Need Help For Possible Celiac Child

[jaggirl47]

Hello everyone. I am glad I found this forum so I can pick the brains of everyone here

 

I have a 13 year, 8 month old son that I strongly suspect to have Celiac. We have had issues from the time he was a few weeks old. I will start from the beginning and run through everything.

 

When my son was born I began with regular breastfeeding. After about 2 weeks we began having multiple problems. He had severe colic and would stay up days at a time screaming, day and night. After speaking with the doctor and lactation consultant I did a very strict elimination diet for myself to attempt to find what I might be eating that could be causing the issues. Nothing helped. One night he ended up turning blue and we ended up in the ER. Not only did he have colic but he would projectile vomit every day on top of it. He was hospitalized and his blood work was done as well as testing for pyloric stenosis. Everything was normal so we were released with no answers. We were referred to GI and they gave a presumptive diagnosis of GERD. He was given reglan, zantac, and Prilosec, each med resulting in allergic reactions and doing absolutely nothing for the issues.

 

The doctors then informed me that they felt he had severe lactose intolerance to the lactose in breastmilk and they wanted me to try a lactose free formula. We started of with a regular lactose free formula and it caused the projectile vomiting to get worse. Then we were switched to soy formula. He continued to projectile vomit and broke out all over his body with a severe eczema rash. He was then switched to Nutramigen formula and it worked great. The projectile vomit stopped and we were able to clear up his eczema finally.

 

We had continuing issues every time we introduced new foods as well. Cereal caused vomiting and rash and we ended up having to introduce fruits and vegetables earlier than we would have liked.

 

From age 1-2 we followed doctor recommendations and gave lactose free milk after formula. During age 2 we slowly introduced regular milk as we were told many kids outgrow lactose intolerance. My son did actually do really well with regular milk.

 

Even with all these issues my son continued to grow and was between the 95th-97th percentile for both height and weight.

 

At 15 months my son had to have ear tubes for recurrent ear infections. He was also found to have severely swollen tonsils from the age of 9 months. We were told the tonsils would end up decreasing as they age (more on this further down). Even with ear tubes my son would continue to get severe ear infections and his tympanic membrane would rupture each time. From age 9 months to 3 years he was diagnosed with RSV and pneumonia 3 times in addition to constant bouts of bronchiolitis. He was hospitalized each time he had RSV.

 

From the age of 3 to 5 we continued to have more issues with ear infections, strep throat, tonsillitis, etc. He had severe sleeping issues and they diagnosed him as asthmatic because of his sleep apnea and history. He didn't have asthma at all. He actually had kissing tonsils from the age of 9 months and he would get a bout of strep throat every other month. He finally had his tonsils and adenoids removed at age 5 after a severe case of scarlet fever. 

 

From 3-5 we also noticed he basically stopped growing. He grew a total of 1/2" and 1 pound in those 2 years. The doctors never even noticed and I had to fight them to look at his growth chart. He had dropped from the 97th percentile to the 25th percentile during that time. They finally sent us to endocrinology to get a work up for growth hormone deficiency. He has been tested multiple times over the past several years and it is always negative.

 

At his last endocrinology appointment this past November his total growth over 2 years was 1 1/2" with zero weight gain. His hormone tests show he is not in puberty nor is he even close to starting. He is currently in 8th grade and begins high school next year. We continue to be told over and over again to just wait and see. By now he was in the 4th percentile for weight and not even on the chart for height.

 

After doing more and more searches to try and find something for my son I came across the Celiac information. He has had or now has the following symptoms:

abdominal pain (without bloating), vomiting (younger age, occasionally still), constipation with greyish stool (sometimes green), fatigue, irritability and behavioral issues (IEP at school for dyslexia, dyspraxia, dysgraphia, ADHD, and severe executive function disorder), dental enamel defects (his 6 year molars have severe defects in them), delayed growth, delayed puberty, short stature, failure to thrive, migraines, joint pain, canker sores, and I'm sure there are many more I am just forgetting right now. 

 

His pediatrician (not his endocrinologist) ordered him the Celiac panel in January after I requested it. His blood panel came back completely normal and his doctors refused to even listen to the possibility that it may not have been accurate. I found out after the test that he was supposed to be on a heavy gluten diet prior to the test and we never did that. He was getting gluten but not the recommended amount to take before the testing.

 

The pediatrician recommended just trying gluten free for the month of February to see how my son did. We started February 1 and he had a 1 month height and weight follow up on March 2. We saw immediate changes in many things with him and within 3 weeks we noticed his attention span has increased and he was happier, not as grumpy. He did not gain any weight but he didn't lose any either. In one month he grew just over 3/4" which is what he grew in one year previously (no he still is not in puberty either so it's not a coincidental height gain). After seeing this our pediatrician is now changing her tune about the possibility of a false negative on his blood test and is sending us to GI. We see them on March 9.

 

My son is now on a total gluten free diet and starting to thrive on it. Should I request the genetic test to see if he carries the gene prior to putting him back on gluten and requesting and endoscopy? What should I ask the GI doctor? I want to make sure I don't miss anything.

 

His current height is 4' 10 1/10", current weight is 78lbs, and he will be 14 in July.

 

Another thing to add is he used to get daily headaches with migraines 1-2 times weekly. He has had zero migraines since removing all gluten from his diet.

 

 

[greenbeanie]

Welcome to the forum! I'm sorry I only have a minute to respond now - there's clearly a lot going on with your son, and I'm sure you'll get good advice here.

 

I've just read through your story quickly, but it sounds VERY, VERY similar to what we went through with my daughter early on - from the extreme fussiness and screaming as a breastfeeding infant (starting a few days after birth), to all sorts of specialists and unclear diagnoses as an infant, to projectile vomiting without pyloric stenosis, then worsening on milk-based formulas but immediate and dramatic improvement on Neocate formula and then a return to the previous problems when she began solids, and even the high percentiles in the growth charts as an infant and toddler! She did have high positive celiac tests (all three tests they ran) at age four, and a biopsy that was positive but showed relatively mild damage (less than expected based on how high her blood tests were). She'll be six in a few months and is absolutely thriving on a gluten-free diet now. 

 

If you click on my profile and select "Find content", you can see some of the posts I wrote a while ago about many of the issues you mention. Sorry I don't have time to copy specific links here now...I'll try to come back later and do it.

[jaggirl47]

Thank you! I will start picking through your info. I am trying to absorb info and make as many notes as possible so I don't miss a question on Monday.

[cyclinglady]

I am short on time too! Here is the list of the complete blood test and endoscopy exam and biopsies. Often docs order a smaller celiac blood test to save money, but then they do not catch everyone (like me!):

tTG IgA and tTG IgG

-DGP IgA and DGP IgG

-EMA IgA

-total serum IgA and IgG (control test)

-AGA IGA and AGA IgG - older and less reliable tests largely replace by the DGP tests

-endoscopic biopsy - make sure at least 6 samples are taken

Check out the University of Chicago's celiac website for lots of information. He needs to be back on gluten (1 to 2 slices of bread per day) for a few months for the blood test and just a month before the biopsy. Going back on gluten (I know, awful!) might be your best bet for getting a firm diagnosis. I can not believe that your Ped never caught this!

Welcome to the forum and let us know how it goes!

[jaggirl47]

The gluten panel they did (we are military and it's like pulling teeth to get much done with Tricare) is as follows:

 

Test                         Result               Ref Range

Gliadin Ab IgA         1.6                    >7 neg, 7-10 equ. <10 positive

Gliadin Ab IgG         0.9                    >7, 7-10, <10

TTG IgA                   0.5                    >7, 7-10, <10

TTG IgG                   0.9                   >7, 7-10, <10

 

I requested for him to be tested for IgA deficiency after these and his test results were 131 with a reference range of 100-400. 

 

We are not what I would call heavy gluten eaters but we never restricted gluten either. My son isn't a big bread eater and refuses cake and other items like that on his own. However, reading info I am prone to believe that these may be false negatives because we did not overload on the gluten. He eats more rice than anything else.   

[cyclinglady]

Read some of the threads in the Kids section of the forum. We have several families who tested negative but thrive on a gluten-free diet. Since your son has improved so much....might be worth sticking to to the diet and possibly allowing for him to grow!

[jaggirl47]

The big problem we have is unless he is actually diagnosed with something the schools do not have to follow it. I am still not convinced that the blood tests are accurate, especially after searching the site and finding many members that were negative on blood tests but positive on biopsy.

 

Would it be worthwhile to do the genetic test and then if he comes back as positive for that overload the gluten and biopsy him?

[greenbeanie]

I went back and found a few threads that may be relevant. Most are focused on younger kids, but some of the issues are still the same:

https://www.celiac.com/forums/topic/109699-trying-to-figure-out-my-4-year-olds-joint-painbody-pain-issues/

https://www.celiac.com/forums/topic/107784-celiac-in-11-month-old/

https://www.celiac.com/forums/topic/107718-organizing-my-thoughts-for-the-doctor/

https://www.celiac.com/forums/topic/107160-doctor-refuses-to-test-6-year-old-what-would-you-do/

In terms of genetic testing, my thoughts on that may differ from what other members would recommend. Since my daughter's celiac panel and biopsy were positive, she had a firm diagnosis so we did not consider the genetic test for her. However, I was also like a walking textbook case of celiac (except that I was always a tall kid too), with symptoms going back to early childhood. When my daughter was diagnosed, everyone - including all my doctors - thought for sure I'd test positive too. Right before my biopsy, though, I had the genetic test and it showed that I only had one allele of the common DQ2 celiac gene. The genetics is complicated, but with the other allele the upshot is that I have the DQ7.5 gene (which is recognized among some celiac experts as another celiac gene but isn't generally considered one in the U.S.), but only half of a more commonly-recognized celiac gene. As a result, my doctors stopped taking the possiblity of celiac as seriously. Despite assuring me repeatedly before my biopsy that she's take "plenty" of samples, my GI only took four, with none from the duodenal bulb and no lymphocyte counts, because the genetic tests essentially led her to look elsewhere (even though there are documented causes of celiac with just one allele, and with DQ7). I suppose the genetic tests may be helpful if everything else is negative, but I'd push for a biopsy first.

[nvsmom]

Welcome to the board.  

 

Your poor son.    He's had quite a go of it.

 

Those Gliadin Ab tests he had done (AGA IgA and AGA IgG) are not very sensitive tests, they can miss more than 30% and up to 83% celiacs respectively.  Take a look at this report (page 12) from the World Gastrolenterology Report on celiac disease: Open Original Shared Link You can see that they aren't great tests.  If you do decide to get more tests done, get the deaminated gliadin peptide tests (DGP IgA and DGP IgG).  They are much better tests and are actually considered to be very good at catching early celiac disease and celiac disease in children.

 

For adults, the gluten challenge is approximately 1-2 slices of bread per day (or equivalent) for 2-3 months prior to blood tests, and 2-4 weeks prior to the endoscopic biopsy (with 6+ samples taken).  You might want to call the GI and see if he should be back on the diet for further testing (DGP tests or endoscopic biopsy).  The longer he is off gluten, the longer he will have to go back on it if you choose to have further testing done. Plus some Gastro will get their young patients in sooner if they are truly not doing well on a gluten challenge....Oops, never mind, they'll be closed over the weekend.

 

My oldest has gone through a similar experience.  He is now 12 and in grade 7.  He was colicky as a baby but had no severe GI issues.  He grew well and was in the 75th percentile for height and a tad below for weight.  That changed when he was 6 and his growth slowed; his 10 year old brother is now a good inch taller and he is well below the 30th percentile.  Also, he was a different baby though and we strongly suspected mild asperger's/autism which led us to reading about a gluten-free diet (and how I was diagnosed).  

 

We had him tested for celiac disease (only the tTG IgA was offered) but it came back negative.  I knew that test can miss up to 25%of celiacs so he went gluten-free anyways.  His behavior and emotional control issues improved a great deal to the point where we started to question the idea of autism.  He had fewer headaches and stomach issues too.  He went gluten-free almost 2 years ago, and while his growth hasn't slowed more, it hasn't caught up at all - it bothers him because he comes from a tall family.  We're now thinking there must be more because other issues have come up.  We're looking into thyroid testing an growth hormone issues.  He had a hand Xray done to see if he was just behind in bone growth, sadly he was actually ahead so that isn't it.

 

Sorry, I rambled.    My point was there are a couple of other things to look at like hypothyroidism.  Don't just go with the TSH (which should be near a 1), he also needs a free T3 and free T4 (should be in the 50-75% range of the lab's normal reference range) and TPO Ab.

 

For growth hormone issues, you do not want a growth hormone test.  Those vary wildly hour by hour because GH is released in spurts.  Even those with serious GH problems can appear normal in these tests if caught at the "right" time.  Make sure he gets the IGF-1 test done.  That one gives you an overview / average of what the GH has been doing over the last month.  You can get the GH done too, but IGF-1 will tell you a lot more.

 

... These are the tests we are looking into for my son.  Now it is just a matter of finding a doctor who will humour me and run the tests.  Sigh.

 

Good luck with the Gastro on Monday.  Try to get those tests re-run with the newer ones added on. Genetic tests won't hurt but they will only tell you if he is in the higher risk group for developing celiac disease, and most of those people will never get it.

 

Best wishes.  Let us know how it goes.

[jaggirl47]

Greenbeanie, thank you for the links. I will dig through them all this weekend and make notes with relevant info.

 

nvsmom, he had full testing, not just the standard growth hormone. Here are his test results from September. He does need more in depth thyroid testing but I'm not sure if GI will order it or if I will have to fight his endocrinologist. His bone age is 6 months behind so nothing big. His genetics have him to be 6'-6'1". Right now his "little" brother (3 1/2 years younger) is an inch taller. 

 

ILGF-1         167 ng/mL           ILGFBP-3         3941 mcg/L           ThyroxineFree         1.38 ng/dL 0.58-1.64         TSH         2.4 mcIU/mL 0.27-4.32         Testosterone         <12 (L) ng/dL 193-836         FSH       Follitropin 2.2 mIU/mL 1.5-12.4 Lutropin 1.9 mIU/mL 1.7-8.6         DHEA-S         37.17 mcg/dL           Vit D, 25-Hydroxy         29 (L) ng/mL 30-100

 

On his urinalysis in September he was found to have mucus and calcium oxalate crystals with a WBC count of 1 (range 0-2). He had a repeat urinalysis done in January. That one did not show crystals but he had mucus once again with both RBC's and WBC's noted at 1 (range 0-2). His comprehensive metabolic panel in September showed high calcium (10.3, range of 8.6-10.2), Albumin high end of normal (5.2, range 3.5-5.2), Carbon Dioxide low end of normal (22, range 22-29), Creatinine was low (0.57, range 0.7-1.3), Alkaline Phosphate high (149, range 40-129), Anion Gap high (18, range 7-16). He has not had a CBC in I don't know how long.

 

What I find ridiculous is that they keep changing what the growth concern will be. First they said if he drops to the 15th percentile they will be concerned. Well, he dropped to the 15th and we were told wait and see. It became 10th percentile then. Well, he went past 10th percentile and dropped to the 7th percentile. Then they said once again wait and see and we didn't have to worry unless he drops under the 5th percentile. In September he was in the 4th percentile and we were told once again to wait and see. By January he was completely off the growth chart. With the growth he did in February after switching to gluten free he made it back to the 4th percentile.

[nvsmom]

Wow, you've looked into a lot.  He's lucky to have you!

 

I'm not a medical expert, and am only commenting on his situation from my own research and experiences.  That being said, at first glance I would worry about his kidneys.  The doctors are happy with them?  The mucus, crystals, creatinine, high anion gap, and others seem to point at a kidney issue which can cause slowed growth.  Celiac disease can cause kidney problems.... I am not knowledgeable in this -  these are just guesses.

 

Did they check his pituitary?  That will impact many of the hormones he is low in, or low "normal" in, like his IGF-1 and IGFBP-3 which are both on the low end of normal. That low testosterone is quite extreme.    The pituitary is the master gland and could be affecting that through the adrenals.

 

His thyroxine free (FT4) looks good but his TSH could indicate his free T3 (free triiodothyronine) is a bit low.  FT# is the active thyroid hormone, and I wonder if it is a bit low because his TSH is getting a bit  high (many labs, using the same units, will have 2.5 or 3 as the upper normal limit) for someone who has a thyroid problem... which he may not be.

 

If the gastro decides to do no further celiac disease testing, it sounds like he should stay gluten-free no matter what.  Packed lunches at school and always having extra snacks so he can eat with buddies when they are out and about.  It is a hassle, but if you pack him lots of safe foods that he likes, he'll have less reason to cheat.  Thankfully, he is older so if the school doesn't accommodate him, he can still keep himself safe.

 

Hopefully eating gluten-free will continue to help. He could have non-celiac gluten sensitivity (NCGS) or serologically negative celiac disease.  Either one could contribute to his symptoms and abnormal labs.  Make sure he sticks with it for many months (6+) before he judges it's effectiveness.  Symptoms can take weeks to many months to a year or so to improve.  Going gluten-free is not usually a quick fix although some improvements may happen early on.

 

((hugs)) I feel for you.  He appears to have something up but no one has connected the dots yet.  I would guess it is more than one thing wrong but hopefully if one problem is a gluten sensitivity, it will clear up some issues so the other one(s) becomes clear.

 

Good luck with the gastro.  Go in there with your lists of tests and symptoms.  Bring in his abnormal test results.  Hopefully he can help.... Let us know how it goes.

[jaggirl47]

None of his doctors are concerned in the least bit with any of his abnormal results. The endocrinologist feels that since his IGF-1 is still in the reference range, albeit in the low normal, that there is no concern. I had to fight to get a new urinalysis for him in January. I was informed over the phone that his urinalysis was normal so I picked up the lab copies for myself. I am a nurse so I can interpret most labs, just not always what to do with the labs.

 

Unfortunately his pituitary has not been MRI'd. I fought to get it done when we started seeing endocrinology almost 9 years ago but was denied multiple times. They just recently put the order in for an MRI and he had braces put on 4 months ago. :/ I m just so frustrated right now.

[jaggirl47]

I should add too that I pack all of his lunches and snacks. His pediatrician wants him almost doubled in calories so he eats 6-7x a day. I am fighting with the school to allow him his mid morning and mid afternoon snacks. I am now waiting on his doctor to fill out a school medication form allowing food. This is a sample of his daily meal plan:

 

Breakfast:

2 eggs

bacon

toast (gluten free bread)

yogurt

fruit

whole milk

 

Mid morning snack

homemade high protein gluten free granola bar

bottle of water

 

Lunch

Sandwich with several slices of meat (non-processed/he hates toppings)

carrot sticks

2 different fruits

salad

Glutino pretzels

1% milk (only choice at school)

 

Mid afternoon snack

2 rice cakes topped with peanut butter

bottle of water

 

After school snack

yogurt

fruit

water

 

Dinner

4-6 oz chicken

rice

green beans

salad

whole milk

 

Evening snack

Peanut butter cookie (from a local gluten free bakery)

 

I have thought of adding in something like Boost fruit drinks or calorie enhancer to go with his snacks but I haven't looked far enough yet to see if they are gluten free. He is on whole milk because he needs the calories and fat. We still have to figure out how to add in another 1000 calories but I don't know if he will be able to eat that. He is so skinny you can see his entire backbone and all of his ribs, even with the amount of food I am now giving him.

[cyclinglady]

Butter, lots of it, fat bombs (Google recipe), heavy cream, cheese, whole milk yogurt.....fat is no longer the "bad guy".

[jaggirl47]

I add butter to a lot of his foods, generally after cooking because my youngest does not need the extra calories. He gets whole milk yogurt. He refuses most things cooked with heavy cream and he hates cheese with a passion. He is very picky so it tends to be very frustrating lol. He will eat peanut butter but won't touch nuts. I will definitely look up fat bomb recipes tonight to see what I can make tomorrow.

[cyclinglady]

Most of the fat bombs are for low carb folks (like me). Use real sweeteners.

[jaggirl47]

Will do! Thank you!

[StephanieL]

There are medical drink supplements that may help. My extremely thin kiddo is on something called Splash by Neocate. He's suppose to be on 3 a day but then I found he wasn't actually eating (they are also $7 per so it's not cheap).  It is an acquired taste as well. May be something to look at.

[jaggirl47]

So we just got home from our GI visit. The doctor said he highly suspects something involving malabsorption and very possibly celiac. He said just by looking at him he can tell something is wrong. While his BMI is in the 10th percentile for his height and weight showing he is not wasting away, he is extremely thin with low muscle mass overall. The doctor ordered multiple labs today and he had a total of 8 vials of blood drawn. He ordered CBC, CMP, ESR, iron panel, pre-albumin, and the genetic tests. We were also sent home with the necessary objects for a stool sample. Regardless of the results he wants to do an endoscopy to look at the esophagus, the stomach, and biopsy the small intestine. He said we are going to do a process of elimination over the next month. I guess he has several pediatric patients that are seronegative celiacs with the testing our hospital runs. We go back April 6 to go over all of the results and schedule the scope for May. He also placed my son back on gluten and he wants my son crammed full of gluten until the scope. He stated while 2-4 slices of bread is ok he wants me to have high gluten foods for every meal for him. I guess it's back to the constipation and daily headaches but it will be worth it in the long run if we get answers.