Questions About Getting A Diagnosis

[stringbean]

I've been lurking off and on for the past couple of weeks as we try to figure out why my 8-yr-old daughter cannot gain any weight. Our daughter was adopted from Russia, so we never really questioned her small size -- it could just be genetics. Two years ago our pediatrician sent us to an endocrinologist just to make sure she doesn't have any underlying health issues. She was tested for growth hormone, allergies, thyroid, etc and the test came back fine. We started working with a a nutritionist who became alarmed at how much she eats, yet continued to lose weight. She sent us to a gastroenterologist. He tested her and found she has pancreatic insufficiency and we immediately started on enzymes, but one year later she still hasn't gained an ounce. So we repeated the 72 hr fecal-fat test last month while she took enzymes and she is still malabsorbing despite medication. So now we hunt further.

I've read dozens upon dozens of posts here and recognize some of the symptoms that my daughter had. Her skin feels like sand paper; she's had terrible rashes on her bum, sometimes on her knees; she has "pins and needles" in her hands and feet; she's had joint pain; she burps loudly and often despite being on prilosec; she often had runny poops until starting on enzymes, but now she is constipated unless she takes Miralax; she passes gas; she's hyper although she doesn't really seem to have ADHD... So she had a lot of the peripheral stuff I read about here, but what she does not have is stomach pain or any clear reaction to wheat, which leads her doctors to believe that she doesn't have celiac (although her pediatrician said that 75% of her celiac patients have never complained about a stomachache -- but that's what they keep looking for...)

Since her bloodwork does not indicate celiac, her gastro doc was hesitant about doing an endoscopy, but finally felt he had no choice. So I'm wondering if the biopsy is the definitive test. I know that if the biopsy shows damage to the villi, she most definitely has celiac. But what if the biopsy doesn't show damage, does that definitively mean that she doesn't have it? Is the damage universal or is it possible that the section that was biopsied looks healthy, yet the section next to it may have some damage? If the biopsy comes out clear, is this a test that would be repeated in the future, or if she's fine now does that clear her forever? I know that her endoscopy did not show any ulcers or other obvious damage, but it will still be a few days before we get the results of all the biopsies (the doctor ordered several, but I have no idea what he is looking for.)

Because she is so severely underweight, her doctor is against the idea of just starting a gluten-free diet just to see if it works. Pasta is her favorite food and if we eliminate gluten, she'll be eating grapes and steak! We may end up doing it in the future, but he wants to hold off before agreeing to restrict her food intake in any way...

Any questions I should be asking the doctor when I talk to him? I am completely out of my element with this -- I've been reading quite a bit about cystic fibrosis that she wasn't, then she was, then she wasn't diagnosed with... But I'm not at all up on celiac so any insight anyone can offer will be most appreciated!!!!

Thanks so much.

[AmyT]

I am not sure if you actually need a diagnosis, but you might just want to give gluten free a try. My daughter had a few of the same symptoms your daughter has such as really dry sand paper skin, random diahrea and constipation etc. Nothing consistent enough to wonder, but overall greatly improved by going gluten-free. We have all gone gluten free, thanks to me! But both my daughter 11yo and my son 9yo are benefiting greatly. After 5 weeks, my daughters hands are still dry and nasty so we are limiting milk. Not all milk, ie: cheese and yogurt, but skim etc. It seems to be helping! She is heartbroken that she can't have milk but it is certainly helping her hands. It is very dry and wintery here, so that might be an issue too, and she has to wash her hands a lot.

There is nothing wrong with gluten free noodles, Quinoa noodles are great. They taste just like the real thing, and actually more nutritious, Tinkanyada has great pasta too. My son 9yo is very picky and he has not complained once! I even think he is getting less picky since being gluten-free!

I have found that you can not tell Drs. how to do their job, my Dr. was skeptical when I self diagnosed and was "negative" tTG of 3, on the blood test. He said do what works for you. I go in for full yearly physical in March and I can't wait to tell him how great I feel!

Good luck! You are the best person do know what is right for your family.

[mygfworld]

My daughter was also not growing, rashes, massive diahrea, diaper rashes that never heal, huge appitite, always hungry etc. Drs never wanted to test for celiacs,although ih

have it. Finally she got a biopsy which came back inconclusive. Against drs wishesi made her gluten-free/cf. She reacted positvily to the gluten-free diet. Dr finally agreed after 6 mths or so. Now she grows although she still a little small. The rashes and behaviour are better. Not a single negative for making her gluten-free except for not having the positive biopsy results.

Good luck with the biopsy results.

[ryebaby0]

To answer your question, it is unlikely (but not impossible) that both the blood work and the biopsy would be negative if she is celiac. You are correct -- a endoscopy could miss a "celiac" spot in favor of a "normal" spot but remember they are in fact looking through the scope to find likely areas of damage and biopsy those, and they will take several biopsies from different sites in addition to photos. (Or at least that's how it's been for us. My son has had 6 or 7 endoscopies -- not the norm, for sure)

My husband gained 18 pounds after going gluten free. My son gained, in the months after dx, about 30 but he was severely underweight so that amounted to becoming normal-but-thin .

Barring any other course, the pediatrician, dietician, or peds GI can prescribe a supplement called Peptamen Jr. Tastes like a blah melted vanilla milkshake, although it is often given via tube feedings (nose/throat). My son drank 8 cans a day for about 3 weeks. (Ensure is similar, but it tastes bad and isn't as balanced; it's very high in protein which is hard on a delicate system)

[Wolicki]

Another challenge is that only celiac, not gluten intolerance, would show up on a blood test or biopsy. The symptoms can be the same, but no test is conclusive, other than positive dietary response. Give it a try, even if the biopsy is negative.

[GFinDC]

An endoscopy can only reach the beginning section of the small intestine (duodenum), so if the damage is further down they won't see it or be able to biopsy it. Sometimes the docs do a camera capsule endoscopy that allows them to see further into the intestine. They can't take biopsy samples with the camera though.

So, it is very possible for the endoscopy not to show any damage, and yet there could be damage just around the next corner in the intestine.

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[ryebaby0]

On several occasions, my son's endoscopies included views of the entire ileum (so I suppose technically they were endoscopy/colonscopies). Once they have you "out", they will do what is sensible. Celiac is typically confined to the small intestine and that's why typically only an endoscopy is required.