One Gene - Dq2

[combo76]

I am really confused, and I am looking for some advice.

My son has had issues, from loose-watery bowels, to broken bones, to

vitamin D deficiency, and constant complaints about stomach hurting. I have taken him to 2 different doctors, and they have run many tests on him, they come up with nothing.

Just recently, he has been waking up and throwing up, but not everymorning. I have not taken him to the drs. b/c honestly, they are just going to send me in a circle, and come up with nothing.

I am getting worried, b/c it has been about 3 months of the vomiting in the morning.

I was mentioning this in a conversation with friends, and Celiac came up again. I explained that we had celiac genetic testing done, and I was told he has one genetic marker, but b/c he does not have another gene, his chances of having celiac is almost impossible. And the test came from a top name children's hospital in my area. Then I was told that you don't need to have 2 genes, just having one is enough. I am confused, confused! I did go gluten free with him for 3 weeks, and I saw a great improvement. However, he broke down crying one day begging for "real" pizza, and I stopped the diet. I don't know whether I should force him back on it or not. Especially since it is tough, and when I read the doctors report, it clearly states, he only has the DQ2 genetic marker, and b/c he only has one - the chances of him having this is almost impossible.

Any advice would be very much appreciated. I really don't know what to do!

Thanks for taking time to read this - have a good day!

[SandyStPeteFL]

I am really confused, and I am looking for some advice.

My son has had issues, from loose-watery bowels, to broken bones, to

vitamin D deficiency, and constant complaints about stomach hurting. I have taken him to 2 different doctors, and they have run many tests on him, they come up with nothing.

Just recently, he has been waking up and throwing up, but not everymorning. I have not taken him to the drs. b/c honestly, they are just going to send me in a circle, and come up with nothing.

I am getting worried, b/c it has been about 3 months of the vomiting in the morning.

I was mentioning this in a conversation with friends, and Celiac came up again. I explained that we had celiac genetic testing done, and I was told he has one genetic marker, but b/c he does not have another gene, his chances of having celiac is almost impossible. And the test came from a top name children's hospital in my area. Then I was told that you don't need to have 2 genes, just having one is enough. I am confused, confused! I did go gluten free with him for 3 weeks, and I saw a great improvement. However, he broke down crying one day begging for "real" pizza, and I stopped the diet. I don't know whether I should force him back on it or not. Especially since it is tough, and when I read the doctors report, it clearly states, he only has the DQ2 genetic marker, and b/c he only has one - the chances of him having this is almost impossible.

Any advice would be very much appreciated. I really don't know what to do!

Thanks for taking time to read this - have a good day!

In regards to your son, I would take him elsewhere to get tested. I have only the DQ2 gene but they did the endoscopy on me in November of last year and I have no villi in my small intestines and all the blood work came back positive for celiac disease. So, I really think I would have him checked elsewhere.

And you can make a really good pizza. There are all kinds of good food (not necessarily bread) that can be used instead of glutenated foods. I make a wonderful pizza with dr. schars pizza crust.

[ang1e0251]

I have heard the "rare" word from dr's before too. I just don't believe it. Even it were the rarest condition in the world, what means your son can't have it? Because they never see rare patients? You have one gene, you're suspicious, and you have a positive dietary response. Some big red flags waving at you. It's not "rare" or even uncommon for children to test negative on a blood test. Did he have a celiac panel done? It's not even uncommon for the biopsy to be negative but still see a dietary response that is positive. He could be intolerant and not have celiac disease.

But...no matter which of those it is, the treatment is exactly the same; the gluten-free diet for life.

I would push through with the blood test and biopsy. If you can't find a dr to help you, you can put him back on the diet. You don't need a dr's permission for that.

[combo76]

I have heard the "rare" word from dr's before too. I just don't believe it. Even it were the rarest condition in the world, what means your son can't have it? Because they never see rare patients? You have one gene, you're suspicious, and you have a positive dietary response. Some big red flags waving at you. It's not "rare" or even uncommon for children to test negative on a blood test. Did he have a celiac panel done? It's not even uncommon for the biopsy to be negative but still see a dietary response that is positive. He could be intolerant and not have celiac disease.

But...no matter which of those it is, the treatment is exactly the same; the gluten-free diet for life.

I would push through with the blood test and biopsy. If you can't find a dr to help you, you can put him back on the diet. You don't need a dr's permission for that.

Thanks for answering me, his blood tests came back negative, they were done when he was 3 yrs. old.

But the genetic - or DNA as the dr. said, was just done this past fall.

No doctor told me to put him on the diet, I am just so confused and looking for answers, I did it on my own. I did see great results, but like I said - it is tough on him. And then when family jumps in and comments, i.e. the doctors say he doesn't have it, or he ate that at my house and nothing happened to him. I think in my head, is it possible, or should I just get past the possibility of celiac?

That's why I was wondering about having just the one gene.

[dadoffiveboys]

Thanks for answering me, his blood tests came back negative, they were done when he was 3 yrs. old.

But the genetic - or DNA as the dr. said, was just done this past fall.

No doctor told me to put him on the diet, I am just so confused and looking for answers, I did it on my own. I did see great results, but like I said - it is tough on him. And then when family jumps in and comments, i.e. the doctors say he doesn't have it, or he ate that at my house and nothing happened to him. I think in my head, is it possible, or should I just get past the possibility of celiac?

That's why I was wondering about having just the one gene.

I have a DQ8 and DQ4 gene... and I have problems with gluten but was NEGATIVE on the testing. Maybe it's not celiac but a gluten-free diet has helped me tremendously. My wife has two copies of the DQ5 genes, so ALL of our children have problems with gluten. The DQ5/DQ8 ones have a much worse reactions - one had life-threatening Asthma (probably from GERD) and the other had Failure to Thrive (didn't eat from GERD). The rest didn't have it bad enough for those but are affected. It only takes one gene (and MOST of us have one....)

GOOD LUCK - if you feel better on the diet GO FOR IT!

[bear6954]

My son had the same symptoms as yours when he was 2. His celiac panel was negative, positive for both DQ2 genes, and very positive biopsy. My son had the bloated belly, lots of mess bowel movements also. My son quit vomiting in the mornings after 1 week of being gluten free. My son would not vomit every day, but a few times a week. It did not seem to bother him - just kept playing. He is now 3 and on prevacid because acid reflux makes him also vomit - just much less comes up. I would continue to see drs until you get a good diagnosis. It could be that biopsy is the way to get the proper diagnosis.

[combo76]

My son had the same symptoms as yours when he was 2. His celiac panel was negative, positive for both DQ2 genes, and very positive biopsy. My son had the bloated belly, lots of mess bowel movements also. My son quit vomiting in the mornings after 1 week of being gluten free. My son would not vomit every day, but a few times a week. I did not seem to bother him - just kept playing. He is now 3 and on prevacid because acid reflux makes him also vomit - just much less comes up. I would continue to see drs until you get a good diagnosis. It could be that biopsy is the way to get the proper diagnosis.

That sounds almost exactly like my son. He throws up, and very similar to yours, it wasn't every morning, but it is frequent enough to be extremely concerned about it & he is not phased by it at all. I looked at a copy of the result of his testing last night (because I wrote the question on here while I was at work), and the report says he has duplicate DQ2 genes.

But wow, I am so glad you responded back to my post. I was really hesitated to write on here.

Did you push for a scope? I know if I ask for this from his doctor I will have a battle getting this.

And do you know of any medical studies/info I could possibly bring to my dr. that will make the request any easier?

Oh - and again - thank you, thank you for writing back!!

[happygirl]

You only need one gene, not both.

You may want to consider a new GI that is willing to work with you and discuss your concerns.

[WW340]

yep, you only need one. I have only the DQ 2 and I am blood and biopsy positive.

[bear6954]

I was very lucky. When my sons liver panel test came back extremely high, we were sent to a Ped Gi specialist the following week. He took one look at my son and told me he had celiacs and this was prior the the dna results. Our GI dr recommended the scope. I did not want to do it! However, I am very glad I did. Otherwise we might still be guessing. Are you seeing at Ped GI dr yet? Can you get a referral to see them?

Since my sons symptoms were so severe (only grew 1 1/2" between the ages of 1 and 2 and no weight gain), our GI dr recommended we go gluten light to help my sons symptoms. Our biopsy was 4 weeks away. I gave him gluten food a few times a week - like a couple of oreos or something. Even on gluten light, my sons bowels became less acidic and I do not remember him throwing up. I wanted to keep enough gluten in him to get a positive biopsy and it worked. My sons behavior also became sooooooooooo much better. Not clingy or grumpy- he was happy and playing like a normal child. Within a few weeks of going 100% gluten free, most of my sons symptoms were gone. He still has issues if he eats to much sugar, fruit, milk or fats. I let him have all of those, just in real moderation. He drinks crystal light instead of koolaide. If I know that we are going to have fast food for dinner, I limit the amout of fatty stuff he eats that day to help with the pooping. I only allow my son apple juice about once a week etc. I kept a food journal to figure out what was bothering him.

There is a lot of info on this web site about celiacs and symptoms for children. I orginally googled celiac disease and you get a ton of resources. There is also a book called CELIAC DISEASE: A Hidden Epidemic by Peter H.R. Green MD. It explains a lot about the disease and effects it has on kids and adults. It also gives resources for buying foods. Other sites: www.celiac.org ; www.scaceliacs.org ; www.celiackids.com ; www.celiac.ca ; www.gluten.net ; www.naspgn.org ; www.celiaccenter.org ; www.uchospitals.edu/specialties/celiac .

I took my son to the dr for 3 months for the vomiting before something was done. Now I wish I would have put my foot down and demanded help from specialists.

As for food, you can start a new thread and people here will give you lots of good advise! I prefer Foods by George pizza. Its expensive, but really good. I did cause and effect with my son. Shortly after he got diagnosed he grabbed my daughters pop tart and ate a few bites. I told him no and that that food gave him owies in his belly. Later that day, he had the typical gluten poop and I told him that this is what happens when he eats food with gluten. That was enough for him. We still have issues with crackers, because gluten-free crackers are just not the same! Whole Foods has some great cookies, muffins and cupcakes that are gluten free. Pamelas baking mix makes great muffins and pancakes and I use it for regular flour. Glutino pretzels are wonderful. He can also eat cool ranch doritos, lays pot chips and lots of junk food like fruit roll ups! Chex has a few new flavors of cereal out that are now gluten-free also. I make home made chex mix and it is a hit! Vans waffels are wonderful. Bell and Evans chicken nuggets are good.

If I can help in anyother way, let me know!

Lisa

[lizard00]

I looked at a copy of the result of his testing last night (because I wrote the question on here while I was at work), and the report says he has duplicate DQ2 genes.

If I am reading this correctly, he has duplicate copies of the DQ2 gene, and that actually puts him in the highest risk bracket. I have double copies of the DQ2 gene, and my risk was 31x higher than someone without the gene.

I agree with the advice so far. Testing in children is very inconclusive, and you should definitely seek out another doctor who is willing to listen. You said your child had dramatic improvement in just a few weeks, that in itself is very telling.

I wish you the best!! And I hope you get this all sorted out and find supportive medical help. This forum is a great source of info, as well as the main site. Take a look around so that you will be armed when you pursue further testing, etc.

[CMG]

My 6 year old daughter and I each have a single copy of the DQ2 gene. According to her pediatrician and my GI doc, that single copy of DQ2 increases your chance of developing celiac to 10 times that of the general population.

Both my daughter and I have responded remarkably to the gluten free diet, although both of us had negative blood results and I had a negative biopsy. (We both had testing done after having been gluten free for a period of time.) Based on the information we have right now, we both will remain gluten free. The tough part is that with no "real" diagnosis, my mother thinks I'm going overboard and that having gluten once in a while won't hurt anyone. The fact is, I know how awful I feel when I get glutened and I want to avoid it for both myself and my daughter.

[Kcat99]

I have a DQ8 and DQ4 gene... and I have problems with gluten but was NEGATIVE on the testing. Maybe it's not celiac but a gluten-free diet has helped me tremendously. My wife has two copies of the DQ5 genes, so ALL of our children have problems with gluten. The DQ5/DQ8 ones have a much worse reactions - one had life-threatening Asthma (probably from GERD) and the other had Failure to Thrive (didn't eat from GERD). The rest didn't have it bad enough for those but are affected. It only takes one gene (and MOST of us have one....)

GOOD LUCK - if you feel better on the diet GO FOR IT!

Why is the DQ5/DQ8 combo much worse? Apparently I am DQA1*01, DAB1*0502, DQA1*03, DQB1*0302

[dadoffiveboys]

Why is the DQ5/DQ8 combo much worse? Apparently I am DQA1*01, DAB1*0502, DQA1*03, DQB1*0302

DQ5 is a gluten sensitive gene, DQ8 is a celiac gene. Having both together is much worse than having a non-gluten gene (like I have the DQ4 with a DQ8.) That's all I mean.

[Kcat99]

DQ5 is a gluten sensitive gene, DQ8 is a celiac gene. Having both together is much worse than having a non-gluten gene (like I have the DQ4 with a DQ8.) That's all I mean.

Thanks!

[mommida]

You have enough reason to request that your son be seen by a specialist, pediatric gastroenterologist.

If you are going to continue with the testing your son needs to continue eating gluten. (Celiac can only be diagnosed by the amount of damage.)The blood panel will probably be drawn (again), from the symptoms described the next part of testing will include a endoscopy with biopsy (biopsies must be taken from more than one site, and from tissue that apears "normal". You should discuss all other disorders that the endoscopy is being done to exclude or diagnose. Make sure you feel comfortable with your child's doctor, and feel that your concerns are being addressed.

In the mean time start reading labels and become more aware of ingredients. Keep a food journal that keeps track of time of ingestion and time of symptoms i.e. pain, vomitting, "D" or constipation. In certain disorders that cause the same symptoms, allergic reaction can be delayed.