No actual diagnosis/genetic results.

[Ladybug99]

Hi- new here but have been reading a lot of posts

(Long post, last two paragraphs have actual question) 

my four year old daughter probably has celiac but I don't know if I'll ever get a definitive diagnosis at this point. 

 

Backstory: growth Delays, GI issues and a few other symptoms as a baby/young toddler. Did not have blood work done but went straight to biopsy which was negative. Always still had suspicions that gluten bothered her. 

 

Started developing more symptoms around 3, by 3.5 they were pretty bad and her dr recommend eliminating gluten. (Blood in stool, rashes, low grade fever, joint pain, stomach pain and bloating, behavior issues) Everything cleared up quickly! Yay. Still had occasional gluten because I was under the impression it was "just an intolerance" and her symptoms kept up/got worse with each exposure. (Developed vomitting as most recent symptom) So I wanted to know if it was celiac. Can't do blood or biopsy since she's been mostly off gluten for months by this time. 

I really was hoping to have a concrete answer and diagnosis, So we did genetic testing recently. It came back positive for half of DQ2 (beta subunit). Her dr isn't giving her official diagnosis but says "she is at a fairly low risk" but with her symptoms doesn't that mean she has developed it??!  

Either way he says to keep her off gluten but I don't understand why he won't diagnose? Right now I am just telling people (besides family) that she has it because it's too hard to explain it all but do you think an actual diagnosis would be beneficial in any way? Should I push the issue with her dr? 

[kareng]

About 30% of people have a gene for Celiac.  They don't all have it because only about 1% of the population has Celiac.  

It is quite possible she has something else that is causing her trouble.  Sometimes eliminating gluten helps that problem, like FODMAPS.  

If it were me, I would keep her strictly gluten-free for a year or so.  See if anything develops.  Then I would try her back on small doses of gluten.  If it is something like FODMAPS, she may be able to tolerate some gluten after a while.  I would do that for 3 months .  If she is having issues I would then get her tested with a full Celiac panel and, if positive, an endoscopy.  Even if the panel is negative, if she is having issues, I would pursue more testing, ends, colonoscopy, etc.

For schools to take a gluten-free or any special diet seriously, you will need a doctors note.  I am assuming US might be different in other countries.

[cyclinglady]

Karen gave excellent advice.  I am just here to back her up.  

It is a shame that your GI did not test her for celiac disease when he did the biopsy.  Perhaps he did not even suspect celiac disease (let's hope it is that and not that he is incompetent).  The gold standard for a celiac diagnosis includes a positive biopsy.  But maybe he did not obtain enough samples (four to six).  Maybe she is just developing it.  In any case, she can be tested later.  It is useful for protecting her in school.  My own kid (not a celiac) gets tested every few years (symptoms or not).  I push gluten on her daily prior to the blood draw (three months).  She is gluten light due to our home being 100% gluten free.  

I personally would keep her gluten free (strict and learn about cross contamination) for now until she is healthy and growing well.  Then consider a challenge and a second opinion from a new GI.  As far as your family/friends,  tell them that your doctor has recommended that your daughter stay on a gluten-free diet.  If they do not accept it, then don't visit them.  Seriously.  It is your child's health that is the important issue here.  She is your kid -- not theirs!  

My parting advice?  Keep and obtain all medical records!