Tuesday, December 31, 2013

2013, A Year of Revelation and Reflection

It has been so long since I have posted and so much has happened.  I have wanted to blog but just haven't been able to find the right words to describe our journey in the last year.  When I last posted, I was pregnant with Brendan's little brother, baby #5.  We had just found out Brendan has autism and MTHFR.  I was too scared to talk about my pregnancy because I knew there was a good chance he would also have FPIES...and he does.  Benjamin is his name and he is now 6 months old.  We have been busy with a newborn and all that is involved with getting an FPIES diagnosis for him, after much personal denial.  Ben has reacted to food proteins through my breast milk, which Brendan rarely did.  I am on an elimination diet and consume only fruits and veggies with occasional meat.  After doing so, Ben is now at baseline and doing very well!  My blog, our lives, have changed in ways that I cannot even begin to describe but I will do my best to summarize.  I will follow with additional posts to go into more detail about our experience for those who are interested in learning more.  I originally started this blog for many reasons.  My goals were to raise awareness, share with other FPIES parents and lastly have an outlet for my emotions.  What has resulted is a journey with twists and turns and we will be forever be changed as a family. 

Brendan has MTHFR, a genetic mutation which affects methylation among other things.  He also has autism and dyspraxia which has kept us pretty busy with three hours of ABA therapy five times a week and physical therapy twice a week.  He is supposed to have speech, vision and occupational therapy as well but there are only so many hours in the day.  We decided that ABA therapy would be a good blend of each of these required therapies in order to avoid overwhelming Brendan.  ABA therapy has by far helped Brendan in his autism journey.  There are days when I feel I have lost my son to the autism diagnosis and all the therapies it requires.  I'll save this for another post though.

Just when I thought I had a good understanding of MTHFR, we decided to order a 23andme kit and get genetic testing.  Yes, 23andme is controversial.   Would I have preferred to get his genetic information in a more conventional way complete with genetic counseling?  YES!  As scary as the results have been, not knowing and going in circles with doctors for the last four years has been even scarier.  Fast forward to present day...I have Brendan (and my) genetic reports in my hot little hands and I am sorting through them.  Basically, Brendan has many mutations in methylation, detox and mitochondrial nuclear genes.  Most mutations are heterozygous sprinkled with homozygous.  The homozygous mutations are what trouble me the most...especially since they deal with mitochondrial genes such as NDUFS3, 7 and 8.  He is also hetero for ACAT.  Needless to say, we have two appointments set up for next week...one with our naturopath who specializes in methylation and the other with the biochemical genetics department at Seattle Children's.  Yup, we've been there before since the head GI at Children's wanted to rule out metabolic issues almost three years ago.  We've also seen the hematology dept. for Brendan's unexplained iron deficiency anemia.  What has changed since then?  Well, autism, low muscle tone, inability to break down food protein (FPIES), fatigue, coordination disorder (dyspraxia), vision problems (severe strabismus almost causing vision loss in one eye), unexplained chronic diarrhea and now genetic mutations that link specifically to mitochondrial disease has brought us full circle.  I have always been concerned over the fact that Brendan gets terribly ill with simple colds and it takes him an incredibly long time to recover.  He also struggles with any amount of physical activity, even something as simple as walking from a parking lot into a store.  What am I hoping for?  I hope and pray that although Brendan has these mutations, he never shows signs of mitochondrial disease, even though the symptoms are already there.  I also pray that my other four children do not have these same mutations.  We have ordered their 23andme test kits and will be sending them off pretty directly.

Justin and I have been so overwhelmed with all this discovery that we can't see straight most days.  We are struggling to make heads or tails of Brendan's health issues and now Benjamin's as well.  It has already been recommended that I exclusively nurse baby Ben for the first year and avoid solids.  He also has MTHFR which means he has other gene mutations so we are not touching immunizations with a ten foot pole until we know how he processes toxins.  I went so far as to have a natural child birth with no medical intervention, not even vitamin K or HepB shots after birth.  I didn't see the point in pumping our baby full of aluminum and other adjuvents at birth when we knew he was at risk for MTHFR, autism and FPIES.  I wish I knew all these things when I had Brendan.  I firmly believe it would have made a difference. 

So now what?  Well, we recently made the decision to move back to Texas.  My family lives there and Justin's family is just a few hours away in Oklahoma.  After almost eight years of living in Seattle and four of them dealing with FPIES, we are done.  The first three years were a fun adventure but the last four and a half have been mostly an emotional blur.  We love how progressive Seattle is and I would have never gotten as far as I have in Brendan's medical journey without the amazing alternative medicine support.  Did I mention we are seeing a naturopath who taught Dr. Ben Lynch about methylation back in his Bastyr days?  Anyway, Seattle has afforded me the education to alter my family's lifestyle in order to support my two youngest boys in their journey and as much as I've struggled here, it happened for a reason.  The next step is to get to the bottom of Brendan's health issues and move our family back home.  By the way, if anyone has any recommendations for a good naturopath and autism therapies, please let me know.  It will be hard to let go of the medical support we have found.  I don't know what's ahead for us but I do know we will get there.  Thanks to all who support and read my blog...there will be more posts to come.  Happy New Year from our family to yours!                                      

 

5 comments:

  1. We had spoke about your son some time ago. All this info can be so overwhelming. Do you mind sharing what doctor you see in Texas, as we live there too? C. Miller

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    1. Hello, due to the complexity of Brendan's issues and additional testing, we have delayed our Texas move to June. All of Brendan's doctors are here in Seattle with the exception of one of his allergist's, Dr. Drew Bird in Dallas.

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  2. I looked up the dr., the facility sounds promising. How does he do with Brendan's condition? Is the place up to par with the FPIES being more than just food? How do they respond to that?

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  3. Dr. Bird is a wonderful, caring doctor and his staff is great as well. I have not updated him on Brendan for quite a while since we have run into more diagnoses than just the FPIES. I plan to run several things by him when I have an opportunity. I can give you more information offline in email if you would like.

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