Diagnostic frustration. Help!

[Kaj242]

Hi there, I just got my celiac gene results back and I am positive, I carry the gene. I have taken matters in my own hands by healing my gut with chiroprator care. I feel amazing after 34 days of autoimmune paleo. However I am frustrated the doc will only diagnose celiac with biopsy. Does anyone  happen to know if having family history of celiac, having several of celiac symptoms, having the celiac gene, all of symptoms disappearing after eating gluten free and  can ONLY be gluten sensitive?? My 3 yr old daughter looking back maybe celiac, she failed to thrive, had acid reflux/colic as baby (she was breastfed, and I was eating gluten then) and now she has tummy aches, loose stool, grey/white color which concerns me. Her peditriacian is waiting to see what is going on with me to do any testing sinces she's 3. I feel overwhelmed that Id have to feel crappy for several weeks for a biopsy, which I am currently not considering. I have a 1 yr and 3 yr old who both need me, and need me well. Sorry for all the info, I am trying to find answers......

[cyclinglady]

Welcome!  It is a shame that your chiropracter ordered a gene test, but failed to do a celiac blood panel which would be more definitive.  Unfortunately, you need to be consuming gluten for those blood tests to be valid (8 to 12 weeks).  About 30% of the population carries the celiac gene.  This test most often helps to exclude celiac disease and not to diagnose it.  

Your choices are to consume gluten for a month for a biopsy or declare yourself gluten intolerant and continue on with a gluten free diet.   The second option is possible.  My hubby went gluten free per the poor advice of two medical doctors.  Gluten makes him sick.  Does he have celiac disease?  We will never know.  He will tell you that I have had it easier with my diagnosis in terms of medical and family support.  It made it easier for my child to get and to continue to get tested too.

Only  you can know what is best for you and your family.  I strongly recommend more research.  You are your best health advocate.  

Take care.  ☺️

[Kaj242]

That is my current conflict. The definitive of the diagnosis . It was my gi doc that ordered gene test in hopes to rule out celiac. I did the antibody blood test but that was after 10 day gluten free, followed by 7 days of eating lots of gluten, also in hopes for clear answer.  The antibodies were negative. I've also been told those can be false negative?!  So frustrating . My chiropractor is fabulous, told me and explained so much. He although doesn't find diagnosis as important which I sorta understand. The treatment is the same. But like you said its easier with diagnosis for support .  I know lots of people carry gene and never get celiac.  I've had a gut (irony) that I do have celiac, not just because it's more definitive, but because it fits a handful of many years of symptoms.  

Again I wonder with my combo 

-positive gene test

-family history of celiac

- several celiac symptoms (migraines, many gi, most recently elevated liver enzymes that sky rocketed after doubling gluten in hopes for clear gluten antibodies )

-symptoms improved with with removing gluten on two occasions

- after reintroduced gluten symptoms magnified

that the probability for celiac is MORE likely vs gluten intolerant?

 

[nvsmom]

Did you get all the tests done?  This report goes through them all: Open Original Shared Link

One negative test is pretty common which is why multiple tests are best.

You have the positive genes, which 30% of the world also has. Only about 1 in 40 of those will develop celiac disease though. The genetic tests have not yet been linked to NCGI though.

At this point, it could be either. You can either go strictly gluten-free or do the tests and suffer through the gluten challenge.  Neither are great options.

I would advise you to get your kids checked and then try the gluten-free diet for a good 6 months if they have symptoms. Going gluten-free won't hurt them and could help them if gluten is the issue.

BTW, my kids were negative but their health improved remarkably after going gluten-free.

Good luck!

[Kaj242]

Update: I decided to email university of Chicago celiac center since I live in suburb of Chicago and got an awesome response, medical director, said: ( dr gaudalini)

 

 As for the mom, yes I would think it is fair to state she is more likely to be celiac than "gluten intolerant", but I still would personally recommend reaching a definitive diagnosis (not necessarily by a biopsy) before undertaking a life-long commitment to a strict diet. Contacting Dr. Kupfer for advice would be recommended.
As for the 3 year old girl, I'll be happy to see and assess her. Please do not begin a gluten-free diet without having first checked her blood levels of antibodies!! We now have simplified diagnostic procedures that may avoid the biopsy, but we need to act soon. 

I cried. Finally some direction! We had my 3 yr olds appt this past Thursday and he was thinking celiac was less likely since she's gaining and growing... He did do blood test though. My daughter was a trooper through the blood draw. 

Tuesday I got the results:

am in TEARS, there's nothing like a mothers intuition. she tested a STRONG positive (ttg 87 for a 3 yr old) Celiac on blood test, along with low iron and elevated liver enzymes (JUST LIKE ME!) We have to do an endoscope, she will be put under to confirm,I am so weirdly grateful for going through this myself to suspect her and I am so grateful to not let the other doctors (my general doc) make me feel crazy, believe me i was feeling it! Things really do happen for a reason.

conclusion: I'm certain I am celiac 

frustrated still though we can't get in til feb 16 for endoscope. I feel horrible she has to continue suffering. Her preschools teachers have noticed new behaviors. This past week she had irritability with them,  usually only irritable with me ( as kids are most comfy with mom) and teachers said she looks pale before lunch. It's got the malabsorption I'm sure. I'm that mom to call and will do so to try to get in earlier so she can start HEALING!

question her ttg was high, 87. And from my understanding children her age may not even show a positive ttg, shouldn't this be more then enough to get endoscope asap??? Not 4 wks out. Yes I get others are scheduled but if it was your kid as they say what you do??

[kareng]

It is probably considered non-emergent.  You could see if you could get on a cancellation list?  Or call everyday to see if anyone has cancelled for the next day? 

[Kaj242]

Yes I plan on calling.  I think she already has me on the cancelation list. I am frustrated with the whole process, especially since it has been most of our journey. I have read and researched so much, advocated for us both like it was my job. I hope to get in sooner. I again feel blessed to follow my intuition and able to give life to my daughter twice!? Such an amazing gift.