My Story Continues... (MTHFR)

Let's start by saying I AM NOT A MEDICAL PROFESSIONAL!  I am a strong believer in doing as much research as you can on your own and being your own advocate.  You can't always depend on Dr.'s to hand you all of your information, but it IS important to find a physician you trust and consult with him or her before self-diagnosing or starting any type of treatment!
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Early this week I was diagnosed as having one copy each of two mutations of the MTHFR (“methylenetetrahydrofolate reductase") gene.

This is common cause of miscarriage and more than likely the cause for our loss.  I was really quite surprised be this, as I have had not one, not two, but three healthy pregnancies (which I am SO grateful for!) prior to this discovery.  The Dr. even acknowledged that it was strange that I'd had no problems from this before now.  I know that there's no way anyone could have known because we had no reason to check for this particular problem before, but regardless, I have really been struggling with the guilt of knowing it could have possibly been prevented had we known.  There are several different possibilities and combinations of mutations that you can have and (while not terribly well researched) its estimated that as many as 1 in 2 people have some form of mutation.  I tested positive for one copy of the C677T mutation & one copy of the A1298C mutation.  That means I am "compound heterozygous".  Because this is passed through genetics it also means that either one of my parents has both of these mutations or both of them have one each.  It also means that my kids may have this mutation as well, so we know to check if need be...One of the main things this condition does is cause an individual not to be able to break down folic acid (particularly the synthetic form like in prenatal vitamins) into a usable form.  It can cause toxins to buildup in your system over time especially if you have a diet high in processed foods, saturated fats & exposure to heavy metals.  I really don't understand how it all works together.  I still have a LOT of learning to do, but I've already found a whole long list of conditions related to having a mutation of this particular gene.  Here are some of the things that have been linked to this gene being mutated.

Any mutation of this gene can lead to:

* Problems clearing heavy metals (i.e. lead, mercury & aluminum)
* Increased risk of cancer
* Blood clotting disorders
* Propensity to addiction

677 mutation can cause increased risk of:

* Miscarriage/ Still births
* Pre-Eclampsia
* Neural tube defects (Anecephaly, Spina Bifida, Cleft lip)
* Elevated homocysteines (an amino acid)
* Cardiovascular disease
* Stroke
* Deep vein thrombosis

1298 mutations can cause increased risk of:

* Depression/ anxiety
* Irritable Bowel Syndrome
* Chronic Fatigue (perhaps due to toxin build-up?)
* Migraines
* Dementia
* Schizophrenia
* Parkinson's

Having both makes one even more prone to any number of these issues along with having more severe symptoms!  This is a LOT of information, and I need to decide how I want to proceed... I may incorporate what I find here, or I actually start a separate, but linked, blog specifically for MTHFR stuff...  We'll see ;)  For now, here are some of the sites I've found.


Sources:
Genetics Home Reference: MTHFR
Web chart of MTHFR related health issues
MTHFR.net
Stop the thyroid madness
Dr. Myhill (this one isn't necessarily about MTHFR, but it is about methylation- which is what's interrupted by having a gene mutation.)
Dr. Jones

{Since this post I have been put on a new regimen.  I'm excited to see how it helps! You can read about it here}