Genetic test--anyone understand this?

[mama.liz07]

We decided to do a genetic test on our older son and these are the results:

DQ ALPHA 1 02:01, 04:01

DQ BETA 1 02:02, 04:02

Celiac gene pairs: equivocal

The dr will call next week, but I was researching and trying to see what this means this weekend (just curious).  I haven't seen a 04:01 or 04:02 in anything I've read...anyone know what all this means?  

[mama.liz07]

Okay, the dr just wrote a note on the test.  

"Celiac genes not present.
Not likely that he has celiac disease.
Most likely a gluten intolerance."  

 But the test says equivocal.  ?  

Confused.  

Background, he had a weak positive antibody test.  When the pediatrician called with the results, she didn't tell us to stay on gluten, so, we took him off gluten.  He has been off gluten for over a month.  His GI symptoms cleared up and he started gaining weight again for the first time in over a year.  Plus, his nutrition blood tests have improved. But, he still hasn't started getting taller (height growth had slowed down a whole lot).   

I have 1st degree relatives with celiac disease.  I tested negative for antibody test (wasn't a complete panel), but in spite of that, I react strongly to gluten and have felt much better since I stopped eating it. So I have been thinking maybe I have celiac disease like them.

  I'm really worried b/c his growth has slowed so much (short and thin).  If this isn't celiac disease like we thought, then what on earth is going on? 

 Guess we could try a gluten challenge and do an endoscopy...oh that sounds like torture.  Any thoughts?

[cyclinglady]

I know very little about gene testing as I was diagnosed without it.  So, I am not even going to comment on it. However, I was sure my 19 year old niece had celiac disease or the family non-functioning gallbladder curse.  She tested negative to the complete panel, had a HIDA scan, endoscopy and a colonoscopy.  All were negative.  She is tiny.  Short and very thin too.  She has been having "attacks" for the past five years.  Then  her new GI ordered a pill cam.  She was diagnosed with Crohn's just last week.  She does not even present with the typical symptoms.  The camera caught damage in the small intestine just prior to going into the colon.  

I am not saying that your child has Crohn's.  Autoimmune runs rampant in our family (RA, lupus, celiac disease, Thyroiditis,  etc) But no one had been diagnosed with Crohn's.  It was not even on our radar.  My niece does know that she still can develop celiac disease at anytime.  Anyone in my family can.  

Your testing?  Please ask for the complete panel.  I always test negative to the TTG tests (even follow-up).  I test positive only to the DGP IGA yet my biopsy revealed a Marsh Stage IIIB.  My symptom was anemia.  No tummy issues.  Doctors blamed it on my anemia on Thalassemia (genetic anemia) and being a woman.  When it became really bad.....menopause.  See how it it can be to overlook a diagnosis?  

My family?  Yep, still negative because most have had the screening TTG only.  A GI (their insurance) is only authorized  to order a complete panel.  What a hassle!!!!!  Just my niece and my kid had the complete panel.  

[cyclinglady]

Oh, as far as improving on the gluten-free diet?  It might not just be gluten free that is helpings him,  but maybe he is eating healthier (whole foods, etc) ?

[Fundog]

If the doctor thinks it is a gluten intolerance, and some of his symptoms cleared up when you eliminated gluten from his diet, then that is probably what the problem is.  As for the growth, it's only been a month.  His body is working very hard to heal whatever damage has been caused up to this point.  All of his energy is going toward cellular repair and regeneration.  These things take time.  Once that work has been done, his body can focus on skeletal growth.  Talk with the pediatrician about these concerns too.  I'm sure she will be able to reassure you.  If it makes you feel better, take him in for extra well child visits until his growth rate improves.

[mama.liz07]

Thank you for your responses.  

 

Cycling lady, we had a pretty good diet to begin with.  Avoided processed foods and ate lots of whole foods, so I think it is probably the gluten free diet that is helping him. I did do some reading and learned a bit about his gene-type.  There are celiacs with this gene, it is just rare.  Looks like he might just be a rare case.  Going to follow-up with the dr to find out more.  Appreciate your help and advice.  It is good to remember that it will take some time to heal...I'm definitely a bit impatient to see him fully recovered! :-)  

[ravenwoodglass]

There is still much to be learned about genetics when it comes to celiac. If you can do bring a peer-reviewed article or two with you when you go back to the doctor for follow-up. Not all doctors are up on the newest research and it may help with your son and others in the diagnosis process.

I hope your son heals quickly.