Tuesday, September 13, 2011

National Celiac Awarness Day

My mom was having tremendous troubles with her stomach last year.  At one point, when I went to drop off Lily, I found in her tears, doubled over in pain.  Shortly after, she had emergency gallbladder surgery but it didn't fix all her problems.  Last December, after her surgery, her primary care doctor called her to tell her she had tested positive for Celiac Sprue.  What the hell was that, we all asked?!? She had to go completely gluten free. 

January of this year, I had an appointment with Dr. Scott Faber at the Children's Institute.  Dr. Faber is a controversial neurodevelopmental pediatrician.  He is controversial because he believes that a strict diet of no wheat, no dairy, no soy is a way to control symptoms of autism.  I personally like and respect Dr. Faber but there are many who don't.  I worked with him and his collaborators at Duquesne University on an autism grant that put autistic kids in ultra-clean rooms to level out the toxins in their bodies.  Our lab ran an assay which measured the mutation frequency in the blood when there is an environmental exposure, it's a good indicator of how much you were exposed.  My lab actually saw the frequency increase by 10 and 100 fold of two autistic children, indication of a benzene exposure.  So I had dinner with Dr. Faber once and he is truly a wonderful, caring man.  When I took Claire to be evaluated by him, the first thing that he asked was if any first degree relatives had an autoimmune disorder.  I mentioned my mom's diagnosis but did not think anything of it.  He answered with "really?!?".  Claire was diagnosed a month later. 

Our lives have been turned upside down in the past two years.  I never imagined that I would be a mother to one of "those" children who had "allergies".  But this is beyond a wheat allergy.  Left untreated, Celiac disease can cause malnutrition, anemia, infertility and potentially cancer.  What makes me the most sad is that Claire was asymptomatic, she never complained about her stomach and she definitely did not have a growing problem (most celiac kids have stunted growth or are short statured).  With this diet we have seen remarkable improvement in her speech and hand writing.  She is still tired all the time and is quite clumsy (though the casts don't help).  We just received her results from her six month GI check up and her transglutaminase levels decrease by half, which is wonderful!! And amongst all this craziness, is a beautiful little girl who is so brave and absolutely amazes me everyday.

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