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.
http://www.heartfixer.com/AMRI-Nutrigenomics.htm#COMT: Catechol–O–Methyl Transferase and VDR: Vitamin D Receptor
http://www.ncbi.nlm.nih.gov/pubmed/16195369
http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/83301
http://www.ncbi.nlm.nih.gov/pubmed/16195369
http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/83301
Hi Brenda -
ReplyDeleteI came up on your blog as I researched Dr. Bird and FPIES. We are seeing Dr. Bird in a week. My son is almost nine months old and we already know he is a sensitive little guy. He has MSPI, GERD, and I'm pretty certain he has FPIES as well (he threw up 20x within 30 minutes a few hours after giving him oatmeal). I have MTHFR (found out during my pregnancy) and have been reading about its connections to other conditions, and how it could be the culprit of my son's GI issues. Thanks for sharing your stories and the info on MTHFR. Do you all still see Dr. Bird? Would love to get your thoughts when you have some time.
-Cristina
Hi Cristina, sorry your little guy has FPIES but it sounds like you are finding good support. How did your appointment go? We haven't seen Dr. Bird in quite some time since we live in Seattle. We'll be moving back to Texas in a few months and will touch base with him about Brendan as well as my nine month old baby who also has FPIES. Let me know how things are going for you. Take care. Brenda
Delete