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!