Genetic Test Results - 4 Yr Old

[jeslk]

I was diagnosed with celiac two years ago.  My primary doc did genetic and general celiac panel for the initial diagnosis, which was then confirmed by biopsy.  I have silent celiac so I've have never had a physical symptom / reaction to gluten.   I have had two types of cancer, though, and am not convinced there isn't a link.  I've been entirely gluten free since diagnosis.

 

My 4 year old daughter's pediatrician ordered blood work last month and included a test for celiac, which was negative.  She did test positive, though, for both DQ2 AND DQ8.  I am trying to research to find out the likelihood of her getting celiac down the road, and can't find much info.  

 

For those of you with family histories - did you keep your little one off of gluten before they were diagnosed, as a preventative measure?  She doesn't have reactions and the test for celiac was negative, so I don't want to worry unnecessarily but also want to do what's best for her.

 

Thanks!

Jess

[StephanieL]

In our family it is my oldest who was dx at the age of 3.5 (he's now 6.5).

 

I have 2 younger kids who are 4 and 18 months. Our 4 year old was tested after being exposed to gluten over months at preschool and was negative. They are all gluten free at home for safety and my sanity. The 18 month old is gluten free except for what may be passed through my breastmilk.  He won't get gluten till out of the house. 

Kids are just too messy with crummy, gluteny things so this is what we have chosen.  We have other actual allergies (peanut, tree nut, dairy, egg, banana and blueberry) none of which we let the kids eat in the house.

 

Oh, and our GI didn't even do the genetics. She's confident they all have at least one of the genes so it won't tell us anything we don't already know which is to test every 3 years or if there are any signs of issues.

[jeslk]

Thanks Stephanie!  My daughter's doctor called this morning and said he strongly urges us to switch her to gluten free.  Turns out she has all eight (when you count the sub-markers?) of the genetic markers and so he said there's a much higher likelihood of her developing celiac in her lifetime and that by the time there's a biopsy diagnosis damage will already be done.  My husband and I have just started to talk about it, but given my health issues that may or may not be related to celiac, I don't think we want to risk it.  It's not going to be easy - the kid likes her bread, pizza and mac and cheese!

[StephanieL]

If gluten is the "only" thing you are avoiding, you can find subs for pizza and mac n cheese pretty easy!  You can do it Mama!!

[pricklypear1971]

My son has few markers compared to your daughter - but is IMO, symptomatic. He has tested negative on blood and biopsy.

Our house is gluten-free (except lately, when I let him have gluten at home - and now that's over) and he's become accustomed to the diet. If he went gluten-free now it would be so much easier than if I did it in the beginning, when I was learning. He's tasted gluten-free cooking, decided what he lines/dislikes...so that battle would be over. The hard part would be getting him to voluntarily be gluten-free away from home.

So, I don't have answers. But I do know the child must be on board. If she won't do it (because she feels no adverse effects) then it may be difficult.

[wmramsel]

I might be wrong, but I thought if they have the genetic markers but are not symptomatic, you SHOULD feed them gluten.  Again, I could be misunderstanding....

[StephanieL]

I might be wrong, but I thought if they have the genetic markers but are not symptomatic, you SHOULD feed them gluten.  Again, I could be misunderstanding....

I think it depends on the Dr. you see or the research you read.  Just because you have the markers does not mean you will ever have an activation of the disease. Just as many people have cancer genes but it doesn't mean they WILL get it.

[wmramsel]

I think it depends on the Dr. you see or the research you read.  Just because you have the markers does not mean you will ever have an activation of the disease. Just as many people have cancer genes but it doesn't mean they WILL get it.

 

Gotcha.  Seems like everything about this disease is "it depends."  

[pricklypear1971]

Gotcha. Seems like everything about this disease is "it depends."

More like "incomplete information" than depends, IMO.

There are numerous studies in various aspects of celiac disease...but the more you read the more you realize most of the studies have skewed participant bases (because they're based on Celiacs who were primarily dxed based presenting with outdated criteria like "must have D", etc.". Then, you look at sample size, and dropout rate, then the term "statistically significant" creeps in.

All of these criteria are typical for medical studies; however, if there's one thing AI diseases are NOT - it's typical.

So, what you're left with are mostly studies on Celiacs who presented with "typical" celiac disease, tested positive on blood and biopsy (which isn't always achievable), and who are probably not "super sensitive" and can tolerate a degree of tinkering by medical professionals: being able to successfully change diet, successfully tolerate a gluten challenge, etc.

And in children....wow, the skew just gets more extreme since its harder to get an early + on blood work and that trickles down to fewer biopsies...which trickles down to fewer dx.

Then introduce NCGI....which helps but muddies at the same time. There are probably quite a few Celiacs carrying the NCGI label because one or more tests were -. Sometimes testing was done well, other times it was done poorly or not at all.

Gluten sensitivity dx and understanding is abysmally incomplete. More is known each day....but it's slow.

IMO what is REALLY needed is a test that can be performed WITHOUT a gluten challenge. Since medical advances and understanding of gluten sensitivity are on fast-forward these days, and the only way to manage gluten sensitivity is a gluten-free diet...retesting or investigating where an individual falls (Celiac or NCGI) requires a cruel and destructive event - a gluten trial. Not many are willing to do this. So, the already dxed (with a wealth of knowledge and successes and failures of the diet, lifestyle and challenges) are reluctant to undergo repeat testing.

Most of the best study participants don't wanna do it. And I am one of them, and I don't think any of us are making the wrong decision.