Friday, May 25, 2012

Mystery solved?

Moms and Dads, you do realize you are your child's best advocate, right?

We got our first round of answers yesterday and I've been in a bit of a funk ever's good to have answers, but some answers are hard to swallow. We have an appointment scheduled to see a Geneticist at Nemours on May 30'th - this appt was scheduled about 6 months ago and we were unable to push it up.

**A side note, I requested our GI doctor move this appt up, as I felt in my spirit that THIS was where we'd get answers...but he assured me that Lillie had "CVS" and that he had only scheduled this appt as a precaution...that he did NOT believe AT ALL that she had any genetic predisposition towards anything. In an effort to not be "that mom"...ya know, the one who is annoying and pushy and claims she knows more than her doctor, I said ok and dropped the issue.**

Hmmm...nope, sorry, not done ranting. Do you all know that "CVS" is a diagnosis they give you when they've exhausted all other tests and basically have NO STINKIN' CLUE what is wrong with you?? Seeing as how genetic testing had not taken place, I feel as if it was irresponsible NOT to push up this genetic testing and completely inaccurate to diagnose Lillie with "CVS" when our doctor had no way of knowing that without pursuing genetic testing. Grrrrr. (Insert a short scream from me...slightly better now...) Ok...I'm done., I'm not done. This same doctor (who I honestly think is a good man and is doing his best with the knowledge he has) told me that it would do Lillie no. good. to change her diet. I asked him multiple times at multiple appointments if he could offer any nutritional/dietary advice, to which he had none. The ONLY reason we took grain out of her diet, was because of an inner nudging (thank you God) and hours of research that pointed to grain-free diets assisting in intestinal healing. I would've done this 2 years ago had I been told by ANY medical professional that it would help us. are. your. child's. best. advocate.

Needless to say, Chad and I didn't want to wait for May 30th and moved forward with Enterolab in Dallas,Tx to find out for ourselves if she carried genes for Celiac and Gluten Senstivity.
Date: 5/24/2012

Name: Eason, Lillie
DOB: 8/31/2009

Gluten Sensitivity Gene Test
HLA-DQB1 Molecular analysis, Allele 1 0201

HLA-DQB1 Molecular analysis, Allele 2 0301

Serologic equivalent: HLA-DQ 2,3 (Subtype 2,7)

Interpretation Of HLA-DQ Testing: HLA-DQB1 gene analysis reveals that you have one of the main genes that predisposes to gluten sensitivity and celiac sprue, HLA-DQB1*0201 or HLA-DQB1*0302. Each of your offspring has a 50% chance of receiving this gene from you, and at least one of your parents passed it to you. You also have a non-celiac gene predisposing to gluten sensitivity (any DQ1, DQ2 not by HLA-DQB1*0201, or DQ3 not by HLA-DQB1*0302). Having one celiac gene and one gluten sensitive gene, means that each of your parents, and all of your children (if you have them) will possess at least one copy of a gluten sensitive gene. Having two copies also means there is an even stronger predisposition to gluten sensitivity than having one gene and the resultant immunologic gluten sensitivity or celiac disease may be more severe. This test was developed and its performance characteristics determined by the American Red Cross - Northeast Division. It has not been cleared or approved by the U.S. Food and Drug Administration.

For more information about result interpretation, please see

Stool analysis performed and/or supervised by: Frederick Ogunji, Ph.D., EnteroLab
Molecular Gene Analysis performed by: American Red Cross
Interpretation of all results by: Kenneth D. Fine, M.D., EnteroLab


We received her results yesterday (see above in italics). Lo and behold, she carries genes for Celiac AND Gluten Sensitivity. Am I allowed to say "told ya so"? From what I understand, this means Chad or I (or both) carry these genes and we passed them down to her. We've been encouraged at this point to test both Shepherd and Rauly as it is very possible that one or both of them carry the genes as well.

Does it make me a bad parent or person that after the kids got in bed, I asked Chad to go to Five Guys and order a hamburger with a big side of cajun fries?? We locked our bedroom door, poured ourselves a glass of wine, enjoyed our first "fast food meal" in 6 weeks while we discussed the results and quietly mourned our love of gluten! Seriously, this is going to be DANG HARD to give up!!!!!!!!! Holy guacomole...I love bread. Really. It's pathetic. wimper wimper and big ol' sigh. Ok. Getting back on track....

It is possible to carry the gene but not have any problems...basically carrying the genes means you are "pre-disposed" to develop Celiac or Gluten Sensitivity. However, if you are currently reactive to gluten, (as we believe Lillie is), than gluten = poison. It is not something you can occasionally eat without very real short-term and long-term consequences. It is not something you outgrow (like a dairy or peanut allergy)...this is something she will carry with her for the rest of her life.

What could happen if she WERE to rebel and decide she wants to eat Chick-Fil-A, Macaroni Grill and Pizza Hut or just plain ol' normal wheat bread on a consistent basis? Infertility, cancer of the intestines, severe anemia, osteoporosis, decline in dental health, diabetes, neurological disorders, not to mention the immediate discomfort of vomiting and diahrea that she's been experiencing these past two years, etc, etc, etc. My point?...Gluten-Free may currently be a "fad diet" but it is NOT a "fad-disease or illness" and she will need to take this very seriously...which means our entire family will need to as well.

So what's the next step? The only way to 100% confirm that she has celiac is to do an Endoscopy - something we will not be doing. Chad and I both feel this is unnecessary at this time. We will however be doing a "gluten/dairy/soy/egg" panel that will test to see if she is currently showing sensitivities to any of those four food groups...I'd be willing to bet a million buckaroos that the gluten will come back positive. Any takers? ;-) We will also be moving forward with further genetic testing on May 30th at Nemours.

Thank you for your prayers these past two seems we've finally solved the mystery. And thank you in advance for the support in the years to come.

These articles are for family (and friends if you'd like to read them) who need more info. :-)

1 comment:

Michael and Hannah said...

Wow, I gotta admit I found that hard to follow... you are going to have earned yourself a medical degree with all the research you do being an advocate for your child! I have SO much respect for you and all that you are doing to improve the quality of LA's life. Praying all your hard work pays off and Lillie Anna can spend more time just being a stinker pot!