MTHFR

Yea Yea i know what that looks like and sometimes that is how I feel about this gene mutation.  I was diagnosed with this in 2007, two years after my blood clot.  This should of been tested with the labs when I had my blood clot, but wasn't.  I got frustrated with my current doctor and switched doctors and that's when I heard about it when I was tested positive.  So what is MTHFR you ask.. well.  This is the best explanation I have found for it.

"MTHFR is a a key regulatory enzyme in the metabolism of folate.  It also refers to a specific gene that plays a major role in the body's methylation process.  Both the enzyme and the gene have the same name, MTHFR.  The gene's role is very complex, and recent discoveries by the Human Genome Project have been focused around the MTHFR gene polymorphisms (or variants).  These polymorphisms are often referred to as 'mutations' or 'defects' because of the problems they cause in the body.  Most often when you hear someone talk about MTHFR, they are actually referring to one of the two common MTHFR gene mutations that causes this MTHFR enzyme to become imperfect and therefore much less effective."  http://www.methyl-life.com/what-is-mthfr.html

This is the best explanation I have found for the symptoms of each mutation, also found on methyl-life.com's website.

 Mutation 677 – Heart disease, heart attack, Stroke, Blood clots, Peripheral neuropathy, Anemia, Miscarriages, Congenital birth defects, and more


Mutation 1298 – Depression, Fibromyalgia, Chronic Fatigue Syndrome, Migraines, IBS (Irritable Bowel Syndrome), Memory loss with Alzheimer's and Dementia, even other psychiatric problems can be tied to this defect (OCD, Bipolar, Schizophrenia), and more

I have one copy of each mutation.  This explains a lot of my body pain,  anxiety, the blood clot, anemia, sleep issues etc.  Both of my girls have the same and my husband has 1 copy of 677.  There is also a connection with MTHFR and hashimotos thyroid.

My nurse practitioner changed my iron supplement to an iron supplement that actually has the mythl folate in it which I didn't know.  I started taking it and within 2 weeks my sleep was getting better.  (It's still not 100% perfect but it's so much better than it was).  At some point I decided to look at the ingredients and noticed it had the mythl folate in it.  That's when I realized how much of an affect it had on me.  My iron is still low normal but is starting to get better.  I did end up taking to much cause i was taking what was in my iron and extra supplement.  I do know 800 mcg is not enough, but i think 1800 mcg is to much.  I'm now trying to find the right dose for me that makes me feel great.

When I was first diagnosed I was just told to take b12, b6 and folate.  I was never told which form was best.  Maybe they didn't know in '07 but I think they did from reading I have done.  I have now started with the mythl form of folate and b12 and I must say there is a major difference in how i feel.  I hurt a little less, sleeping a little better, and I feel like my mind is clearer.  I just love feeling more ALIVE!!!.

MTHFR can also cause toxins to build up in your body and cause a slew of other issues.  This is something not to mess with.

If you have family members who have been tested positive for this gene, you should be tested.  If you have any of the symptoms or family members with the symptoms you should be tested for this gene.  Also you may still test normal and still have mythlation issues.  There could be still a lot more gene mutations they have not found yet.

I still have a lot more to learn and understand about this mutation, but i'm glad to finally get answers.  It's been a long road to get here.  I am also glad that something as simple as a supplement helps.