referred to by some docs as hypermobility syndrome (HMS)? (see ednf.org for more info) ... I can see a doc calling EDS type III/HMS "arthralgia" - it sort of makes sense.

If so - or maybe even if not - there's a good chance that it's all connected. A few years ago I was finding interesting links between EDS, fibromyalgia with hypermobility, and gluten intolerance. I don't think I ever found anything really conclusive, but what I printed off was enough to make the doctors go, "Huh."

In my experience, going completely gluten-free (and your son should go DF too even with a "mild" lactose intolerance!) does not resolve the hypermobility but will lessen it, and also help with the overall level of body pain.

[snowangelheather]

Hypermobility Arthralgia syndrome???

Is it connected to ehlers-danlos syndrome (EDS) - referred to by some docs as hypermobility syndrome (HMS)? (see ednf.org for more info) ... I can see a doc calling EDS type III/HMS "arthralgia" - it sort of makes sense.

If so - or maybe even if not - there's a good chance that it's all connected. A few years ago I was finding interesting links between EDS, fibromyalgia with hypermobility, and gluten intolerance. I don't think I ever found anything really conclusive, but what I printed off was enough to make the doctors go, "Huh."

In my experience, going completely gluten-free (and your son should go DF too even with a "mild" lactose intolerance!) does not resolve the hypermobility but will lessen it, and also help with the overall level of body pain.

Wow it does sound really similar to EDS. The website said Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis." My son has a 26% hyperextension rate. This is exactly what he experiences. When we went to the doctor the doctor said it was genetic and asked me to do a few movements and said it was clear he inherited from me.

What I found interesting is that on the website you gave it had a reference to scoliosis--I was diagnosed with severe scoliosis in 6th grade. had to wear a brace at night and during the day for years. I haven't thought to check my son yet. Guess it is time.

I keep repeating to myself...this is so crazy...

[KathiSharpe]

Wow - it sounds like both you and your son have EDS, Heather.

EDS is a disorder affecting the collagen, which is the "glue" that holds joints and tissues together. A gluten connection seems to make sense because proper nutrition/absorption is needed for the body to make the stuff properly. (which leads to "which came first, the chicken or the egg" type "can it be reversed" questions)

EDNF is a great organization - they can likely help you to resolve the "arthralgia" vs. "eds" question if necessary, and help you find a local specialist. (If you're in North Carolina, Dr. Koman at Baptist Hospital ROCKS )

The #1 thing with EDS as I'm sure you know is joint protection. Don't let your son show off - he'll regret it later in life! If the fingers are that hyperextensible, look into doodads called "silver ring splints" - insurance covers them (sometimes you have to fight, but they WILL cover them!).

Wanted to add re: genetic testing -- EDS is a genetic disease. It comes in several different flavors (the docs re-classify them all every couple of years, based on new research and a need to keep things interesting). Some types are dx with a genetic test, others (including types I and III, the main "hypermobility" types) are dx by observation and ruling out other diseases. You may hear that EDS is deadly - the main risks for the hypermobility types are the aorta and uterus rupturing - both fairly uncommon. Screenings should be done periodically, as well as visits to specialist eye docs and dentists.

[Amyleigh0007]

Enamel loss is a symptom of Celiac in children!

My son also was on Miralax for years. It did nothing. Wow, our sons sound so much alike! My son is also well behaved and does great in school (a superior IQ if I can brag ). Except for the constipation, slow growth, and leg cramps at night he really didn't have other symptoms.

I would recommend genetic testing. I just had it done. Not only did I learn about myself but I learned about my daughter and parents! I did mine through Enterolab. It was a cheek swab and very easy. I received my results in about 16 days. Good luck to you!!!

[tom]

...

It makes it very confusing when everyone keeps saying, well it is a weak positive (meaning his doctors) but then nobody can or wants to define the difference between a strong positive or a weak positive.

My first thought is 'some number of increasingly miserable years.'

And I also agree that many, if not all, of his symptoms could be due to celiac.