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Two Yr Old Daughter Is Homozygous For Dq2 Gene - What To Do Now?


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4 replies to this topic

#1 javic

 
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Posted 17 December 2012 - 06:16 PM

My 4 yr old son had elevated gluten antibodies in his blood and in scheduled for an endoscopy/biopsy on the 10th of Jan.

I decided to get my daughter tested for the gene (via cheek swab aka buccal smear).

They found that she has 2 of the DQ2 gene which, according to the internet, means she has 1/3 chance of developing celiac.

We plan to go gluten-free as a family after my son's biopsy so if I need to get my daughter tested then it should be done now. My son's gastroenterologist is out of office and Christmas is so close. I need to know what to do right away. If I get her to do a blood test she will be really upset. She is scared of strangers and hates being touched. But I also would like to get it sorted now.

Also, anyone know more detail about what it means to be homozygous with DQ2? I read there's increased chance of refractory celiac and lymphoma.
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#2 txtherapist

 
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Posted 17 December 2012 - 06:43 PM

My 4 yr old son had elevated gluten antibodies in his blood and in scheduled for an endoscopy/biopsy on the 10th of Jan.

I decided to get my daughter tested for the gene (via cheek swab aka buccal smear).

They found that she has 2 of the DQ2 gene which, according to the internet, means she has 1/3 chance of developing celiac.

We plan to go gluten-free as a family after my son's biopsy so if I need to get my daughter tested then it should be done now. My son's gastroenterologist is out of office and Christmas is so close. I need to know what to do right away. If I get her to do a blood test she will be really upset. She is scared of strangers and hates being touched. But I also would like to get it sorted now.

Also, anyone know more detail about what it means to be homozygous with DQ2? I read there's increased chance of refractory celiac and lymphoma.


I really don't know about the complications of having two copies of the DQ2 gene, but can imagine they could be serious. I'm SO glad you have learned this while she's still so young. She's a very lucky little girl to have a mommy that is staying on top of these things and caring so well for her and the rest of her family.

Tough question about what to do next. I guess, in your shoes, i would contact gastroenterologist as soon as he/she is back in the office. Maybe your daughter's test can be scheduled quickly?

Good luck to you, whatever you decide to do.
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#3 mommida

 
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Posted 17 December 2012 - 07:58 PM

I would put a rush through for the blood test and endoscopy.

Is there any definitive proof that there is a such thing as a "super Celiac" (2 positive genes)? There does seem to be some forum member accounts that the symptoms seem to be excerbated by these persons, but I can not find actual JAMA reports of such.

My daughter is DQ2 and DQ8 positive had an early diagnoses at 17 months old and then a diagnoses of Eosinophilic Esophagitus at 6 years old. (There is a known connection between Celiac and Eosinophilic Esophagitus. We had to wait and see the medical community make the connection that was showing here at the forum.)

It would be really hard to have the kids both have the endoscopy the same day, but anything you can do to get the testing done as quickly as possible.
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#4 ravenwoodglass

 
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Posted 18 December 2012 - 07:30 AM

Your ped can do the blood test. The idea of getting them to scedule both for the endo the same day is a good one if it can be done. If your DD has positive bloods or symptoms that might increase the possibility of the gastro agreeing to accomodate that. Do keep in mind there can be false negatives in both the blood and biopsy.
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Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

#5 Gemini

 
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Posted 20 December 2012 - 10:24 AM

My 4 yr old son had elevated gluten antibodies in his blood and in scheduled for an endoscopy/biopsy on the 10th of Jan.

I decided to get my daughter tested for the gene (via cheek swab aka buccal smear).

They found that she has 2 of the DQ2 gene which, according to the internet, means she has 1/3 chance of developing celiac.

We plan to go gluten-free as a family after my son's biopsy so if I need to get my daughter tested then it should be done now. My son's gastroenterologist is out of office and Christmas is so close. I need to know what to do right away. If I get her to do a blood test she will be really upset. She is scared of strangers and hates being touched. But I also would like to get it sorted now.

Also, anyone know more detail about what it means to be homozygous with DQ2? I read there's increased chance of refractory celiac and lymphoma.


What the results mean is that your daughter, if she triggers for Celiac, will most likely have a more serious case of it. I have a double DQ-2 and that is certainly true of me. I was down to about 95 pounds at diagnosis and nearly died from it. But...that was because the medical geniuses never figured it out until I requested the Celiac blood work panel. I was 46 years old at the time and had symptoms for most of my life so I went forever before a diagnosis.

Having said that, I have recovered very well and don't buy into the idea that I am more prone to Refractory Celiac or Lymphoma. I think if you never figure it out and don't go gluten-free or cheat on the diet, that could happen but I am super strict with my diet. I never give this a second thought because I feel too good now.

I am in favor of blood work but not endoscopies. Never had one because I fit all of the other criteria for diagnosis. It's a personal choice but if your daughter has symptoms, I think at least the blood work should be done. To be honest, not really sure if I would subject a small child to a scope but that's just me. You will have to make that decision based on symptoms, blood results, etc. Remember, though, not everyone with Celiac genes triggers for the disease but with a double gene, it's more likely that she will.

Good luck to you and best wishes!
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