Sunday, 30 September 2012

MTHFR - Connecting the dots

 
When the tears dry enough for you to see through them, it is natural for us to look back and ask, what happened?  And there are more answers than we think.  One of the answers lies in the MTHFR gene mutation that many children with autism have.



The MTHFR gene mutation argument starts at conception.  Per Benjamin Lynch, NDof www.MTHFR.net ,  “Folic acid supplementation while pregnant is old news.  Women need to supplement with L-5-MTHF and Folinic acid – not folic acid.”  Folinic acid is the broken down form of folic acid.  It is estimated that about 25% of the population has a MTHFR gene mutation which has many adverse effects.  One of the effects is the inability to break down folic acid and it must be supplemented in the form of “methyltetrahyrofolate” or “metafolin” or “folinic acid”. When the body cannot break down folic acid, you end up with high levels of homocysteine.  The effect of high homocysteine takes many forms and they are still being discovered.  But here is what we know:

The effects of a MTHFR gene mutation can be:
Blood clots, stroke, depression, autism, bi-polar disorder, cardiovascular disease and infertility or several miscarriages. 

And how is the gene mutation “turned on”?  Usually methylation is inhibited by Candida overgrowth in the GI tract.  And what is the #1 Cause for Candida (or yeast)?  Heavy metals…Yup…there it is again.  The Autism and Heavy Metals connection. 

Now to connect the dots…..

For us, it took over a year to conceive to our first child, and I was fairly young…still in my twenties.  When we finally did, I was so incredibly sick for the entire pregnancy that I could barely function.  She was born at 33 weeks (7 weeks premature) and had an in-uterine stroke that left her with brain damage in two quadrants of her brain.  Seven doctors could not determine why it happened….but it did.  Yes, she was premature, but a stroke is not common for a baby at this gestation. 

A year later, I had a miscarriage.  And six months after that I had an ectopic pregnancy that ruptured, requiring emergency surgery and I lost one of my fallopian tubes.  I could have lost my life.  At the time, I chalked it up to bad luck and went on fighting my daughter’s severe autism. 

Then, when my daughter was about 2 ½, I brought her to a kinesiologist who found that she needed methyltetrahyrafolate or folinic acid (NOT folic acid) because she could not break down folic acid.  We started giving it to her but I still was not connecting the dots.

Shortly after that, I got pregnant yet again with my second daughter and was again deathly ill at only 5 weeks.  The kinesiologist saw me right away and found that I too needed methylfolate (L-5MTHF) acid.  He likely saved my second daughter that day.  I started taking it and my sickness was not as bad as it was with the first.  Although I did go into premature labor at 34 weeks, and was required to be on bed rest, she was born at 39 weeks, a very healthy baby.  She later developed sensory processing disorder and was also found to have a MTHFR mutation and needed supplementation with folinic acid.

And years later, I took methylfolate, the broken down form of folic acid when we became pregnant with my third child.  However, I was not very good about taking it when I got sick, and I went into preterm labor at 29 weeks.  I was required to be on bed rest for the rest of my pregnancy.  I delivered a beautiful, healthy boy at 39 weeks.  



With the ease of genetic testing, I have found that my own problem does not lie with MTHFR as it does with my children and husband, but with the DHFR gene of which I have several mutations.  The DHFR gene mutation is directly related to not being able to break down folic acid into L- methylfolate. The DHFR gene is responsible for the first two steps of the transformation of folic acid into folate that the body can use.  Since I have mutations on this gene, I cannot break down folic acid (the synthetic form) at all and need to supplement with methylfolate and eat lots of folate in my diet.  

Most recently, with genetic testing, my husband has been found to have both MTHFR gene mutations (A1298C +/- and C677T +/-) as well and he too needs supplementation with methylfolate.  With my husband affected with MTHFR....and me, affected with DHFR, it is no wonder my kids have problems with breaking down folic acid and detoxifying.  In fact, my daughter with autism has a MTHFR A1298C (+/-) gene mutation, several DHFR (+/-) gene mutations among many other mutations that affect methylation pathways. 

However, we know now that it is possible for a gene mutation to be “turned on” and “turned off” with environmental factors.  So what can you do if you suspect a MTHFR gene mutation?

#1 – Get a geneticist to run the tests to look for a MTHFR gene variation. Or www.23andme.com tests for methylation SNPs.  You download your 23andme results into genetic genie to get methylation information. It is only $99 and is a spit test. This is what I did.  LiveWello can also interpret your raw data from the 23andme test for you.  Or, you can order a testing kit through mthfr.net 's site.

*And please be advised that testing levels of folic acid in the blood does NOT tell us anything.  Most ASD kids have normal or high levels of folic acid in the blood.  This is because they cannot break it down.  The only true measure of your child’s folic acid is measured with a spinal tap and that is very invasive.

#2 – Treat the Yeast.  Eat a low sugar diet with more healthy fats like coconut oil, olive oil & avocado and less grains and carbs.  Yeast feeds on sugar & carbs.  Use Grapefruit seed extract (GSE) and Oil of Oregano to kill the yeast, then replenish the good flora with probiotics. Give probiotics at LEAST 4 hours apart from the anti-fungal.

#3 – Take Methyltetrahydrafolate.  I like FolaPro by metagenics.  Often it is very good to supplement MethylB12 in conjunction with Folinic acid because of the folate trap.  Seeking Health makes a great one that dissolves on your tongue so it is great for kids! http://www.seekinghealth.com/active-b12-lozenge.html  .  Some kids with autism will improve significantly when put on a broken down form of folic acid.  My daughter certainly did.



#4 – Consider AC Chelation.  This is extremely low dose chelation that is safe and is given on a time schedule per the half-life of the chelator.  For more information on this, see www.recoveringkids.com.   Removing the heavy metals from the body and brain is the only way to possibly reverse the effects of the gene mutation.

#5 - Most importantly....please know that this mutation makes detoxification difficult for the body.  So, go green and keep toxins away!

So, there it is….Will you hear this from your child psychologist?  Likely no.  Will you hear this from your child’s pediatric neurologist?  I sure hope so, but likely not yet.  However, the studies have been coming fast and furious this past year on MTHFR….so hopefully, awareness is on the horizon.

I have included some of them below along with some great sources for information on MTHFR.  Happy Healing!

UPDATE: 

Many of you have asked how taking methylfolate with methyl B12 has helped my daughter.  This was not an over-night "wow".  It takes some time for the folate to build up to an acceptable level in the body.  We saw slow and steady gains with speech and cognition and socialization.   I see more irritability in her little sister when she does not get her methylfolate and B12 in the morning.

Sources:

Benjamin Lynch, ND of www.MTHFR.Net
http://mthfr.net/mthfr-and-methylation-presentation-pdf-version/2012/06/06/

http://ghr.nlm.nih.gov/gene/MTHFR

https://www.facebook.com/mthfrsupport?ref=ts&fref=ts


Association of MTHFR Gene Variants with Autism 
Journal of American Physicians and Surgeons Volume 9 Number 4 Winter 2004
the compound 677CT/1298AC
heterozygous mutations were more prevalent in the autistic
population, 25%, than in controls, 15%


MTHFR C677T polymorphism and recurrent early pregnancy loss risk in north Indian population
Reprod Sci. 2012 Feb;19(2):210-5. Epub 2011 Dec 2. http://www.ncbi.nlm.nih.gov/pubmed/22138544

MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations. 

Childs Nerv Syst. 2011 Apr;27(4):665-9. Epub 2010 Nov 27. http://www.ncbi.nlm.nih.gov/pubmed/21113717
The association between first trimester micronutrient intake, MTHFR genotypes, and global DNA methylation in pregnant women.
 J Matern Fetal Neonatal Med. 2012 Feb;25(2):133-7. Epub 2011 Mar 28.http://www.ncbi.nlm.nih.gov/pubmed/21443409
 
Meta-analysis of MTHFRgene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: evidence for a common genetic vulnerability?
Brain Behav Immun. 2011 Nov;25(8):1530-43. Epub 2010 Dec 24. http://www.ncbi.nlm.nih.gov/pubmed/21185933











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