Undiagnosed kid--what to do?

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rivitex

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Sep 12, 2013
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I've been reading posts here for a while but have just joined to seek help. My 11 year old son has had "functional abdominal pain" for 9 months now. He's had endoscopies which show acid damage from reflux, but he isn't bothered by reflux. He's had a colonoscopy. Other than the reflux, the scopes found nothing.

His GI did say they saw "white dots" in the last scope but the biopsies came back negative.

We just had an MRI with contrast--nothing.

He has some constipation, never diarrhea. His abdomen is always bloated, which made us suspect SIBO, but the MRI didn't confirm that and a two week dose of xifaxan did nothing.

Early on the doctor did a test for genetic markers of Crohn's which was not positive, but now we've just found out we have a family member with Crohn's, which somehow no one saw fit to tell us before now. I am trying to find out what test was done.

My son has had periods of abdominal upset every couple of years, but this is the longest. He missed most of school in the spring; we really hoped he'd be back on track by fall but now we are on about half-time. This is a whole can of worms--I don't know whether to give up and hire a tutor (we're paying for a private school he can't even go to?), enroll him for online school? I am in poor health myself and just taking care of his health take all my energy and time. I just don't have the resources to be helping him with schoolwork at home (even though I am a trained teacher, lol.)

What do I need to do? More tests? Different doctor? Go to a specialist (we're in Texas). Shoot myself? I'm beginning to see that this kind of long-term issue is not uncommon, but it is hard, really hard, to accept that a kid can be so sick they can't go to school for NINE months and not have any kind of diagnosed illness.

We've tried all kind of alternatives (chiropracty, Chinese, accupuncture, nutritionists, neuroimmune specialist), all kinds of supplements, all kinds of diets.

Currently, he eats turkey, chicken, lamb, fish, eggs, hard cheese, almonds, fodmaps-allowed vegetables, squash, berries, honeydew, some apples. (He is lactose, gluten, and soy intolerant.)
He does eat potatoes and yams because we don't eat any grains. We are thinking of switching to SCD. He is taking Axid, Amitiza, Donnatal, and Miralax, plus enzymes and supplements. Doc wants him on VSL but he hasn't been able to tolerate it regularly.

Out of ideas here!
 
I've been there and I'm sorry you are there now. There are no words to truly describe the frustration and concern when you don't have a diagnosis.

My best advice - don't stop until you have answers! Find a new doctor, try a new hospital, be your child's advocate. It took 2 GIs, a dermatologist, 2 hospitals, 3 scopes, a CT scan, an MRE, a pill cam, lab work, x-rays, and a leg biopsy for my daughter to get a diagnosis of IBD. It wasn't a fun path and I'm sorry you are now on it.
 
Wish I had something that could alleviate your frustration and the pain you all are going through... Love what DanceMom said... be relentless, you might be the only person who will be.

God bless..
 
Maybe your son needs a pill cam and a fecal calprotectin test to help rule out crohn's. How is his weight? How about depression? Is he struggling with all this missing out on school and such? A counselor may help.

We're in the same boat with the school thing. We did take our daughter out of her private school and that decreased her stress and it is not a perfect world when I can't be home with her to homeschool and so forth :(. I hope you can find answers soon.
 
I think the reason no one is interested in thinking Crohn's is that he hasn't lost weight or growth (thank G-d!). Just the opposite, he keeps gaining weight even though he eats almost nothing. I'm thinking there's some sort of malabsorption issue going on, like maybe he's turning all his proteins into fat.

I will ask about the fecal test--that has not been done. I've been agitating for a pill cam since day one since the main problem seems to be in the small intestine where the scopes can't see.

I was told the GI was doing some sort of genetic marker test for Crohn's--is there anything definitive for that? At the time they said his markers weren't positive and I said oh okay and thought no more about it because we didn't know about the family history.
 
The available tests for serological markers for Crohns and UC are only moderately reliable so even if they were positive they would not serve as a diagnosis only one piece that was suggestive of CD. These are not genetic tests, there are no such tests that I am aware of.

Crohns is most likely a response to environmental factors that is influenced by multiple genes. The severity of the CD may vary according to the exact genotype but this is not certain at this time. Most people who develop CD have no family history although having a parent with CD does increase the child's risk of developing CD.

You don't mention test for Celiacs - is that what you mean when you say he is gluten iintolerant? Despite the fact that you don't eat grains there may be trace amounts of gluten in other foods that might explain his symptoms if he is very sensitive.

The are the eosinphilic disorders which might be an issue but I'm not well acquainted with the tests/symptoms for that. I expect someone who is will come along and talk about that if you are interested.

Has his care been supervised by a pediatric GI? Has his pediatrician been involved and ruled out other possible systemic conditions which might explain his symptoms?

IF you have not been working with a pediatric GI at a major treatment center then I would say yes, you should consider seeking a second opinion at one.

I assume he has had extensive lab work done. Were his inflammatory markers ever elevated? His eosinophils? Low iron or ferritin?

I am always reluctant to suggest or get really involved in helping someone with an undiagnosed child because the cause of their symptoms may not be a GI disorder but actually something completely different.

One child whose mother sought help because of mysterious GI symptoms, a strong family history of CD and indeterminate scope findings turned out to have stage IV cancer. Those of us on this board view the world through the lens of CD/UC. That lens is not always right.

That is why we truly need to rely on our physicians to be the diagnosticians. We cannot make ourselves into doctors or GIs.

There are excellent major pediatric GI centers in Houston and Austin both. You could go farther afield to Mayo in Phoenix or up in Rochester and there's Cedar Sinai/UCLA and University North Carolina at Chapel Hill.
 
Thanks for the website--does have useful info!

We are working with a pediatric GI--our third so far. He had eisinophils (sp?) in his first endoscopy but he doesn't measure as allergic to anything so we're not sure what that was.

He's been tested for celiac, isn't, but is gluten-intolerant as we know from diet. We are a strictly gluten-free household so cross-contamination is not a major likelihood.

Turns out the only "Crohn's" tests that were done were for inflammation--sed rate and something else. Everything I've read suggests the genetic tests aren't really useful, sigh.

It's hard to suspect some other underlying disease because of no weight loss and otherwise good health. We have wondered about underlying infections like Lyme's, maybe, but again it seems like he'd be having other symptoms besides GI if he had a chronic infection.

We have a GI appt again in two weeks (it's so frustrating waiting and waiting!) and I'm hoping to come in with a list of tests to ask for. Meanwhile, erratic appetite, depression, sleeplessness due to pain, and missing school. This has been going on since January! I don't mind doing whatever needs to be done for my child, but it's hard having no guidance as to what is wrong or what he needs.
 
Given that you are on your 3rd ped GI it seems unlikely that all 3 would have failed to find CD if it was there. Not that it couldn't happen, just seems pretty unlikely.

I think if someone has done a fecal calprotectin, checked his iron and ferritin along with the usual CBC w/diff and no one can come up with inflammatory numbers then you should consider seeking help at UNC Chapel Hill on the theory that he has a functional GI disorder of some kind (or more than one), an area in which they have expertise.

They are perfectly capable of diagnosing CD as well should it turn out that CD is the right diagnosis after all.

You might also want to do a trial of EEN (exclusive enteral nutrition) to see if this relieves his symptoms. You would need to do it for a minimum of 2 weeks. Many children with CD get significant symptom relief within 2 or 3 weeks of starting EEN.

IF you don't want to do that then I would start keeping a careful record of what he is eating, pain intensity/frequency, # BMs and whether they are D or C or normal, when he is unable to do normal activities, when he is awakened from sleep by pain.

This kind of record can be very helpful to the doctors.
 
Thanks for the info on EGIDS! This is something I'll have to look into more. He does continue to have reflux and low motility and the reflux was not helped by any of the reflux meds. RIght now we are sulking over latest no-information-received test, the contrast MRI, and after 9 months of this, he is exactly the same, if not worse.

We had one GI doc when he was young, when he flared up again this year she had a 3 month waiting list (the joy of living in Austin), so we went to San Antonio, and that doctor suddenly decided to close his practice right after we starting seeing him. So yes we are on our 3rd but not because of them not finding answers. We like the new doc but are feeling like we have hit the wall in what GI tests can do for us, at least what's been suggested to us.

He's not going to school because he's in too much pain most days. So far no one has been able to give us anything to stop the pain.
 
Sorry to hear your son is still suffering. It is so hard to watch. I just wanted to mention that my son never lost weight (in fact he was a bit overweight), he continued to grow and never had constipation or diarrhea. The only symptom my son had was bad tummy aches which stopped him going to school - although they would disappear completely for a few weeks here and there. It took us a year and a half to get him diagnosed.
The only test that ever showed up any inflammation was the faecal calprotectin - his blood tests were also all normal (and still are). Our pediatrician actually apologized to us and said he would never assume about Crohns again.
Hope you get some help soon.
 
Hi and welcome. You story sounds like mine from 4 years ago. My son Danny is also undiagnosed, although the GI does write Crohns for school accommodations. Can you enroll in a public school which then may be required to provide home instruction? Danny was on home instruction for 3.5 years. 1 year he was too sick to even do it at home. Danny also gained weight when at his sickest. My link in the signature will give you an idea of all the doctors and testing we have done. Danny is 16 now and MUCH improved ... although daily diarrhea and constant abdominal pain is something I wish he did not have to live with. Good luck!
 
Still no specific answers but we did get fecal calprotectin done--waiting for results. Got referred to a motility expert (yay!) and just saw pediatric neurologist. Hoping we'll get some answers soon. Meanwhile, tramadol is giving some pain relief.
 
Now they are saying he has "functional gastrointestinal disorder" and referring him to pain management. Neurologist suggested different mix of psychiatric meds.

I guess that's good and all but I don't understand why, if it's functional, he started having it all the time constantly 10 months ago when he wasn't before that... and will it stop as suddenly as it started? Or is this it for ever?
 
Hi ... I feel so disappointed for you. I hope your son can find some treatment that helps. There are things that doctors just do not know ... my son's pain is constant too - but MUCH milder now. Does your son's pain move or is it in the same spot all the time?
 
Hi there, so sorry to hear about your struggle. Your story made me think of my sister in law with her daughter. The symptoms you described were similar, constipation for one. And she had white patches on her esophagus which we're seen with an upper GI exam. As a baby my niece had very bad reflux and could only take the hypoallergenic formula. She has been diagnosed with a disorder called Eosinophilic Esophagitis. She did a food sensitivity test and then an elimination diet. Taking out the eight highly irritating foods (google for the list thu you prob already know them) did help her heal quite a bit. It's been about eleven months and she's added back in several of the foods. One major discovery is that she is allergic to all meats and animal byproducts. It's been very hard since my niece is only 7 with a kid palate, but a vegan diet has really helped her (in her case grains are fine). I know it's such a difficult process to figure out what's wrong and each person can have different sensitivities. My prayers are with you!
 
Thank you! He is actually feeling better now. He started a free (!!!) pain program here for kids with functional gi disorders where they do counseling and hypnosis and it is helping, also I think all the supplements and probiotics are starting to build up. We just got tests back from our nutritionist / functional medicine doc and big surprise, as in I am not surprised at all, there is a bacteria called something like klebsiella which shouldn't be present but is. So we have to figure out how to treat that. One step forward, two steps back. But he is back in school part time, so we are ecstatic over that.
 
Klebsiella can cause a lot of issues. I hope they treat it and he is 100% better! Glad he is back at school at least part time. hopefully he will continue to feel better.
 
rivitex,

I empathize here. I walked in your sons shoes and hit brick walls. Doctor after doctor gave misdiagnosis. I was an overweight child (teenager), too. I suffered from constant diarrhea and fatigue growing up.

Diagnosis from Quacks?

Irritable Bowel - Wrong
Rapid Gastric Dumping - Wrong
Gerd - Wrong

So on so forth.

Took 20 years and a trip to Cleveland Clinic. Now after losing over 120 pounds from being massively ill, becoming anemic, being extremely vitamin d deficient, low on potassium, suffering from 15-20+ kidney stones ranging from 1/4th to 1/2 inch, and a whole host of other problems....

I got a diagnosis. Cohn's Disease.

I guess what I'm saying here is please don't ignore your son's complaints. Doctors aren't miracle workers. I wish I'd gotten answers from the start. Now I have an uphill battle of making poor health semi tolerable.
 
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