Thursday, January 5, 2017

we can do hard things...

This has been an over 5 year journey of searching and seeking and trying to figure out what is going on with our son. It's been messy, hard, scary, and discouraging throughout the years. Trying to explain to friends and family the behaviors and how they come and go, never being able to find the right words to explain how amazing this little boy is when most of the time they see an anxious little boy with some big behaviors depending on how he's feeling. It's tough, but we can do hard things....
settle in...this is a tad long and a little scientific at times. :)


For us, it really all started after his hospitalization when he was two and a half. I know I've written about it before, but that's when we noticed a huge change in Evan. Not eating very well, defiance, anxiety, obsessive, etc. The other thing we noticed was that he was either okay or really sick. There wasn't really an in between with mild sicknesses. We brought him to the hospital because he had a fever but was super lethargic. We were there a week and then sent home with a picc line for two weeks.

Here is a little more about that stay...
Here, here, and here





Over the last five years we have seen numerous doctors, neuro-psych's, nutritionists, had way too many observations and evaluations . He has had numerous blood draws, catheters, mri's, throat cultures, urine catches and hospital visits and stays. Once school started in preschool, he had to be removed from classrooms, was suspended, and then impulses got worse with hitting, kicking, biting, etc. Looking back, this always got worse when others were sick in the classroom, or someone he was close with was sick. When we knew he was really sick and something was going on, we noticed him trying to head butt others, had suicidal thoughts about himself or hurting others, he had to be safely restrained, had mania, impulses, attention seeking and avoiding behaviors, emotional extremes, food refusal, not sleeping, body pain, rages with nose bleeds, running away, and in constant fight or flight mode. It's been a long road with tons of unanswered questions. We have been diagnosed with Sensory Processing Disorder, Generalized Anxiety Disorder, Oppositional Defiance Disorder, and one doctor who believes Evan has PANS/PANDAS and one who doesn't. I believe in my momma gut he does have that... Here is a little more information about that. I will forever be grateful for Brain Balance where we spent 9 months last year. They were the ones invested in our son and were the ones to bring up PANDAS/PANS to us. So very thankful for everyone who has been on this journey.

This has ALWAYS been an up and down roller coaster ride. It's stressful and scary and hard. It's heart breaking seeing your child struggling and getting hurt and overwhelmed and just not feeling good, but not knowing what to do to help him get better.  We have had SO many unanswered questions, not knowing what to truly think when the symptoms change quickly and how they vary so much, depending on how E's feeling and if anyone around him is sick.

Physical symptoms we notice when he isn't feeling well or starting to get sick is huge bags under the eyes, intense separation anxiety, food refusal, picking at his lip, huge pupils, emotional outbursts that change rapidly...one minute mad and raging and the next crying and needing to be held. We notice that he starts to say "I don't know" for even the most simple questions, he has age regression and then school refusal and handwriting regression and refusal.



2016 has been a year of learning, growth, changes, and health.
We are working to find answers and get him healthy.
This was Evan at the beginning of 2016 and at the end. There have been lots of changes in food, supplements, and school.

We have been using Young Living oils to help keep his immune system up. Using Thieves, Thyme, Oregano, Copaiba, Lemongrass, Frankincense and Release. We are also giving him Ningxia Red for those antioxidants that his body doesn't have. We've been adding YL protein powder to any milkshakes or ice cream he eats as well. We've also upped our Epsom salt baths and oils to try and detox his body since it can't do that on it's own yet...We've come a long way in less than a year and we've still got a long way to go to get the inside of his body and cells healthy.




We have gotten more results back in our fight about getting answers and help for our son within the last week. We also did a 23andme genetics information and our nutritionist has helped us read the results.
We are still diving into what this really means and getting started on the road to recovery. It's overwhelming and scary and honestly makes me wonder how many kids out there also have genetic and nutritional deficiencies and are being treated for other things.

Here is a condensed version of what is going on with Evan's genetics as well as other illnesses and autoimmune obstacles.

So in addition to anxiety, sensory processing, and most likely PANS, we have recently gotten more blood work back within the past week. This is an immune system issue and even if he was eating the best foods, his body would STILL be having a hard time with this. His system isn't letting in the good stuff he is getting and getting it to where it needs to go. Then...it's NOT releasing the toxins in his body, so there has been a HUGE buildup on toxins that aren't getting released. His body is making him sick.

We are still waiting on results for Lyme's Disease and also a stool culture for yeast and bacteria in his gut.


He is positive for
*Coxsackie B Virus #4 (this is not hand, foot and mouth...that's coxsackie a virus)

Low cholesterol, which can show the same behavior symptoms E has been having over the years.

Zinc and Protein deficiency

*Vitamin D resistance, so basically vitamin D is being deflected from his body. He is VDR homozygous, which could also explain his extremely low muscle tone. VDR mutations have an impaired ability to make dopamine and an impaired ability to get rid of it. The body just cannot keep dopamine at the right level. This will result in moodiness, and mood swings. When dopamine is low you will feel all your aches and pains more intensely and have difficulty relaxing even when you are tired. You may find it hard to switch off and find your head is full of thought about what you hve done that day, or have to do, so you cannot clear your mind and go to sleep. Low dopamine kids are more likely to have temper outbursts, get fixed in a mood of anger or agitation (often about something totally unimportant) and end up in total meltdowns. They will typically do all the kind of things that make irritating people tell you your child really needs discipline. Impaired immune fuction is what is going on. People with a VDR mutation will be aware that their immune system does not work as well as other people’s. Vitamin D regulates the balance between the Th1 and the Th2 immune function

*Essential Fatty Acids and Omega 3 oils and DHA are basically non existent and increase inflammation in his body.

*Mitochondrial Dysfunction

*Low in B12 and poor methylation

* KPU or Pyroluria the symptoms of pyroluria have a mysteriously intractable quality to them and may lead to lifelong issues with severe inner tension, ongoing anxiety, poor stress tolerance (with added stress of any kind making the symptoms worse), digestive issues and difficulty digesting protein, frequent colds and infections, joint pain or stiffness, acne, eczema or psoriasis, mood swings and reactivity, poor short term memory, and a tendency in many to lean towards being a loner…among many other potential symptoms.

Severe deficiency in glutathione, which is themaster antioxidant
His body can't release toxins and has poor methylation. Things are really going in or out or getting to the correct place where it needs to help his body. Right now it isn't really even about what he eats or how much he eats, because his body just is fighting against itself and can't release any toxins or detox.




Here is just a little of some of the bigger genetics stuff going on that we wanted to share...

MAO-A homozygous -- These genes function to break down neurotransmitters such as norepinephrine, adrenaline, serotonin and dopamine. His version of this mutation causes aggression, anxiety, impulsivity and poor social skills. Here is more info. This is also a key regulator for normal brain function. 

MTHFR A1298C homozygous -- MTHFR is an enzyme critical in the methylation pathway that converts homocysteine to methionine, folic acid into folate and management of neurotransmitters. Quickly explained, MTHFR is responsible for detoxification. Here is a little more info. I also have tested positive for this gene through the 23andme genetics kit. 
I just learned that folic acid – which is a synthetic vitamin found in fortified foods and almost all vitamin supplements – is considered harmful for people with MTHFR mutations. Though it is easily absorbed by the body, people who have low levels of the MTHFR enzyme are not able to convert very much of it into usable form. So what happens to the unconverted folic acid? It attaches itself to the same receptors in the body used to absorb folate, effectively blocking the body’s ability to absorb any usable folate that is floating around.

MTRR homozygous -- like MTHFR, MTRR plays a critical role in methylation, particularly the methylation of cobalamin (B12). 






Now to continue to fight to get the right treatment and supplements in his body and start the process of improving and getting better.
Man...this kid is a fighter though. He is a warrior and one of the bravest people I know.
His superpowers are amazing and I am so proud of him. 

Would love your prayers as we continue to try and heal our son.
xoxo
-Kasey



6 comments:

Anonymous said...

God bless you

Anonymous said...

My kids are dealing with very similar genetics and symptoms. Have you checked for Lyme Disease yet? We are dealing with congenital lyme.

heather said...

Evan is amazing. You are amazing. Your family is amazing and I know this will be great year for all of you! Love you guys!!

Brooke Worthy said...

Thoughts and prayers are with you. Sounds like a lot of the things we see with Fredrick. Remember you are a rockstar and he is lucky to have you as his momma.

Teresa Vernon said...

Sending you hugs from AZ. I hope 2017 brings you answers and a healthy Evan. I am impressed with your continued search for answers... not everyone would keep plowing the path, but Evan will be so grateful as an adult you forged his way.

I agree with the posts above. You are a rockstar.

Best to you!
Teresa

Sarah Swartz said...

Oh Kasey! All my love and hugs and prayers! I was recently diagnosed with MTHFR mutation as well. It explains so much about my poor health and mental illness issues. It's been a horrible struggle as an adult coping with it so I can't imagine what your sweet son is dealing with! Thank you for the update. Evan has been in my prayers. Stay strong! Youre doing great!!!