Genetic Testing Question?

[sarahelizabeth]

I am curious how much genetic testing really tells you about celiac. From what I am gathering here there's a large percentage of the population that has celiac genes and are not necessarily celiac?? What is the point of paying for the testing if its not telling you anything for certain??

I ask because our family is currently going through testing. My youngest son was tested about 2 months ago because of GI and growth issues and came back negative. My older son is going to be tested in two weeks because of growth delays (he hasn't grown at all in the past year and has dropped from the 50th percentile in height at age 2 to the 25th at age 3 down to the 10th at age 4 and how he's hoovering around the 5th percentile at 4years 4 months) and chronic ear infections but has no bowel issues aside from occasional constipation. I went in to the Dr's yesterday and was tested primarily becuase of my children's history BUT I do have long history of IBS symptoms, infertilty, headaches, dental problems (20 cavities since having my first child 4+ years ago), chronic fatigue, etc (could go on)... of course any one of those symptoms can be explained by something else and doesn't **have** to mean celiac. I am still waiting for my results.

I look back at my youngest son who is showing the most clear symptoms right now but came back negative and wondered if genetic testing would be prudent but now I am wondering if there is a point? Do I request to have him tested again in the future?? Or just put him gluten-free and not worry about the diangosis (but what does that do to him later in life??) I just don't know what to think.

[Guest j_mommy]

As far as doing the diet without being diagnosed...that is totally a personal choice. I am currently have my son genetically tested. I was diagnosed april 1 and had him tested right away...he was negative. But that doesn't mean he does not carry the gene. i am having him tested b/c why have him get poked every 2 yrs if he doesn't even have the gene?! This was we will know for sure wether or not he needs to be tested every two years! I want this to be as painless as possible for him...he's 2 and have blood drawn is not a fun thing at that age....or any for that matter!LOL

[happygirl]

About 30% of the American population has one or both of the currently identified Celiac genes. JUST having the genes does NOT mean you have Celiac. But, bout 98% of diagnosed Celiacs have one or both of these genes. HLA DQ2 and HLA DQ8.

I agree that its worth it in terms of "knowing" if it could be a possibility or not. I have DQ8 and my kids will all be tested, just so we know what we are up against.

However, keep in mind, that your child may be gluten intolerant that is NOT celiac disease, and they may/may not have the Celiac gene....so, they can still be reacting to gluten, but not in a Celiac way. If in doubt (although, I would personally pursue further testing first), try the diet.

[Guest j_mommy]

Totally agree!!!! In my case it's worth it to me for my child to be genetically tested. I would rather know if he needs more testing or not. A genetic test atleast gives you a starting point!

[confused]

But remember there is a small amount of celiacs that do not have the celiac gene. I do not have the gene but i tested postive threw blood work and had elevated scrores on everything threw enterolab.

paula

[sarahelizabeth]

So my question then is... if he does have the genes do I just put him on a gluten-free diet? Or do I keep him on gluten and have him tested every year or two and wait and see if he ever shows up positive?? At what age would he likely start showing up positive?? And how much damage could I be doing in the meantime by waiting for the bloodwork to show positive??

[Guest j_mommy]

I had these symptoms for 24 years, I had my son 2.5 years ago and they think that was my "triggering" event for teh celiac. My son tested Negative(blood test)....I am going to go totally gluten free at home, but he will still get gluten at daycare. He has NO syptoms. Again this is personal choice!

I am having the test done, if he has the gene(I do realize if he doesn't have the gene it is still slighly possible for him to still get celiac.) I will probably start him gluten free at daycare too. Just to be safe. I don't want him to worry about osteoprosis at 24 like I have.(more likely for females but still possible for him). If you're child is testing negative....it's up to you and what you think is right for your child.

[sarahelizabeth]

I had these symptoms for 24 years, I had my son 2.5 years ago and they think that was my "triggering" event for teh celiac. My son tested Negative(blood test)....I am going to go totally gluten free at home, but he will still get gluten at daycare. He has NO syptoms. Again this is personal choice!

I am having the test done, if he has the gene(I do realize if he doesn't have the gene it is still slighly possible for him to still get celiac.) I will probably start him gluten free at daycare too. Just to be safe. I don't want him to worry about osteoprosis at 24 like I have.(more likely for females but still possible for him). If you're child is testing negative....it's up to you and what you think is right for your child.

That is interesting that you say having him was your triggering event. I really did notice an increase in all of my symptoms after having my first child. I had a c/s with him after 17 hours of labor and ended up with a mild illeus after surgery. I always attributed my increased bowel troubles to that illeus... but maybe it was more. Interesting... very intersting!!

Honestly I think a lot of our decision to put Matthew (my youngest) on the gluten-free diet may come from whether or not his older brother tests positive.

[shayesmom]

The genetic test may help in convincing the doctor that gluten is a problem (should your son have one of the two genes that the U.S. recognizes for Celiac.....keep in mind that in other countries, about 6 genes are known to be associated with celiac disease and about another 6 in gluten sensitivity). For some strange reason, many doctors in this country are against a dietary trial which happens to be a very accurate way of proving that gluten is a problem. Celiac or not, people with this food sensitivity need to be gluten-free.

My dd was negative on bloodwork but responded well to the diet (we did not go to biopsy for various reasons). She's been gluten-free for over 2 years. At first, I really thought that we'd do a food challenge as she got older to try for a positive dx. But the further I go, the less that I care about getting that elusive slip of paper. Instead, I am thankful that I went ahead and tried the diet because my dd improved so much with it. I can't imagine how poorly she must have felt up until we did the diet and for over a year after we went on it, I felt guilty for not having picked up on her discomfort (and the source of it) earlier. Our doctors have helped us out in providing the school with a written form stating the food allergies/intolerances going on. So really, it's not a big deal in that respect either.

You're question on what the diet will do to your son down the road if you don't get a formal diagnosis is an excellent one. It's also one that you have no control over once your son is on his own. I know diagnosed diabetics who don't take their insulin correctly or who eat things that are not healthy for them. That particular issue is more about personality and how you were raised than it is about a dx. My dd was put on the diet at the age of 15 months. I went on the diet at the age of 36. I miss bread, pastries and cereals WAY more than my dd does! lol!! So for her, this thing is much easier to handle because her eating habits are being set for a gluten-free lifestyle. She is currently in pre-k and the teachers have told me repeatedly that she is amazing in her grasp on this and that there is never an objection when she can't have what the other kids are having. She just picks something from the snacks and treats I provide and moves on.

The point of this being....as a parent, you will set the tone for how this thing goes...no matter which option you pick. If you are positive about the diet and its benefits, take it seriously and then work to keep life as "normal" as possible, than chances are, so will your son(s). If this whole thing is a "drag" to you and you verbalize it daily and allow cheating on "special occasions"....then the boys won't be inclined to take it as a benefit to them and will not follow through with it later in life.

As for going gluten-free or going for more tests in the future....that is totally up to you. The average American waits about 9-11 years for a diagnosis after symptoms begin. So it may take a while. I think a lot of it depends on just how the symptoms are manifesting and whether or not relief from them would be appreciated. Trying the diet may give you more answers to those questions. From there, your children may have a thing or two to add to the discussion.

[dionnek]

My situation is the same as j_mommy's - looking back I had symptoms all my life but my pregnancy 2 1/2 yrs ago really kicked off the worst. I was dx by blood and endoscopy, so we then had my 2 1/2 yr. old daughter genetically tested so that we would know if we had to worry about it in the future or not (she has no symptoms and is in the top percentiles for growth). She eats mostly gluten-free at home, but I don't worry about the gluten at daycare, etc. right now (until and unless she starts showing symptoms). I plan on having my second child (I'm pregnant now) genetically tested when he is born also.

If your other son tests positive, you could always just make your house gluten-free and see if they both improve - if so you have your answer (but remember then he would have to go back on a gluten challenge if you want to have the blood tests done again - genetic tests can be done any time and are so easy - just a cheek swab!). Good luck!

[momof2sn]

My situation is the same as j_mommy's - looking back I had symptoms all my life but my pregnancy 2 1/2 yrs ago really kicked off the worst. I was dx by blood and endoscopy, so we then had my 2 1/2 yr. old daughter genetically tested so that we would know if we had to worry about it in the future or not (she has no symptoms and is in the top percentiles for growth). She eats mostly gluten-free at home, but I don't worry about the gluten at daycare, etc. right now (until and unless she starts showing symptoms). I plan on having my second child (I'm pregnant now) genetically tested when he is born also.

If your other son tests positive, you could always just make your house gluten-free and see if they both improve - if so you have your answer (but remember then he would have to go back on a gluten challenge if you want to have the blood tests done again - genetic tests can be done any time and are so easy - just a cheek swab!). Good luck!

Our genetic testing for my daughter was paid for by our regular insurance. She was HLA-DQ8. Our ped GI told us that 40% of people with the gene never get celiac. My husband and I have not been tested but have no problems with gluten. Our son was given the antibody panel, it may be interesting to see if he has the gene too though. He had negative blood work and has no problems with gluten.

[Electra]

I think I'm going to get my daughter tested. She tested negative on the biopsy and immunities blood test, but she has a ton of Celiac symptoms, so I think it would be wise to get the genetic test. If she comes back with both of the genes, then I would KNOW she has Celiac due to symptoms, and if she had one gene I would still feel strongly about her having it. If she does not have any of the genes then I would wonder if she has something else. I think it is very wise to do the test especially if they have symptoms.

[momof2sn]

I think I'm going to get my daughter tested. She tested negative on the biopsy and immunities blood test, but she has a ton of Celiac symptoms, so I think it would be wise to get the genetic test. If she comes back with both of the genes, then I would KNOW she has Celiac due to symptoms, and if she had one gene I would still feel strongly about her having it. If she does not have any of the genes then I would wonder if she has something else. I think it is very wise to do the test especially if they have symptoms.

My daughter is only 21 months old and we were told we caught before the damage was in the intestine and I am not willing to wait for it. They wanted to repeat the biopsy and I said "NO"

I have also heard that the blood test for children under 5 is very unreliable.

[2boysmama]

My son's celiac panel was negative and his GI doctor wanted to do a biopsy, which I refused. She then decided she would no longer help me, and even discouraged me from trying the celiac diet, saying "it sucks." I had him genetically tested and found out that he doesn't carry either of the two recognized celiac genes, but he does carry two genes for gluten sensitivity. Our whole family is gluten-free and we've drastically improved in how we feel and look!

[Guest j_mommy]

My reg doc seems more informed than my GI specialist...which is kind of scary!!!! I absolutly love my reg dr and he has encouraged me to do the genetic testing.....due to teh fact that Brax(my son) has the same reaction to dairy and some other foods I did when I was his age...also since his blood work is neg now. It would atleast put SOME of teh questions out of my mind! God knows there's enough already!LOL

[jen2be2]

In our case, it was totally worth it! We were able to determine that our daughter that has heart problems is not a carrier. We were also able to find out that our son, who currently does not show any symptoms of celiac disease and his blood work came back- is a carrier.

We now know that DH, myself, 2 of our DD and our son either have celiac disease or are carriers and we all should be tested once a year to verify that we are not active or newly aquired celiac disease. It is wonderful to know that since we got the genetic testing, we are able to not have our non-carrier DD not have to take annual blood tests for the rest of her life.