How Important Is The Diagnosis?

[M0Mto3]

We just ended a gluten trial and it was awful. DD, who is now just 16 months old, went back on gluten for 2 months after being off of it for 3 months. She did not tolerate it well and by the end was having 4-6 bms a day and was absolutely miserable. She was already diagnosed failure to thrive and her weight % dropped even further. So, every one (pediatrician, peds GI, us, and her babysitter) that she can not have gluten. But, her bloodwork came back negative for Celiac's. I am sure that is what she has. My husband has type 1 diabetes, so she is at risk just based on that. The GI doc will not diagnose her with Celiac's. Essentially, he has never seen a baby have trouble with weight gain because of gluten passing through breastmilk. Her issues with weight gain started before we introduced solids.

Here's the thing, with a diagnosis of gluten intolerance I know he is going to want her to do another gluten trial again some day. I am 100% sure she has celiac's and I will not do that to her again. It is heartbreaking to think that I put her through that for nothing. I considered pushing it and even thought about trying to get him to do a scope anyway, but after talking with her ped we decided that more than anything else she just needs to get healthy. So, I know that come time for school we need a diagnosis of some sort. I would love to hear stories of parent's whose child did not have positive bloodwork and how they got a diagnosis. I know that we are missing our window of getting a diagnosis right now, but I just want her to be healthy. Also, my ped did not want to see her go for a scope, anyway. Being so tiny makes it risky to go under for anything.

[mushroom]

So pesumably they ran the IgG tests since she is IgA deficient. Did they run them all - tTG, EMA, DGP? And were her results definitely in the negative range and not in the middle range of neither positive nor negative?

If the above is true, what you have is a symptomatic child with failure to thrive, who reacted negatively to a gluten challelnge (i.e., was miserable and her weight dropped even further); you have a familial risk factor, and you have a GI who does not know that gluten passes through breastmilk. She responds well to a gluten free diet, I am assuming. The only other thing you can do at this point, apart from the endoscopy which you have ruled out because of her size and the stress of the procedure, is have the genetic testing done to find out if she carries the predisposition for celiac disease. If so, you would have the following evidence:

Celiac symptoms

Resonse to gluten free diet and symptomatic response with gluten challenge

Genetic predisposition

Some doctors will give a diagnosis based on these circumstances - some will not.

Now, that is all lthat you can do, apart from seeking another opinion from a celiac expert pediatrician, other than take her gluten free and let her recover. Face the other hurdles down the road as they come up. By then they may have other tests which will not require poisoning her to run them. But the important thing now is to get her healthy and growing.

Good luck, mom

[GretaJane]

Check out the new test that does not require going back on gluten! See the thread under the coping section.

[domesticactivist]

Get a copy of all the tests that were run and post them for interpretation by the smart people here. If they look positive it may be possible to take them to another gi and get the disgnosis. False negatives are more common in children, btw.

Another possibility is that the damage being done is not autoimmune to the villi in the small intestine. There are other forms of gluten intolerance which can be just as serious.

The problem you may encounter without the diagnosis is that if you use the school system they will only have to accommodate your child's needs if you have that label. There are several threads about these challenges from kindy to college that you may want to read.

[salexander421]

Check out the new test that does not require going back on gluten! See the thread under the coping section.

I just read about this last night. I'm not sure if it's available yet but it is definitely good news for everyone in this situation! Open Original Shared Link

[M0Mto3]

Wow, that study is the exact light at the end of the tunnel I needed to see. She is still so young that testing like this will hopefully be utilized more by the time it is important for her.

So, I tried to post her bloodwork awhile back and I acidentally deleted my post (grrr...). Here goes...

She isn't IgA deficient (low, but not enough to be deficient). Here IgA was 23 reference range 26-74.

So, her AGA IgA was 15.5 with normal <20

AGA IgG was 14.8 with normal <20

These were the only blood tests that her GI doc ran. Her ped ran a tTG when she was 10 months which was 2.1 normal <20

She has also had some other funky bloodwork in the past, including her platelets being elevated every time she has had a cbc. Her ped wrote it off as a response to some viral illness we may not know she is fighting. She was definately not sick for at least one of these times. Anyone know if platelets elevate when consuming gluten? I would think so if your body is constantly in a state of immune reaction.

I do realize that there are other gluten intolerance issues, but I just find it hard to believe with the strong genetic predisposition that she has that she doesn't have Celiac.

[mushroom]

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She isn't IgA deficient (low, but not enough to be deficient). Here IgA was 23 reference range 26-74.

May I say that I think that is typical 'doctor speak'?

If normal is 26-74, and your daughter is 23, she is not low, she is deficient. Low would be 26, 27, 28.... But 23 is clearly deficient. IMHO, if you are basing her results on IgA readings when she makes abnormally low levels of IgA, the testing is not valid and they should run the IgG versions. IMHO only. What is the point of setting normal ranges if you ignore them? These numbers are based on hundreds of thousands of tests and your daughter falls outside these limits. We can debate endlessly on how low should be considered low, but if it outside the norm I personally would consider it to be low.

As an an example, my MCV on my blood tests was typically 101 or 102, when the normal cut-off range was 98. My PCP said that was okay. But I felt awful. I made her test my B12 and folate, and both of these were at unacceptable levels. Taking all three readings together she decided I had pernicious anemia. The three points above normal was significant.

[Skylark]

She isn't IgA deficient (low, but not enough to be deficient). Here IgA was 23 reference range 26-74.

Whether or not her doctor considers her officially deficient, she does NOT have enough IgA for a celiac panel to be accurate. I saw someone else recently whose doctor said their child's IgA had to be below 21 for deficiency. It may be that the reference ranges are not very good, like TSH.

Here's the thing. If there isn't much IgA, deficiency or not, the signal on the specific tests like TTG will be artificially low. The test she needed was TTG IgG, although the negative AGA IgG suggests she isn't making detectable celiac antibodies yet. This doesn't mean she isn't celiac - it's hard to get positive tests in kids under 2.

[salexander421]

Wow, that study is the exact light at the end of the tunnel I needed to see. She is still so young that testing like this will hopefully be utilized more by the time it is important for her.

So, I tried to post her bloodwork awhile back and I acidentally deleted my post (grrr...). Here goes...

She isn't IgA deficient (low, but not enough to be deficient). Here IgA was 23 reference range 26-74.

So, her AGA IgA was 15.5 with normal <20

AGA IgG was 14.8 with normal <20

These were the only blood tests that her GI doc ran. Her ped ran a tTG when she was 10 months which was 2.1 normal <20

She has also had some other funky bloodwork in the past, including her platelets being elevated every time she has had a cbc. Her ped wrote it off as a response to some viral illness we may not know she is fighting. She was definately not sick for at least one of these times. Anyone know if platelets elevate when consuming gluten? I would think so if your body is constantly in a state of immune reaction.

I do realize that there are other gluten intolerance issues, but I just find it hard to believe with the strong genetic predisposition that she has that she doesn't have Celiac.

I agree with mushroom, her IgA is below the range so in my opinion (not a doctor) that would be deficient so you would want to look at IgG numbers instead. That being said, these tests are not enough to rule out celiac...you don't actually have negative blood work, you have insufficient testing. It's so frustrating relying on doctors. We did a gluten challenge with our 2 year old and it was miserable, after the 3 months our GI didn't feel there was enough evidence to do testing. I was tired and ready for my girl to be back to normal so I didn't push. Now we're at that place where we STRONGLY suspect celiac but she's on a gluten free diet and there's no way I would poison her again just to push for testing. Hopefully this new way of testing will be the answer that those in our positions are looking for!

[M0Mto3]

Honestly, that was my intial thought too. I scoured resources talking about IgA levels. I also find it interesting that at 10 months her IgA was 21 and the norm was 19-5?. So, the norm for her age went up 7 units and her IgA only went up 2 units in that time. Makes me wonder if it will continue to go up or if it will level off way before it should...

The other thing that I thought was interesting is that even for having such a low IgA, she still had a 15.5 AGA IgA. It isn't a 20, but wouldn't it still make you wonder if her IgA wasn't so low if the AGA IgA would have been over 20? She was also only back on gluten for 8 weeks and I probably could have given her more gluten. It was really hard to give her tons of something that made her so miserable, so I didn't overdo it. Plus, if she had a really bad few days I would back off for a few days.

[beebs]

I just read about this last night. I'm not sure if it's available yet but it is definitely good news for everyone in this situation! Open Original Shared Link

BRILLIANT - this is so fantastic. I hope they start using it here and soon!

[Notso]

Your little one sounds so much like mine! Harper was diagnosed with failure to thrive at 6 months, but we ignored it since my other daughter (and I) are so small and she had been crawling so much. At 12 months, I knew something was wrong. She had only gained 1 lb in 6 months, nursed 12+ times a day, pooped mucousy undigested food 5 or 6 times a day, and screamed CONSTANTLY. When she went for her appointment they tested for a ton of stuff. Her bloodwork was negative for celiac, but was indicative of some metabolic disorder. We also discovered she was anemic (even though taking iron supplements). Our doctor did not want to rule out celiac and told me that the blood tests are only about 50% accurate in the under two set. She made an appointment for us with a pediatric gi. Since they could not see us for three months, I have four cousins with celiac, and Harper was so miserable we decided to start the diet. Our doctor wan't comfy with the scope either. Harper gained 5lbs in a month. When we finally got in with the gi, he did chide us for starting the diet, but he also ran a genetic panel and when she had every copy of the celiac gene he went ahead and diagnosed.

It is my understanding from discussing with our pediatrician, that not having an official diagnosis would not matter much. She did not think the schools would require it to accommodate Harper. Also, fewer accommodations are needed when the kiddo is old enough to wash their hands before eating and question what is put in front of them.

I've been where you are, and it is awful. I hope you can get the answers you want and your kiddo will feel better soon! Harper is 20 months old, and has completely caught up!

[M0Mto3]

Thanks, that is wonderful to hear. I do wish that he would diagnos it based on the genetic test, but he is not willing to do that. I know it is silly to care about the official diagnosis, but I hate saying "We think she has Celiac's". At this point I am really leaning toward taking her to the Celiac Center at CHOP. I am waiting for a call back from them to talk before I schedule and appt and drive all the way down there. I would rather deal with the doctors that see tons of kids with Celiac daily then one who has had a handful in his entire practice.

It is nice to hear of other little ones whose symptoms were so similar to Juliet's. Thanks!