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No Genetic History - Original Mutation?

absullivan6

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absullivan6 Rookie
absullivan6
Posted

My 2.5 year old was diagnosed this past summer with celiac.  I've always had major stomach issues, so I immediately got the full blood panel which shockingly to me, came back negative.  I don't have active celiac, nor the gene for it.  My husband just got his panel back and like me, is completely negative.
I'm surprised by these results as I know celiac is mostly genetic.  My poor son's luck that he is the original mutation...

Anyone else have this in their family?

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kareng Grand Master
kareng
Posted

Did you get the specific genetic tests done?  The Celiac panel usually doesn't contain that.

absullivan6 Rookie
absullivan6
Posted
  • Author

Yes, they did the full genetic test on both of us.

kareng Grand Master
kareng
Posted

Perhaps he was incorrectly diagnosed?  Does he have a gene? I have never heard of a genetic mutation for this.  It might not be possible....

LauraTX Rising Star
LauraTX
Posted

Was it verified that the son has a known gene for Celiac disease?

ravenwoodglass Mentor
ravenwoodglass
Posted

Is your son improving on the diet? Did they test your total IGA? If you have your results posting them here could be helpful  Have you tried the diet yourself strictly? If you haven't given the diet a trial you should. There are rare celiacs that don't have either of the two most common celiac associated genes. There are non celiac gluten intolerant folks who have to be just as strict with the diet as blood and biopsy diagnosed celiacs. 

BlessedMommy Rising Star
BlessedMommy
Posted

Is it possible to get celiac via a recessive gene?

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kareng Grand Master
kareng
Posted

Is it possible to get celiac via a recessive gene?

A genetic test wouldn't matter if its recessive or not- it finds what genes you have . I Have never heard that there are any recessive

Celiac genes?

BlessedMommy Rising Star
BlessedMommy
Posted

Just curious because my husband and I both have brown eyes and ended up with a blue eyed child. I wondered if celiac worked the same way.

kareng Grand Master
kareng
Posted

Trying to I post on phone -

For example - I think CF is caused by a recessive gene if I remember right? So having 1 gene for CF and the other corresponding gene for healthy - no CF. Both parents give the child a gene for CF - the kid has CF.

Celiac genes work differently. You have 1 or more and they sit quietly and do nothing in 29% of people. In that lucky 1%, something turns 1 or more on and the Celiac fun begins.

Simple genetic explanation from a phone. Lol

kareng Grand Master
kareng
Posted

Just curious because my husband and I both have brown eyes and ended up with a blue eyed child. I wondered if celiac worked the same way.

. But if they looked at your eye color genes- they would see that each of you had a brown and a blue gene. They could match up with 1 from each of you. The genetics of eye color is actually more complex than that, but that's the simple explanation.
  • 2 weeks later...
absullivan6 Rookie
absullivan6
Posted
  • Author

I wanted to update everyone that I had my son's gastro look at my lab results and I do carry a gene.  She explained that the way the labs report things makes it very confusing for people to read, including doctors that aren't gastros.  In this case, my primary care didn't read the report as well as a gastro did and said I was negative.  If anyone else is in this situation I would recommend having a gastro read your report, not a primary care, or some other doctor.

KenzMom Rookie
KenzMom
Posted

Wow! I am glad you found some answers! I totally agree with you on seeing a GI for any of these issues-- I just took my daughter to the GI yesterday and realized that the pediatrician has been very misinformed--as a result, I was misinformed too. I wish I took her to a GI a long time ago! 

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