Wednesday, February 28, 2018

Rare Disease Day

It's hard to believe it's been almost three years since I've blogged about B and his FPIES.  So much has changed while some things have stayed the same.  He still has FPIES to rice but we've learned to manage it and read food labels better than any government agency.  B has had other diagnoses tacked on over the years and we've come to realize something about FPIES.  Although it has consumed a large portion of B's life, we also know FPIES is a serious symptom of something more.  I'm not making light of FPIES since we know all too well how deeply it affects a family.  I hope a root cause is discovered but until then, I can only share our FPIES experience.

I have two kiddos who presented with FPIES, who each had genetic testing and share the same characteristics, but we went two different routes with them.  If only we had understood how the immune system works and the implications of continuing vaccinations and food trials which agitated his immune system.  By the time we stopped food trials and vaccines, it was too late.  The damage had already been done.  On the other hand, my other little guy with FPIES through breast milk, thrived when I went on a total elimination diet and figured out all his triggers.  We also delivered him with no medical intervention except a midwife and no vaccines.  His FPIES resolved quickly and he is the healthiest of all five of my children.  I believe FPIES is a result of an assault on the immune system from various environmental factors experienced by mom and baby.  I believe we are doing a disservice to our children when we don't take the time to understand and screen for genetic abnormalities, mitochondrial and immune dysfunction.  Because we screened my littlest FPIES guy and worked with doctors who understood that FPIES was not the root problem, we were able to support his immune system naturally instead of adding fuel to the fire.

I won't go into the details of what daily life has been like for our family since FPIES and subsequently autism entered our lives.  Those who have followed my blog over the years know all too well.  I won't dare look at the old blog posts.  I tear up at the thought of what my little guy has been through.  I still sometimes mourn what FPIES and autism took away from my family.  We've had more good days in the last year but we still live a very different existence.  My perspective has changed though.  I choose to see the positive and look at every challenge as an opportunity for further healing.  I've had the joy of watching my guy grow to be this amazingly loving and smart boy even though the odds are stacked against him.  He still has a way to go in healing, but over time, he has regained many of the skills lost as a toddler and tolerates many foods.  As a family, we are stronger than ever and I thank God every day for my compassionate children who rally around their brother and a supportive husband who has been there through thick and thin.

I know there are other families out there with a similar story.  I meet them all the time in online support groups and in the community.  It makes me sad to hear families still struggle to get a proper FPIES diagnosis from the medical community at large and that is why I'm blogging today.  It's National Rare Disease Day and I love someone who is rare.

Friday, February 20, 2015

Why We Say No to Vaccines

I never thought I would be in this place…this isolated existence where everything I do for my family is met with criticism and judgment.  We are criticized for eating gluten free and dairy free and avoiding as many GMO foods as possible.  We are made to feel as if we are a bother, an inconvenience when we ask for an ingredient list prior to eating a meal.  There is no enjoyment in eating anywhere other than home.  I have anxiety every time we leave the house so most meals are eaten at home or packed to go.  Yet this is just a tip of the iceberg.

I haven't even begun to discuss the judgment we face in regards to our choice in alternative medical care and our stance on the current vaccine debate.  We choose alternative care because western medicine can’t put Brendan’s medical puzzle pieces together.  We choose an alternative route and continue to see new health practitioners because we can’t give up on my son.  Our goal for him is simple.  He is a precious little boy who deserves the best in medical care and therapies so he can have the best possible outcome.  We don’t know if Brendan will ever be able to live on his own as an adult.  Justin and I are faced with these eye opening issues constantly.  Justin spends the day working hard while trying to help me with research and caring for Brendan in between.  We eat, breathe, sleep and repeat this cycle.  Every day.  No one really sees what we encounter at home.  We put on our game faces when we leave the house.  We have seen what food reactions and vaccines can do to make daily life worse for Brendan.  He cannot tolerate another vaccine because regression in physical health and behavior is the price he will pay.

Most don’t believe vaccines can cause adverse reactions.  We are fortunate that a few health care professionals have documented his reaction.  It doesn’t mean our parental rights are protected though.  We are on the verge of losing the right to keep Brendan safe.  No one in my family can get a live vaccination such as chicken pox, MMR or the nasal flu vaccine because there is the risk of viral shedding which is enough to infect an unvaccinated child or one with immune issues which Brendan is both.  So, what happens to Brendan’s older siblings if exemptions are no longer allowed?  They lose the right to attend school if we can’t find a way to comply while protecting Brendan.  In WA state, they are trying to do away with exemptions and here in Texas, they are actively trying to repeal religious exemptions.  So, those who avoid vaccines because they were made with aborted fetal cells, you will also lose your right to choose.  Yes, vaccines are made with aluminum, human diploid cells, monkey liver cells, and guinea pig embryo cells in addition to other questionable ingredients.  After receiving the recommended vaccines for the first three years, Brendan had high levels of aluminum that could not be explained.  His levels went back to “normal” last year.  We did nothing different except decline further vaccinations during well child exams.

If your child can tolerate vaccines, that’s great.  I have three older kids who did okay as well.  But I also have one who didn’t do so well.  There are many of us out there who have first hand experience with vaccine reactions and/or injury.  This shouldn’t be a debate of who’s right and who’s wrong.  The vaccine program is not a one size fits all deal but no one will budge to question the vaccine manufacturers let alone the government agencies who are allowing this assault on a minority of children.  However, I am being asked to make my child a sacrificial lamb for the greater good.  How is this fair to my son and the rest of my family?  Why is it that we are not allowed to sue the vaccine manufacturers or the doctors administering these vaccines?  They were granted immunity.  If you think the measles outbreak is a public health concern, wait until all of our vaccine affected kids with disabilities become adults and need government assistance.  Why doesn’t anyone see the alarming increase in autism as a public health concern?  I am saddened by the fact that the vaccine debate has become a political issue and the real concerns are being overlooked thanks to the scare tactics of the media and government.  Where have all the good guys gone?  What is going to happen to children who cannot tolerate vaccinations but will be forced to receive them?  I know from experience there is no one waiting in the wings to help families like ours in the aftermath of vaccines.  I ask myself every day what it will take for change to happen.  It’s not looking good from where I’m standing.

Tuesday, April 22, 2014

Antibiotics and the FPIES child

This spring has been rough for our family in regards to respiratory allergies.  Tree pollen is definitely not our friend.  After weeks of allergy symptoms in both Brendan and Ben, they developed ear and eye infections which required antibiotics.  Brendan has only had antibiotics once when he was an infant and we had to stop them due to a reaction.  Thankfully, it was only a lower GI reaction but it left him with a skin peeling, bleeding diaper rash for two weeks.  He was prescribed amoxicillin. 

Last week, our doctor prescribed zithromax for Brendan and amoxicillin for Ben.  Brendan has done well with zithromax but poor Ben had the same reaction to amoxicillin as Brendan.  After twenty-four hours on amoxicillin, Ben had green, mucousy diarrhea and a bad diaper rash that made him scream for two days.  We contacted our doctor and he advised us to stop taking the antibiotic and just see how Ben heals on his own.  I was also taking amoxicillin for a sinus infection but stopped since I am still nursing Ben.  I should have followed my gut and really pushed for an antibiotic shot for Ben from the start.  I try to tell myself Ben is different from Brendan and that I shouldn't assume the outcome will always be the same.  I should probably stop doing that and just follow my gut instead. 

I am making my "to do" list in the event we need antibiotics in the future.  *Please note that you should always consult with your physician about your individual case since any information in my blog posts only pertain to our own medical experiences.  This should not be considered medical advice.

1.)  Increase the dosage of daily probiotics.  Be sure to add Saccharomyces boulardii which has been proven to prevent/decrease antibiotic associated diarrhea in clinical studies.  Here is a link with more info on Saccharomyces boulardii.

2.)  If Amoxicillin is recommended by your doc, discuss the potential for a reaction to penicillin. 

3.)  If your child has an oral aversion, consider Zithromax since it does not contain penicillin and only requires a single daily dose for five days but continues to work for ten. 

4.)  Ask for the ingredient list and/or request for the oral antibiotic to be compounded.

5.)  If your instincts tell you to bypass the gut completely, opt for an antibiotic shot (Rocephin).  Typically for infections such as the ears, only one shot is required.

6.)  Don't trial any new foods while administering an antibiotic because it will be impossible to know what your child is reacting to.

Benjamin did well with the antibiotic shot yesterday.  I nursed him while he got the shot and he didn't cry at all.  The diarrhea has stopped and now we are working on healing the diaper rash.  We were trialing chicken broth and chicken puree but stopped when he started the antibiotic.  I am thankful we had Benjamin on probiotics during this time.  I would hate to think of how much worse the reaction could have been.

Monday, February 10, 2014

Save Little Michael

Normally, I blog about living with Brendan's FPIES and other diagnoses.  Today, the focus of my post is on a little boy named Michael Gonzalez.  Brendan has never met Michael, since his family lives in Florida, yet they have a lot in common.  FPIES and mitochondrial disease is the common thread for these two 4 year olds.  Brendan is at the beginning of his journey with mito but we are no strangers to rare and difficult to treat diseases. 

Although I wish I had connected with Michael's mom, Jennifer, under better circumstances, I am thankful to know her.  She is an amazing mother who fights every day for her son.  Little Michael has a rare form of mitochondrial disease called mitochondrial neurogastrointestinal encephalopathy disease or MNGIE.  Until recently, Michael's only safe food was the unflavored form of Neocate Jr formula.  Last year, the makers of Neocate (Nutricia) changed something in the formula even though they won't admit it.  Michael lost his only safe food as a result.  He has less than 100 cans left and when that is all gone, he will only have one brand of hemp hearts (Manitoba Harvest) and one brand of sugar (Florida Crystal Organic Cane Sugar) to keep him alive.  Hemp and sugar is simply not enough to sustain a child.  Meanwhile, Michael's family is raising funds for an experimental bone marrow transplant which has the potential to reset Michael's genetic errors and help him to live longer.  The doctors believe his baby brother is a match.  In order to begin the process of testing, the family needs to raise $50,000.  The total process will cost $300,000.  Insurance will not pay for it.  This is Michael's only chance to be able to eat food some day. 

So why am I getting involved?  We hear about heartbreaking stories every day and go about our business.  I think we are all guilty of doing that.  This is different though.  Michael's story hits close to home.  I have a child with these same diseases.  My husband Justin and I understand how scared and isolated Michael's parents must feel.  For four years, we have had no answers, only more diagnoses to add to Brendan's complicated list.  We don't know what the future holds for our son now that mitochondrial disease is in the picture.  What we do know is that we can fight like hell to help our son and other children affected by these diseases.  If anyone has ever wondered what they can do for our family, in support of Brendan's FPIES and mito, I have an answer.  Please, please help us to help Michael and his family.  How can you show your support?  You can get in contact with me if you would like to donate money, products/goods, fundraising ideas, media contacts or your time.  You can do something as simple as raise awareness of mitochondrial disease and FPIES by sharing Michael's story with everyone you know.

Justin and I will be holding a fundraiser/candlelight vigil in honor of Michael on Friday, February 28 at 6pm at The Den coffeehouse in downtown Bothell.  Please join us!

Thank you for reading my blog and your continued support of our family's journey as well as other families we meet along the way.  And to Michael's mom...Jennifer, thank you for sharing your mito journey with me as we begin our own.  You are truly an angel.

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.

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 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.