Genetic Testing

So I made an appointment for Little Critter to have testing for Celiac.  We are going the genetic marker testing way first.  Depending on how that comes out and how she handles going back on a regular diet in a couple weeks, we will move forward with antibody testing and possibly a biopsy.  I have been very against the biopsies for my kiddos because they are so young… and I don’t feel it is necessary.  In my world… knowing they aren’t doing well on gluten is enough for me to alter their diet and remove it… if later on they decide to go back on a regular diet and have a biopsy then of course they are more than welcome to.  I spoke with a nice lady over at the University of Chicago’s Celiac Research Center yesterday and explained our history… both of the girls and mine.  We reviewed K3’s diet and talked about the symptoms Little Critter has been having.  She said we should definitely have the genetic test… what I do from there is my decision… the sucky part is the test costs $400 each and it isn’t looking likely that our insurance will cover any of it… we already have spent several hundred on K3’s testing… because our insurance didn’t cover “investigational tests”… aren’t all lab tests “investigational”?  I also gained better insight as to why K3’s very first test was negative… she wasn’t even a year old and hadn’t been eating wheat or barley based cereals for a year.  She started on rice cereal… and that was our cereal of choice until oatmeal.  We did use a box or two of barley, but not until she was closer to a year old.  So, at the time of her first test, she had only limited exposure to gluten containing foods… mostly through her teething biscuits.  Her failure to thrive period (absolutely no growth for 3 months) began around 7 months which lines up with her fist teething biscuits.   That’s also when the constipation started being an issue.  Prior to introducing food at 6 months, K3 was entirely breastfed, so any gluten she may have received was through my diet.   It frustrates me that our doctors proceeded with a test that wasn’t going to be accurate.  We went through some very scary things during that time… they thought at one point she might have had cystic fibrosis.  And its even more frustrating that they just chaulked her size up to genetics (I was small as are my other children… but no one had failure to thrive.  When I was a young child, they tested me to see if I needed growth hormone but went no further).  A classic sign of Celiac is failure to thrive or short stature!  Hello!  I am five foot even though my genetics said I should have been taller… the Docs told me I stunted my growth because I was such a finicky eater.  At Little Critter’s 3 year check up she came in at the 5 percentile for her age… they said she is on track to be 5 foot tall as well.  My other two girls are now in the 25% and look likely to be 5′ 4″ or so.  These kids have height in their genes.  Their Dad is 6′ 2″ and their grandmother and auntie are both 5’7″ on their Dad’s side.  My Mum is 5′ 4″ as are both of my little sisters.  Clearly our genetics do not lean toward short people!  The only person in my family who is shorter than average (other than ME) was my Paternal Grandpa and he drank Kerosene at 2 years old and almost didn’t live through it… he spent the rest of his life unable to eat wheat among other things.  That was blamed on his stomach and intestines being destroyed… but who knows?  He passed away 10 years ago so I can’t exactly ask him to get tested!  Anyway… we are getting tested and I will have K2 get tested for the gene as well, but since she doesn’t show any symptoms we will worry about Little Critter first.  Who knows… maybe its not Celiac.

Huh… I just saw a statistic that said the average child will visit 8 pediatricians before being diagnosed.  What the heck?  And why did our MD allergist/internist not retest for Celiac a year ago when we were in his office trying to figure out what was going on, he said “acid reflux” without doing any testing for it… obviously her first test could have been wrong since she was so young.  Are Doctors really this uneducated?  I told my daughters very first pediatrician that I thought K3 had Celiac.  I guess sometimes, Mummy really does know best.

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About PolkaDotMommy

Wife to a teacher extraordinaire... Mama to Five littles... Conservative Catholic Christian with a Strong Environmentalist Mentality... Respecting Life... Living for our Savior... Learning to trust God in all things.
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5 Responses to Genetic Testing

  1. wilddaisy33 says:

    You can try going through enterolab (www.enterolab.com), as they do stool testing. Less invasive and just as good, according to most folk! Check out their website – I’m glad I did – found out I was genetically inclined and already reacting – no endoscopy necessary. I figured I didn’t need any further confirmation than that.

    Good luck – it’s a tough one!

    Darcy (asdmommy.wordpress)

  2. JJ says:

    I can also endorse Enterolab. We have used them for 2 out of our 3 children. You can also order your genetic testing through there and it’s considerably less than $400. I think it’s around $150.

    As an FYI: If you have private insurance (in other words you are not on a group policy via a corporation) you certainly do not want the insurance company to know that your child has Celiac. We made that mistake; as soon as our policy was up for renewal, our 5 year old daughter was kicked off our plan. She is now “uninsurable.”

    Hence, if you can afford to pay out of pocket for testing (the gene testing and stool testing) do it! And then don’t disclose the results to the insurance company.

    Good luck to you

  3. Getting kicked off insurance would definitely suck. We do have insurance through Oregon Dad’s company and so far we haven’t had any side effects with K3’s disease… except the insurance companies unwillingness to pay for her blood work. I checked out enterolab and depending on how Friday goes at the Docs we will definitely use them for the genetic test. I am not sure how I feel about Little Critter at this point… I put her back on a regular diet yesterday and so far I am not seeing much change… she is trying to eat non-stop again, but I don’t know if that’s related! Oregon Dad was all “why are you getting tested too?” When I told him I was going in next month… he just doesn’t get it. 🙂 I have had several of the “misdiagnoses” throughout my life and several of the potential symptoms… with a kid who is Celiac… it makes sense for me to get tested as well.

  4. wilddaisy33 says:

    I’ve had the same thing – the regular celiac bloodwork didn’t show up positive (yet, my naturopath says, but it would’ve eventually), and even though I didn’t have a single GI symptom, I had all the others – achy joints, low vitamin D, anemia, thyroid problems, fatigue, etc. And when I tested myself through enterolab, I had BOTH positive genes, which means my son has at least one positive, which, according to enterolab, is really enough to prove that one should be GF. It’s an interesting process. Good luck!

  5. Wow! Thanks for all the input! I have GI (which has been diagnosed as IB) as well as other things like infertility, anemia, fatigue (diagnosed as chronic fatigue syndrome)… which I hear happens often. Both of my daughters have GI symptoms… my oldest daughter doesn’t show symptoms but I will have her tested for the genes anyway.

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