I'm Disappointed From.....

[Simona19]

Hi I'm disappointed from the letter I got from my doctor at Columbia University Hospital. She received the results from my genetic test(cheeck cells). She told me last time I saw her, that she will tell me, if I have celiac disease when this test will come back positive. She wrote:

You tested positive for one of the celiac disease-associated alleles. This means that you tested positive for half of the HLAQ DQ2 heterodimer. Your risk of developing celiac disease is lower than those individuals that carry both copies of the gene, but celiac disease can not be entirely excluded. It means you still have the potential to develop celiac disease. This does not diagnose you with celiac disease. When I asked her, if I should go back and eat gluten again, she told me no. Also my regular doctor told me that I shouldn't eat gluten again. He asked me:"Do you want to be sick again? Don't eat gluten!" My heath had improved 70% from May 2010.

Until now I know for sure: I had Marsh 1 on upper endoscopy, very rappid transit in small intestines, negative blood work for celiac disease. I'm milk intolerant, fructose intolerant and wheat intolerant (I tested positive on skin test- one hour after injection. The reaction was delayed, but it lasted for more than 24 hours: reaction 2+ from scale 0-4), tested negative for wheat on prick skin test,and positive for milk allergy. I had SIBO. I don't have D anymore. My periods are lighter, no IBS, less gas(only when I eat something that have more fructose in it). I still have acid reflux, neuropathy,pancreas insuficiency, *blackouts, *dizziness, *feeling of fainting - pre-syncope,*palpitation (*improved 50% from May 2010). I didn't have rash with blisters yet. I don't know if this is gluten related or sunshine related. I also was iron, magnesium and vitamin D borderline, or under. All this can be related to celiac, or not.

My genetic test:DQ2 ALLELES:

DQA1*0501 OR *0505 DETECTED I HAVE DQA1*0505,DQA1 *01

DQB1*0201 OR *0202 NOT DETECTED

DQ8 ALLELES:

DQB1*0302 NOT DETECTED I HAVE DQB1*0301, DQB1*0502

Now what? I have, or not? I found one articles on Wikipedia where The DQ2.2/DQ7.5 phenotype. Also called DQ2.5trans in some publications. DQ7.5 haplotype is the DQA1*0505:DQB1*0301 I have that!!! haplotype. The DQA1*0505 allele is similar to the DQA1*0501 allele of the DQ2.5 haplotype. When DQA1*0505 or DQA1*0501 gene products are processed to the cell surface they become α5. The gene products of DQB1*0202 and DQB1*0201 are almost identical and function similarly. As a result one isoform produced by the phenotype of two haplotypes, DQ2.2/DQ7.5, is HLA DQ α5β2. A small percentage of coeliac disease patients have this haplotype. The other 3 isoforms are α2β2(DQ2.2), α2β7 (DQ7.2), and α5β7 (DQ7.5).

All this isn't enough for diagnosis?

[psawyer]

Genetic testing can not diagnose celiac disease. Many people have the genetic characteristic but never develop the disease. In addition to having the genes, something must trigger the autoimmune reaction.

[Simona19]

Genetic testing can not diagnose celiac disease. Many people have the genetic characteristic but never develop the disease. In addition to having the genes, something must trigger the autoimmune reaction.

Hi. I just want to tell you that I finished my topic. Please check it one more time. Thank you.

I know that genetic test doesn't mean that I have celiac disease, but should the doctor take to the consideration all my symptoms?

[kareng]

Hi. I just want to tell you that I finished my topic. Please check it one more time. Thank you.

I know that genetic test doesn't mean that I have celiac disease, but should the doctor take to the consideration all my symptoms?

Did you do any Celiac blood test (not gene) or an endoscopy?

[Simona19]

Did you do any Celiac blood test (not gene) or an endoscopy?

Yes, 3 times. Each time negative.

Results:

from 05/21/2010

IGA, serum 259 ref. range 81-463

tissue transglutam AB IGA <3 ref. range <5, interpretation negative

tissue transglutam AB IGG (tTG) AB, IgG <3 ref. range <7 negative

I was 2 weeks gluten free and two weeks before on very strick diet (I had gastritis which made me very sick. I didn't eat almost anything. Just plain water to stay hydrated and maybe chicken or vegetable soup, or peace of chicken with plain rice, potato - only few bites)

from 07/16/2010

IGA, SERUM 251 REF. RANGE 81-463

IGM, SERUM 186 REF. RANGE 48-271

IGG, SERUM 1213 REF. RANGE 694-1618

FROM 09/16/2010

TISSUE TRANSGLUTAM AB IGG (Ttg) AB, IgG <3 REF. RANGE <7 NEGATIVE

GLIADIN AB (IGG) <3 REF. RANGE <11 NEGATIVE

GLIADIN AB (IGA) <3 REF. RANGE <11 NEGATIVE

iMMUNOGLOBULINS, IGG

IGG, SERUM 1118 REF. RANGE 694-1618

IGA, SERUM 247 REF. RANGE 81-463

IGM, SERUM 172 REF. RANGE 48-271

TRANSGLUTAMINASE IG <3 REF. RANGE <5 NEGATIVE

Only third time I had averything tested, but it was after 4 and half months on gluten free diet.

Is this false negative?

[RiceGuy]

Seems to me that your antibody tests are not so negative. My opinion, but considering the reference ranges, and the fact that your weren't even eating gluten up to the time of testing, I'd say they're positive enough. It takes six weeks or more of eating gluten daily to get typical reliability from the blood tests, and even then it's not any guaranty.

Besides, if you are feeling better on a gluten-free diet, and both doctors are telling you to remain gluten-free, then how is that not a diagnosis? It is gluten-sensitivity at the very least, no? And, would you eat gluten if they told you to? Seems to me that you're on a gluten-free diet no matter what the test results say, aren't you?

[mushroom]

I agree with RiceGuy. Sometimes we have to live in the gray areas, not all is black and white. The fact that you were not eating gluten would definitely skew the results of your tests toward the negative. If eating gluten free makes you feel better, that is obviously what you need to do.

[GFinDC]

You can test negative on the antibody blood tests and still have celiac disease. They can't exclude celiac, they can only include it as possibility.

[cassP]

ya- did u say u were gluten free before all 3 of your blood tests???? that definitely makes false negatives possible!

if i were you , i would listen to my body- if you have felt better while gluten free- then you should stay gluten free- if you've already got enough symptoms, and you DO have a DQ2... why push your body- why test the triggers? gluten could also trigger other autoimmune illnesses.

i say listen to your body

[Simona19]

Thank you for your advices. I know that I need to stay on gluten free diet and I'm staying on it. I was just disappointed from the letter that I received because my doctor told me that she will finally tell me, if I have celiac disease, or not. She wanted to see the results from my "special" genetic test (I paid for it $375,--), my son's genetic test(DQ2- positive), his blood work for IgG,IgA... - positive. All this and my symptoms, intolerances and related illnesses would help her to decide if I have the disease, or not.

I don't know why I need to know. I'm gluten free, I'm staying gluten free. I'm scared to eat it again because I was very, very sick all my life and I'm hoping that I will lose some of my health issues forever.

I just didn't expect my doctor to say that I don't have it after all her promises.

[Simona19]

Did you do any Celiac blood test (not gene) or an endoscopy?

I forgot to write about the endoscopy. I was only Marsh 1, but technition wroted as the final report- beginning of celiac disease.

[cassP]

I forgot to write about the endoscopy. I was only Marsh 1, but technition wroted as the final report- beginning of celiac disease.

with your symptoms, your positive son, your endoscopy report, and your DQ2 gene- if i were u, i would just assume i was a Celiac with false negative bloodwork.

im sorry you had to pay so much for the genetic testing