Signs you've taken too much L-methylfolate...

When I started this out, I wanted fast facts on how much I had to take.  You know, like what dose should I be taking.  I have one mutated gene and I'm 150 pounds, so I should take ____ mg, while my husband with two mutations and more weight should take ____ mg.  Yah, that doesn't happen.  All the websites say a doctor should monitor it at higher doses, but try finding a doctor (aside from a psychiatrist who uses it to treat mental illness).

There are some indications when you are taking too much l-mthylfolate.  They are (as taken from this site):

• Irritability
• Anxiety
• Nausea
• Headaches
• Insomnia

Dr. Lynch advises to back off for a day or a week and then start back up slowly.

So far, mthfr.net is one of biggest resources I have found, along with several smaller resources.  Does anyone know of any other good sites that offer insightful (not crap-shoot) research and information about this mutation?

What can I do to help myself?

So the first two things I thought of when I found out I had one mutation, but more importantly that A Total MTHFR (that would be my husband... I like the catchy name!) was carrying the worst mutation combination was 1) What about my son? and 2) Can we fix this?????

Well, yes and no, we can't fix it because it's just the way our genes are.  But we CAN provide our bodies exactly what it needs to bypass this whole converting-folic-acid fiasco.  Both my husband and I take L-methylfolate, 1mg (although I need to find out if this is actually the "L" kind.  After watching the video below, I need to do a double take).  I don't know about dosages, and apparently it's pretty tricky.  I certainly don't want to hurt my husband, so we are sticking at 1mg until a doctor tells us otherwise.  There is a prescription dose of L-Methylfolate available, called Deplin, with 7mg or 15mg dosages, so I figure 1 mg certainly won't hurt my husband, and it probably won't hurt me.  So we do that.  We also got rid of any pesticides, preservatives, and unfiltered water in our home.  We eat organic (which oddly, only costs us about an extra $15 dollars a week), and only eat grass fed beef or free range chicken.  I bought a Berkey, a top-notch water filter designed to take out pretty much anything that could build up in your system while leaving behind the essential minerals we can get from water.

I called my pediatrician immediately to get my son genotyped.  It went something like this (don't laugh...).  Keep in mind I just found out my husband was a double carrier and I was a *bit* in a panic:

Me: Hi.  I'm calling because I just found out my husband and I are carriers of a genetic mutation.  I've discovered we're mutants, and I need to know if my son is one.
Nurse: I'm sorry.  Can you explain this a bit more to me?
Me: We ARE CARRYING A GENETIC MUTATION, AND I NEED MY SON GENOTYPED RIGHT NOW!
Nurse: I'll need to know some more information so that I can get the doctor to sign for your test.  Can you explain what mutation it is?
Me: I'm sorry.  I just got the news, so I'm a bit panicked.  You may not have been able to tell.  I'm looking for an MTHFR test.
Nurse: I could tell.  A what test? (Keep in mind I did NOT sound it out like it was spelled, so this was my first clue she had NEVER heard of this test).
Me: I need an MTHFR test.  It's a genotyping test.  I should probably also have his homocysteine levels checked.
Nurse: Did the genetic counselor tell you to get that checked, too?
Me: Um, no.  But he needs it checked.
Nurse: Ok.  I write down "MTHFR genotyping test"?
Me: I guess
Nurse: And how do I code the homocysteine levels?  What do I write on the slip for that?

This was my first glimpse into the idea that I was going to be my families main advocate, because clearly no other family doctor knew what was going on.  When my husband had his test done, he had a similar response.  He had to tell the nurse what to write on the slip.  Gah!

Anyway, I did some searching, and the only supplement for kids I could find was from Thorne Research, and he can't take it until he's four anyway (he'll be turning three in October 2013).  So we've put off testing him until next year.

On a side note, if you breastfeed, there is some discussion that by taking the L-methylfolate yourself you pass it on to your children who would have the genetic disorder as well.  That was very interesting to me.  I did not breastfeed my son because at the time we thought my only issue was PCOS, and I didn't want to pass my hormonal imbalance on to him and predispose him to insulin issues.  In light of this information, I'd breastfeed another child if I had one.  The article is here if you want to read it.  He makes a pretty far leap in saying that putting folic acid in all our foods is the cause of autism since it blocks further L-methlyfolate from getting into your system, and if 60% has this mutation, well, there you go.  Hmmm... maybe it contributes to it, but I think there might be multiple causes (just ask any friends you have that might be anti-vaxing, eh?).  So read with a discerning eye.

This is a VERY thorough video from Dr. Lynch.  He runs a website called MTHFR.net.  I have not yet verified his credentials, but much of what he says correlates with what I have read elsewhere, so I'm going with it until I prove otherwise.  It's long, but gives a GREAT idea of what you're dealing with and what you can do to help yourself.  Until tomorrow!

The Awareness Ribbon... in case you're looking for a new avi or pic for Facebook...

Illness, Syndromes, and Diseases associated with MTHFR

I thought I might start here.  So many fertility doctors (in fact, all kinds of doctors) think this is simply a fertility problem.  Had recurrent loss?  It's the MTHFR gene - take some folic acid and call it a day.  Ummm... wrong!  MTHFR mutations affect everything we do, the day to day, and the distant far off future!  Visit here to see a list of 63 different illness associated with these mutations, from autism to blood clotting, schizophrenia, stroke, and fibromyalsia.  How does it all work?  Like this!'

We are made from a male and a female.  We get 23 chromosomes from the male, and 23 from the female, so we get one MTHFR from the mom and one from the dad.  If your mom or dad has a mutation, they may pass it on to you.  Some of us get only one mutation, some of us get two.  One is called a heterzygous mutation.  Two mutations are called a homozygous mutation.  Additionally, there are two types of mutations, known only by their number names: 677 and 1298.  So you could get one good gene and one 677.  Or one 1298 and one good gene.  The combinations appear below:

• Two good genes
• Heterozygous 677: One 677 and one good one
• Homozygous 677: Two 677s
• Heterzygous 1298: One 1298 and one good one
• Homozygous 1298: Two 1298s
• Compound Heterzygous: One 677 and one 1298

Those with the 677 mutation are more predisposed to vascular issues, such as clotting, stroke, and heart attack.  If you have two 677 mutations, you have a higher risk than those carrying only one mutation.  Those with the 1298 mutation have more issues filtering toxins from their bodies, so they should focus on eating foods that limit preservatives or pesticides.  Those with one of each mutation are at risk for both.  Interestingly, I read here that 98% of all people with autism have one of each type of mutation.

Interestingly enough, we really had to fight to get my husband tested after reading this page.  Doctors didn't seem to think it was a big deal - after all, I was the one carrying the child, right?  Not so much.  If you looked at that list of illnesses above, I was concerned by what mutations my future children would have.  This is the image on that page:

This seemed to make sense as we have already, at this point, lost three babies during pregnancy since we had my son.  So we had him tested.  He caries the compound heterozygous mutation, or one of each type.  Not only is he at an increased risk of blood issues, he can't filter toxins out of his system, either (which would make sense, as his liver numbers have always been wacky after taking prescription meds).  So we are on the right hand side of the chart.  We have a 25% chance that a child could have one 677 mutation, a 25% chance of one 1298 mutation, a 25% chance of two 1298 mutations, or a 25% chance of one 677 and one 1298.  None of them look particularly happy.  We have an appointment with Dr. Kwak Kim (a reproductive immunologist at Rosalind Frankin University) to discuss what, if anything, this means if we were to want to have more children.

I debated on having my son genotyped (he will be three in October of 2013).  We decided to wait a year.  I will go into that on my next post (since he is asking me for some apples, and I can't say no to choosing a healthy snack!)

"Heterozygoat" MTHFR

I am a heterzygous 1298 MTHFR.  This means I have one good MTHFR 1298 gene and one mutated one.  While researching, I found this.  The science teacher in me had to share!!!

Today begins it...

"It's no big deal, take more folic acid," the doctor said.  "I don't even know why they listed this in your report.  Take 1000 mg of it."

It is really frustrating when you go to doctors, specialists even, to get answers and you realize they know less about a topic than you do.  What is the point?  What did I just spend my money on?

I found out in April 2010 I carried one copy of the MTHFR genetic mutation at the 1298 spot.  I came home and looked it up, and the first thing I learned was that you should not take folic acid, since it can block the pathways for proper absorption of L-methylfolate.

Before I get too far ahead of myself, I should explain what MTHFR is.  When the gene is mutated, the person has a difficult time converting folic acid into the form that the body needs.  Typically, we take folic acid (it's in our flour, cereals, rice, bread, and vitamins), and convert it to something called L-methylfolate, which our body uses.  People with the MTHFR genetic mutation cannot do this conversion properly.  There are two different results, based on where your mutation lies on the DNA line.  A mutation at point 1298 will result in a decreased ability to filter toxins from your body.  A mutation at point 677 will result in vascular anomolies, such as clotting or an increased risk of stroke or heart attack.  People with two copies of a mutation will have a more difficult time than people with just one copy of the mutation.  Those with the most difficult time will have one copy of each mutation (this is what my husband has).

If you are looking for a great MTHFR overview, watch these videos.  I'll be back with my next piece of research - how the genes are passed down, what it means for our kids, and how to help!

Part 1 of MTHFR video


Part 2 of MTHFR video


Part 3 of MTHFR video


Part 4 of MTHFR video