Friday, March 8, 2013

Knowledge is Power...

Or is it?  What purpose does knowledge serve when you lack a treatment protocol for an existing chronic condition such as FPIES and then another alarming discovery rears its ugly head?  Oh, where do I even start?  We took a break (for the better part of the last year) from doctor visits and lab tests after learning Brendan still has FPIES to rice.  We accepted that FPIES would remain a big part of our everyday living, and resolved to focus on successes such as the addition of dairy instead.  Nothing more could be done for Brendan's FPIES so why not take a break and just be? 

Fast forward to January of this year.  Yes, stupid me, against my better judgement, I gave in to the hype about this year's flu season and had Brendan immunized for influenza for the first time.  Big mistake.  After the vaccine, he began stimming and stuttering more than usual.  I had already planned to take him back to our naturopath to have his vitamin D and iron levels checked but the sensory issues made me move a little faster.  I have always felt in my gut that although Brendan is tolerating some foods, he must still be malabsorbing on some level.  It is hard to pinpoint especially since he does not show gut inflammation via standardized tests.  After discussing my concerns with our naturopath, she ordered tests to check his vitamin D, iron, heavy metals, and something called an MTHFR test.  MTHFR is a gene which produces an enzyme (also called MTHFR) which supports methylation.  For example, a person consumes folic acid and MTHFR is responsible for ultimately converting it to L-methylfolate.  MTHFR has more than 50 gene variants and there are a few common ones doctors test for such as C677T and A1298C.  Some naturopathic doctors perform the test when symptoms of ADD and autism are present.  Brendan previously had biochemical genetic testing performed at our local hospital in hopes of identifying a genetic abnormality associated with his FPIES but the MTHFR test was not included.  Long story short, the MTHFR test identified a single mutation of C677T for Brendan.  What does this mean?  I am stumped at this point because I am just learning about MTHFR.  It is an enzyme deficiency prompted by an MTHFR genetic mutation.  What I do know is this is another diagnosis with little research and no standardized treatment protocol.  Typically, NDs recommend methyl B12 injections in order to support methylation.  My concern is Brendan has other issues such as high levels of aluminum which may need to be addressed first as this can be one of the side effects of an MTHFR deficiency.  The body loses the ability to detoxify metals, gluten, and other toxins which in turn means Brendan is not a candidate for immunizations as they contain aluminum and other metals.  Preservative free immunizations are an option but not high on my priority list at this time.  Additionally, patients with MTHFR deficiency are told to avoid nitrous oxide, fish oil, sulfates, synthetic forms of folic acid (found in processed foods and supplements), certain antibiotics, and dairy for various reasons.  

Back to Brendan's test results...aside from the MTHFR mutation/deficiency and high serum aluminum level, his glutathione level (also can be MTHFR related) and his red blood cell count is low.  Maybe I'm reaching but is it possible that Brendan's FPIES is related somewhat to MTHFR?  If MTHFR enzyme deficiency inhibits the proper processing of folic acid etc. and ridding the body of toxins, wouldn't it make sense that immune disorders and inflammatory bowel disease could be a resulting symptom/side effect?   It seems to me genetic issues such as MTHFR set the stage for a predisposition and/or heightened sensitivity to things like adjuvents in immunizations and food intolerances...especially when foods are processed and riddled with chemicals.  I suppose this is the reason I am reading about GAPS and Paleo dietary recommendations for MTHFR patients.  Brendan is already following GAPS/Paleo with the exception of dairy and consumes a crazy amount of berries which also contain naturally occuring folate.  He avoids gluten and takes a probiotic supplement along with a bioavailable form of vitamin D.  I suppose the next step is to request more in depth methylation testing so that we can identify any other genetic mutations before deciding on methyl B12 injections since not everyone is a responder to the injections and if other mutations are present, B12 injections could do more harm than good.  We will also revisit with Brendan's hematologist so that we may address the low red blood cell count/anemia again. 

Meanwhile, I am desperate to find anyone else who has had their FPIES child tested for MTHFR.  Gut healing is recommended before MTHFR treatment begins but how do you facilitate that with a chronic FPIES kid whose condition has not resolved with probiotics or special diets?  Good grief, Brendan still has diarrhea daily and has never had a formed bowel movement.  I would like to try eliminating dairy from his diet to see if things improve but I hesitate for two reasons.  First, he had the diarrhea and other issues long before dairy and second, dairy is a protein source he depends on.  I can switch him back to almond milk but he would lose foods such as yogurt, cheese and sour cream.  Lots to think about and even more to research.