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!                                      

 

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. 

Saturday, February 16, 2013

Bye Bye Breastfeeding!

Yes, it's official.  After three and a half years of nursing, Brendan weaned himself in December.  I knew our nursing relationship would be ending soon, but I was caught off guard when it actually happened.  Brendan cried himself to sleep for two nights and on the third night, he fell asleep without nursing at all.  I had read about self weaning but didn't think it would happen for us.  After all, breastfeeding had been Brendan's lifeline for so long.  It was the one constant he could depend on for nutrition, comfort, and healing. 

Of course, I am thrilled Brendan no longer has to rely on me to help maintain his nutritional needs.  He is happily eating meats, fruits, veggies and dairy.  Although I have to admit, I now understand how a newly weaned child must feel.  I was not prepared for Brendan to stop nursing.  If I had known I would be nursing him for the last time on that December evening, I would have cherished the moment more.  I cried for a week after, missing that special bond we called our FPIES safety net. 

I am thankful I was able to nurse Brendan for as long as I did, thankful I didn't cave to those who felt I should stop breastfeeding and push the food trials more.  Most of all, I am thankful Brendan had an easy time with the weaning process.  I couldn't ask for more!