Friday, January 17, 2014

A mom's thoughts on FPIES and genetics

I’m sitting in front of my laptop with so many thoughts and feelings running through my mind….my hands are shaking.  As I mentioned in my last blog post, it is suspected that Brendan has mitochondrial disease.  We saw the biochemical genetics department at Children’s last week and we have reason for concern.  Our doctor has ordered mitochondrial genetic testing for Brendan in hopes of providing us with some answers.  Between insurance approval and the turnaround time for testing, we will have to wait three months for answers.  Although realistically, we will be faced with more questions along with the answers. 

So, now we are backtracking…looking through old medical records, revisiting all of Brendan’s past diagnoses to put the pieces together.  Do I want my child to have mitochondrial disorder?  Of course not.  I think in my heart I’ve always known this is what he has…but I didn’t have a name for it.  Brendan’s energy level, low muscle tone, vision problems, coordination/balance disorder, FPIES, and autism all fall within the symptoms of mitochondrial disease.  Why didn’t I figure this out before?  Why didn’t the biochemical genetics department tell me it is possible to have normal labs even when a patient has mito disease?  Why didn’t they recheck/follow him since he had all the other symptoms?  It frustrates me that I also overlooked this and didn’t get him help sooner.  I am also looking into mast cell activation disorder since there can be an overlap between this and mito.  It is also possible for mitochondrial disease to rear its ugly head as a result of oxidative stress from chronic gastrointestinal illnesses. 

Thankfully, we have found another amazing naturopath to add to our menagerie of alternative doctors.  This doctor will be treating Brendan’s MTHFR with supplementation recommendations similar to the mito cocktail that is so often prescribed by medical doctors.  In the meantime, I am following several mito Facebook groups and finding a common thread…food allergies and intolerance, even other FPIES patients who are now teenagers.  Add this discovery to the gastrointestinal issues that I see in the MTHFR groups and bingo, there’s the link for our situation.  We had 23andme testing done and Brendan and I have similar mutations that affect gastrointestinal, methylation and detox but our homozygous mutations is where I see that his FPIES symptoms are more chronic/severe and mine present differently.  I am also learning that based on these mutations, certain foods should be included/avoided.  For example, if you have a CBS mutation, you should be careful with sulfur foods.  If you have some of these mutations, diets such as GAPS and fermented foods may need to be tweaked according to the individual’s histamine sensitivity.  This is why nutrigenetics should play an integral part in the treatment of FPIES.  Naturopaths have come to this conclusion and now we need everyone else in the medical community to jump on board.  I have two boys with FPIES and we stopped trying to figure out food trials long ago.  There is no rhyme or reason to FPIES reactions because our children cannot be put into one bucket or put under a list of acute or chronic reactors.  I have two FPIES kids who have both acute and chronic reactions.  We made less progress when we were focusing on common safe food lists and just waiting for Brendan to outgrow it. 

Then there are those FPIES kids who either have autism or autism like tendencies during food reactions.  Why do you think that is?  The answers all lie in our genetic makeup and nutrigenomics.  Even though the 23andme testing experience has been scary for us, it has also provided us with answers.  I wouldn’t advise doing the testing unless you have a naturopath who has a good working knowledge of it.  Otherwise, you will drive yourself crazy and spend countless hours researching every SNP.  I apologize if my post is difficult to follow since I am only grazing the surface.  If you are interested in learning more, read up on MTHFR, mitochondrial disease, mast cell activation disorder and autism.  Your child may not be affected by these disorders, but it will help you to learn how important gene function is in regards to gastrointestinal health.  We have to educate ourselves so that we can find the medical support to treat our children as individuals.  I’m personally tired of barking up the wrong tree.  I’m tired of watching my son fall through the cracks while no one else has to be accountable.  It’s time to spread awareness.  I started an MTHFR and FPIES Facebook page months ago and haven't done much with it.  Feel free to join me there if you'd like to share experiences.  I am also including a few links that discuss the importance of methylation and detox functions to support overall health.