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Question About Those Who Have Done Genetic Testing For Celiac

Mama Melissa

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Mama Melissa Enthusiast
Mama Melissa
Posted

Heyy,

I was diagnosed blood test and biopsy with celiac almost 4 months ago by my regular physician and also a gastro after those postive tests. I also decided to consult a celiac disease specilaist just to be thorough he suggested i get the celiac genentic testing and after finding out my insurance does cover it i did.Now its been a week and i calll for my results and he wants me to come back in so he could discuss my positive celiac genetic test which i knew would be.My question to you guys is what is there to discuss??I thought it just told you what genetic genes you carry??I'm all of a sudden nervous and hes on vacation till tues to be honest i really dont have an xtra 50 dolars for the copay to see him just for the results.Does anyone have any input on this situation?? Thank you xoxo

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Dixiebell Contributor
Dixiebell
Posted

I would just tell that you don't have the money to come and could he possibly tell you on the phone and/or send you a copy of the results. My sons Dr. likes to discuss as much as he can over the phone, he says it is to save us time and money.

Mama Melissa Enthusiast
Mama Melissa
Posted
  • Author

yes thats what i am going to do.. if he wont send the results to me then i will tell him to send them to my primary care.But do you know aside from the genes what they can tell from this genetic test??

Skylark Collaborator
Skylark
Posted

There is nothing aside from the celiac genes, so don't be nervous and don't worry about going in if you can't afford it. Some people get really upset about genetic tests because of other family members. He may want to be sure you understand that children and other family members could also be celiac, or maybe to answer questions about the diet.

Mama Melissa Enthusiast
Mama Melissa
Posted
  • Author

thanx skylark could he tell of my mom or dad has it from those tests??I already had the kids tested

Gemini Experienced
Gemini
Posted

thanx skylark could he tell of my mom or dad has it from those tests??I already had the kids tested

If you have a positive gene test for Celiac Disease, then you inherited that gene from one of your parents. If you have a double copy of the gene, then it came from each side, meaning both your parents carry the disposition to celiac. That is what happened with me. I have a double DQ2 gene. A person carries the disposition to the disease but that doesn't mean they necessarily have it. You have to trigger for it. However, if they have symptoms, then the odds are they have it also.

Those with a double copy tend to have a more severe form of Celiac, which is what also happened to me. Can't win the lottery but I get the double bang with genetics! :blink:

Mama Melissa Enthusiast
Mama Melissa
Posted
  • Author

man i wonder if both parents have the gene it seems they both have symptoms but like we say the symptoms are soo simliar to other diseases you never know.When you say more severe form how do your symptoms differ???Are they more severe??

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Lisa Mentor
Lisa
Posted

It's important to note, that having the genes associated with Celiac Disease, only indicate a pre disposition, as Gemini noted.

I believe only 30% of people who carry these associated genes will develop Celiac.

ravenwoodglass Mentor
ravenwoodglass
Posted

It's important to note, that having the genes associated with Celiac Disease, only indicate a pre disposition, as Gemini noted.

I believe only 30% of people who carry these associated genes will develop Celiac.

And there are people who are firmly diagnosed celiac that don't have either of the two most common genes. I am one of them.

Your doctor has to send copies of the tests if you request it. It is the law in the US that you have a right to them. You may have to go into the office to sign a permission form first though.

Mama Melissa Enthusiast
Mama Melissa
Posted
  • Author

thank you raven yes i am def going to have him give me copys and yes they said it was postive so i guess i do have the gene or genes.I'm diagnosed by blood test biopsy and gene test i guess i a full blown celiac yippeeee for me:(

shopgirl Contributor
shopgirl
Posted

thank you raven yes i am def going to have him give me copys and yes they said it was postive so i guess i do have the gene or genes.I'm diagnosed by blood test biopsy and gene test i guess i a full blown celiac yippeeee for me:(

If you were diagnosed by blood test / biopsy, there's nothing in a gene test that could undo that. Even if they came back negative.

Mama Melissa Enthusiast
Mama Melissa
Posted
  • Author

yes i am aware but my celiac doctor suggested i get the gene test as it is good to know what types of genes you have. If im not mistaken i think they may be able to tell what diseases you might more at risk for?

Hummingbird4 Explorer
Hummingbird4
Posted

I don't personally see the point in paying a co-pay to find out what you already know: you have Celiac. Request a copy of the test results, and keep them in your medical records file at home.

Gemini Experienced
Gemini
Posted

man i wonder if both parents have the gene it seems they both have symptoms but like we say the symptoms are soo simliar to other diseases you never know.When you say more severe form how do your symptoms differ???Are they more severe??

I swear both my parents have celiac disease, especially after I got my gene testing results. They both have flaming symptoms and related problems and my father looks like he was just released from a concentration camp, he is so deathly thin. Yet.....no one wants to hear this and he continues to eat lobster mac & cheese on a regular basis. :o

My experience on the double gene causing a more severe form of Celiac certainly was true. I had just about every symptom listed in the medical journals and then some. I presented with classic celiac disease and was very underweight all my life, no matter how much food I consumed. At the age of 46, my small intestine must have expended it's last villi because I woke up one Saturday morning and was so violently ill, I thought I had food poisoning. In the next 5 days, I went from an underweight 105 pounds down to 97 pounds. I ended up figuring it out myself, believe it or not, and requested the testing. I failed all the blood work by huge numbers and had my answer.

However, to this day, I do not gain weight easily at all but have regained my health. I weigh 112 pounds now and that's the best I can do. I am 5'4" so that is a good weight for me. If I ingest even the smallest amounts of gluten, I get sick but it only lasts a couple of days. I tend to always bounce back pretty quickly, Thank God.

It is entirely feasible that both your parents could have celiac disease, especially if they come from similar ethnic backgrounds. All my ancestry is from the UK and Ireland. Those are high risk groups.

Kitsune Newbie
Kitsune
Posted

My father is a type 1 diabetic and my mother has been diagnosed with fibromyalgia, rheumatoid arthritis and IBS.

I'm starting to wonder if they should both get tested as well.

missy'smom Collaborator
missy'smom
Posted

My father is a type 1 diabetic and my mother has been diagnosed with fibromyalgia, rheumatoid arthritis and IBS.

I'm starting to wonder if they should both get tested as well.

Some professionals say that all T1's should be screened for celiac disease because there is research showing a connection. Check out these links:

Open Original Shared Link

https://www.celiac.com/articles/22190/1/Routine-Celiac-Disease-Screening-for-Everyone-with-Type-1-Diabetes/Page1.html

Open Original Shared Link

Mama Melissa Enthusiast
Mama Melissa
Posted
  • Author

well my father is very paranoid and depressed and has been on heavy medication most of his life.He also seems to have all the tsymptoms i have and his chronically constipated.My mother has hypothyroid and is a type 2 diabetic also has high blood pressure she thinks she might be lactose intolerant but there is a host of autoimmune,cancer on my mothers side and i think a few diabetes on my dads but no cancer.I just got my iga back they tested to see how i am doing and am proud to announce 3 1/2 months into the diet i am a 3 i started at 27:)

Mama Melissa Enthusiast
Mama Melissa
Posted
  • Author

ohh and btw i am german irish and italian mainly italian.My father is the mut irish,german italian and my mom is 100% italian.

George Knighton Apprentice
George Knighton
Posted

I was thinking of taking a celiac test, but what exactly do they do?

ravenwoodglass Mentor
ravenwoodglass
Posted

I was thinking of taking a celiac test, but what exactly do they do?

If your going to get tested you need to keep on gluten until testing is done. There is the celiac panel to look for antibodies in your blood, endoscopy with biopsies to check your villi, both of which have false negatives. The gene test is done with a cheek swab usually. Also you mentioned a rash in another post. You could go to a dermatologist and ask for them to biopsy the skin NEXT to the lesions to check and see if it is DH, the skin form of celiac.

salexander421 Enthusiast
salexander421
Posted

My father is a type 1 diabetic and my mother has been diagnosed with fibromyalgia, rheumatoid arthritis and IBS.

I'm starting to wonder if they should both get tested as well.

I would say yes. I read somewhere (if you want the reference I can see if I can dig it up) that if you have celiac disease then your first degree family (parents, children, siblings) have a 1 in 22 chance of also having it.

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