I’m a Compound, Hetero MTHFR! Now what?

Edit 23 May 17: Yeah I still haven’t edited this. And I need to. But Dr. Ben Lynch wrote this blog post recently and addressed my misconceptions about some mutations, clinical significance, and what it means to be +/+, +/-, and -/-  It’s a must read! Also at this point, the quick version of the update, I still recommend Genetic Genie because it’s free (make a donation) and a “quick start guide” of sorts. I still love Promethease because it’s fun… but don’t believe everything you read, you could really go down the rabbit hole, but as far as a truly informative interpretation —Stratagene is the way to go. FULL DISCLOSURE, I have not tried it yet. It’s on my to-do list for very soon, but I’ve talked to others who have used it and yes… It is the way to go. You can watch Dr Lynch’s YouTube videos about it –just search out his channel. So many good videos.

Edit 30 Mar 16: This needs to be updated. I will try to do that soon. 23andme is now $200
I am pretty sure that the test Ancestry does gives you the same raw data for $90 to $100 depending if it’s on sale, but let me look into it and I will update this post ASAP.

…it’s not what you think. Well, unless you are an autism parent, then I’m speaking your language.

mthfr

98% of those with autism have the “Compound Hetero” MTHFR mutation, and I’ve said 13,845 times that if I got the same number of vaccines as a baby that kids get today… I would be autistic. No doubt in my mind. The autism doesn’t fall far from the tree in this house.

MTHFR = Methylenetetrahydrofolate reductase.
Say that three times fast.

So what is it? I’ll get to that in a minute…
Writing this blog is a nightmare. I’ve been promising it for months. But where to start, what to say… how to write something short and sweet and palatable… *sigh*

Let me start by saying that I hope you realize “Know it all” is a joke. I don’t. I have a tiny grasp on this whole MTHFR and 23andme thing and I am going to share what I’ve learned, and where I get my info and what I read. I’m going to answer the questions that I answer several times a week when asked. Now, it will all be in one place so that all I have to do is share a link!  If I share some wrong info, speak up and I’ll edit it. And it goes without saying (yet here we are…), learn from your peers, but always double check, read and learn for yourself. So if I tell you something is true, read it for yourself and see if you agree with me, or disagree.  /disclaimer.

There are more and more websites and blog posts coming out about what MTHFR is, so I am not really going to get into that too much.  I am going to tell you what to do with your results after you get them back from 23andme.com, but there are a few things I do want to tell you in addition… so bear with me.

Know your MTHFR status before playing the supplement guessing game.
Back in the day –and even still now, we played pioneer! Bernie Rimland was onto to it when he realized that some kids got better on things like DMG and B6. Dr. Neubrander was studying MB12 shots as some kids were getting better with those, some kids were losing their diagnosis. Those first DAN docs realized that there was some metabolic disorder here at play in autism. The evidence was in the messed up labs we saw, and the improvements with diet and supplements.

However, not every kid was getting better. Some, like my son, were labeled “non-responders”; Gavin actually got worse on most supplements. I spent a bazillion dollars on $400/hr doctors and their supplements and shots. Had I known my son’s MTHFR mutations back then, it would have been money saved. Those MB12 shots did him no good, and maybe a little bit of harm. His mutations mean that he can only take Hydroxy B12.

Four years ago, before I knew about MTHFR, my neuro noticed my B12 was really low and signed me up for shots. The B12 shots most people get are the cheapest form, cyanocobalamin –this is also the worst form for us MTHFR’s. We have to use our much needed hydroxy B12 to break it down and deal with the cyanide molecule –I read that somewhere. It’s useless for us and can make things worse. I posted this to Facebook one day:

Yep. My mutations mean that I need hydroxy B12 or adenosine B12.
Yep. My mutations mean that I need hydroxy B12 or adenosine B12. And Yep. That should be lying in bed, not laying…

Here was another FB status I posted back then: “thinks the doctor is accidentally giving her sedatives instead of b12 shots… I can’t function… I slept in, took a 3 hour nap and now I am ready for bed!”

I was doing post-bacc work in Anthropology and Geology back then and had to drop out because I could not get out of bed and go to class. MTHFR derailed my life. It’s that serious. I’m suddenly sad thinking about it. I no longer have student aid to finish and owe my college over 2 large so they hold my transcripts. MTHFR!

When you learn what mutations you have, you can start to learn what supplements to avoid. I learned that Gavin is an over-methylator. It was the village that gave me that heads up. I figured out, through trial and error, that it was the melatonin that was making him go all hulk in school the following day. The village (Facebook) said to me, “Sounds like he over-methylates!” … WHAT?

Any supplement that increases methyl groups, needs to be used sparingly or avoided for my son. –quick note: niacin sucks up methyl groups… so if MY kid is in a rage from over methylating… I can give HIM a niacin.

Playing pioneer is a science and an art. Go with your gut. For too long I ignored my gut. I could see that supplements agitated him, but people would say to me, “That means it’s working and he needs it!! Plow through!” …No. Know your MTHFR status, it really helps to end the guessing game.

2. How to find your mutations. 23andme.
Yes, you can probably convince your health insurance to test for the common MTHFR genes SNPs. BUT…. it’s one tiny slice of the big picture.  You need to know what is going on in the cycles leading up to the methylation cycle and the ones that follow.
You really need to drop the $99 on the 23andme DNA test.  Each additional test is $79, and with shipping it averages $100 a test.

But Jane! 23andme got in trouble with the FDA for giving out health reports and they don’t do that anymore! Yes!! You are correct, but there are third party websites that you can run your raw data thru to get all the juicy info! 23andme gives you great ancestry info (I love finding new cousins!) AND it gives you a raw data file of your DNA to upload to those third party sites. If you order through this link, I get a $10 amazon gift card for referring you. Free Amazon money keeps me in supplements and Kidz Bop albums. Thanks in advance!

What to do with that raw data.

1. Genetic Genie.
It’s free, but they do ask for a donation. Give them some money.
This is a bit of a *lite* report, but a great place to start. You download your raw genetic data from 23andme after it’s made available to you, and then upload it to this site. Genetic Genie will spit you out a basic report to let you know your MTHFR, CBS, COMT, VDR and a few other basics. Along with some general info on what the mutations may mean. There is also a detox pathway report, and I admit… I haven’t even begun to learn what all that means, yet.

SIDE BAR: Just because you have a mutation, doesn’t mean it’s causing you a problem… but it could and it might be. I will link to some places later where you can read and learn more. You should have lab work done to help you determine *if* you have a problem caused by these gene mutations. Sometimes mutations cancel each other out in a weird way, so you need to follow up with labs. For example… for all our mutations… my kids folate levels are fine. Who knows why. Seriously… who knows why?? You’d think their folate would be low, we don’t supplement!

2. Promethease.
$5 per report. This one is close to the old 23andme health reports. You kinda have to search for things and know what you are looking for. So… it’s a good one to do to satisfy your curiosity. They look at all your tested genes and tell you what they *may* mean. For example… my youngest is likely to die before 10 a.m. and I am a night time croaker. lol. Whatever… I learned there that I am less likely to have a-fib and that I am a likely sprinter with fast twitch muscles, and have blue eyes… Here’s the thing… I am a long distance runner, never could sprint, and I have brown eyes. So… genes are not your destiny and this is NEW. Really… think about how NEW this science is! We have a lot to learn.

I learned that my youngest shouldn’t have Motrin, he’s slow to metabolize it and it could cause GI trouble.

You can run this one for $5 and then you can look up your MTHFR et al. genes and have fun reading over everything else it tells you.

Screenshot, collapsed view
Screenshot, collapsed view

Some things listed under my “bad”? CAD! Autism! Male pattern baldness!! O.o (the rumors are NOT TRUE!)

prombad

AUTISM??? You mean we can test for that? *eye roll*
Yep, for $99. If you have these MTHFR (from here on out when I say MTHFR, assume I mean the WHOLE big picture… MTHFR, CBS, COMT, NOS, VDR, BHMT, MTR, GAD, MAO, etc.) mutations you need to skip the vaccines!

I was looking over my “bad” list and found this… why is this bad? “This genotype may provide resistance to depression when subjected to repeated defeat” ??
*sings* I get knocked down… but I get up again… you’re never gonna keep me down… (it’s in your head now, isn’t it? You’re welcome!)

3. MTHFR Support, Sterling’s App
$30 each. Pricey, yeah, especially when you’re looking at your whole family… but this is a GOOD one. They just added a bunch of new SNPs, too. I bought the new version of the report recently and they’ve added a ton, plus it comes with free updates from here on out. Worth it, as this is an evolving science.

This one will give you hours and hours… and hours… and hours of future research. It’s a 42 page PDF file full of info.
Here is a glimpse… look at my GAD (glutamate) mutations… is it any wonder that MSG sends me into a twitchy seizure wonderland for a couple days after eating it? By the way, you can Google that stuff for more info… for example: GAD1 C10180T that can take you to more info. The old Sterling’s App had direct links in it… not sure why those are missing in the new one. I will email and ask them.
gad1

Red = homozygous mutations.
Yellow = heterozygous mutations.
Green = no mutation, nothing to see here, please return to your homes….

4. Livewello App
I have no opinion on this, because I’ve not tried it. I really ought to.
If you have used it, write up your thoughts and I will add them here.
I believe it’s $20 per person and it looks promising.

5. Dr. Amy’s Methylation Pathway Analysis (MPA)
Free. But…
Yes, you should do it, there is a lot of good info there and pretty picture of cellular metabolism cycles! Who doesn’t enjoy that shiz? But if you are new to this, it’s going to be wicked confusing. You will want to read Yasko’s books first. And get to know Dr. Ben’s stuff first, too (links to come). Also, here is what I noticed… it doesn’t cross-check with contraindicated stuff… so… it might recommend one supplement that it *thinks* you need based on one mutation, but then you know it’s something you should avoid because of a another mutation.
Also, Dr Amy has a ton of great supplements in her store for you to try. If you are like me… poor and doing this on your own… you will CRY. Out of curiosities sake, I filled my shopping cart one day with JUST the supplements ONE of my sons would need to get started with her “groundwork” recommended supplements… and I quit when the the total hit $1,000.
–So… yeah.

Those are the ones I am familiar with. If you know of more, share in the comments.

Let’s recap.
1. Order your 23andme tests. Your kids have these mutations, I’d bet on it… and so do you. Moms. Dads. We need to live forever. We NEED to know. Sometimes I ponder all those friends and family members we’ve known to have dropped dead of a heart attack in their 30s or 40s or 50s and we all sat around saying, “WHY?? He/She was so young!” I wonder…
Funny, I did a quick Google and came across this… no mention of MTHFR, but that is exactly what’s going on here. Homocysteine levels, B vitamins, folate… MTHFR, baby!

2. Run the raw data thru an app to find out your MTHFR status.

3. Get educated.

Onto Part 2. The above, Part 1… that is for you people with the idea in your head already that you need to do the test, or maybe you already have and don’t know what to do with your results. Maybe, however, some of you have no MTHFR’ing idea what I am talking about.

Part 2. What is MTHFR/Where to go to learn more.
I am not going to reinvent the wheel, and I am NO authority here.
So let me retrace my steps for you with lots of links, OK?
Quick summary (aka How I explained it to my 10 year old): The methylation cycle produces methyl groups that are needed for many processes in the body. They are wicked important. Take my word for it 😉 All kinds of cool shiz is going on in there, like the break down of B vitamins and stuff. Got it?? If it’s broken… you’re broken. Your cells are not getting the nutrients that they need to work right and it’s all downhill from there.

Dr. Amy’s version leaves out words like “stuff” and “shiz”.

I came across this blog recently. She’s good… why am I even writing this part… just go read hers 🙂 Be sure to watch the videos she links to in her post.

So first I stumbled across Dr. Ben Lynch

I heard of MTHFR and “over-methylating” a couple years before I took the plunge. It just seemed like *ONE MORE THING* to give me a headache, to overwhelm me. But one day I clicked on a recording of an interview done by Dr. Ben Lynch that was an overview on MTHFR and the light bulb went off. I had already heard the rumblings that it’s likely in kids with autism (Specifically the compound hetero combo of 1298 and 677) –but in that interview he stated it was even more common in Southern Italians. Well… I have this lovely “Dysfunctional Family Tree” (that’s what I call it). It’s the Southern Italian side of my family… and it’s FULL of conditions associated with MTHFR mutations. Each generation a little worse (as toxin exposure increased).
I started to read Dr. Lynch’s website, putting the pieces together in my over-worked brain and knew, KNEW, that we had these mutations before I even saw the test results –and I was right.

Devour his website. His videos. All of it. Eat it… Drink it… sleep and breath every drop.  Here is his “Read This First” page.

You know, I found out that Gavin has spina bifida occulta. He has Chiari, scoliosis… These are neural tube issues. These are signs of MTHFR. The more you read –those light bulbs will start exploding over your head!

Ben has a little booklet too, a brief summary. He’s working on a bigger book. I can’t wait!!!
MTHFR Basics. It’s 99 cents, or free with Kindle Unlimited, or free in the Prime lending library.

NOTE: In that first interview I listened to, while MTHFR mutations were more common in Southern Italians, they had less symptoms… Diet? Diet! I say again, genes are not your destiny. Clean living, diet and detox can fix a lot of these MTHFRin’ problems!

Amy Yasko
God I love her… her brain. When she talks it’s this avalanche of amazing and I have to watch and re-watch and pause and take notes.  I am certain she dreams about cellular metabolism every time she catches some sleep. If she sleeps…
Her wait list was so long that she stopped taking on patients and just puts all the info on her websites for free in an effort to help as many kids as she can. Rock star.

NOTE: There are a couple mutations that Dr. Amy’s DNA test checks for that 23andme does NOT test for (SOUX and one of the BHMTs off the top of my head), but her test is $500. Yeah. So if you have the $500, go for it. Someday I *might* do that test for Gavin as I try to untangle the mess that is his genome.

She has a book, too. If you are new to this, it’s a good read. I didn’t learn much new, so if you are a pro… I guess you can skip it, but for $9, whatever.  Feel Good Nutrigenomics. The more detailed stuff is on her website. But, I highly recommend this book for noobs!

Here is one of her links, it links you to all her pages:
HolisticHealth.com

But her original book and workbook… it’s on the Dr Amy site.
Direct link to the PDF of the book here: Autism: Pathways to Recovery
Web version here.
Click that resource tab, click that “approach” tab. So much good information there. Videos, presentations, online discussion group…

Watch these videos.
Her video about the lithium connection is what got me to have my son’s levels tested and there was nothing there, they ran the test twice to make sure. Kid was seriously low on lithium and lithium is pretty damn important. Also, one of the new things I learned from her new book, was that you need to have lithium levels up before supplementing with B12. So I pulled back on his B12 until his I run labs again to check his lithium levels.

It’s all pretty damn confusing. It really is… At times I slam the books shut and walk away.
I wish I could hold your hand and walk you through it, but I’m still learning as I go. I could sit here and list the things I remember, but my memory is foggy and I don’t want to give you bad info. You really need to start doing the reading for yourself and let your own light bulbs go off. Read/Watch/Listen a little bit everyday… or a lot.

I dream of a day when someone creates an app where we upload our data and it spits out every last supplement with a diet tailored perfectly for each of us. Maybe 5 years from now… But for now… be a pioneer!

Search out groups on Facebook, there are several. I can’t really recommend because while I am member of a few, I don’t follow them too closely; I can’t tell you the best ones. Ask your friends.
Once you know your specific mutations you can even search for groups specific to that. My youngest has a homozygous mutation on 677, I found a group for that! (This means he only methylates at 30%) I guess you can start here though, this group has over 11K members.
Follow Dr Ben and Yasko on Facebook, too.

Some youtube videos:



I feel like this is more than enough today. In the future I will post smaller blogs about specific issue.

In closing…

You’re Welcome!

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14 thoughts on “I’m a Compound, Hetero MTHFR! Now what?”

  1. Awesome! Glad to know I’m not the only one totally confused, yet I KNOW this is the way of the future. I am homozygous for MTHFR A1298C, and have a bunch of other bad ones, so I would totally be messed up given today’s schedule. I’m fighting for the health of my future grandchildren.
    As you make sense of all of this, please continue to share with us! THANKS!

    Like

  2. Also, is anyone aware of any good info to share with pregnant moms about prenatal supplementation and the risks of fortified formulas? I have shared with a few moms-to-be and they look at me like I’m nuts, especially when their doctor has no clue (which must mean I’m nuts, right?).

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  3. do Livewello. It is awesome. I am relatively new to the metabolic issue that sounds sinister …I was diagnosed 1 year ago. $20 and you can check for anything that you can pull Rs numbers on, as long as the numbers are on the 23andme chip. You can even write your own gene templates once you get up the learning curve.

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  4. Thank you so much for sharing. We had genetic testing done a year ago but ended up with big fat zeroes and no further clues. My instinct still tells me there is something to this whole MTHFR deal. Although, I can’t fully understand it all just yet. My little guy has trouble with Tylenol/Motrin and I discovered this 2 years ago and have since switched to homeopathic means that help him heal without all that trauma. He has had serious gut issues that worsened with his 1st yr vaccinations. (Severely allergic to milk proteins and I didnt realize that milk proteins are present in many recommended vaccines until years after we stopped consenting to vaccination for fear of more adverse reactions. The doctor was unaware and also unaware that his GI problems were a contraindication of vaccination at that time. I blindly trusted my doc to provide their expert advice to help my son through this time of serious illness. I didn’t know how little they knew then.) He was hospitalized several times within days of vaccines with intestinal bleeding, C. Diff infections, urinary tract infections, etc. We stopped after meeting with a specialist and hearing their personal account of their own son’s terrible reaction to vaccines. He recommended that we hold off while we learn more about what may be happening. I’m so grateful for the hour and a half he so generously spent talking to me on the phone that first time I called. Later we discovered a poorly functioning metabolic system, high toxins, and severe sensitivity to gluten with yeast overgrowth. All of which are resolved today through diet and toxin avoidance. Flash forward to now and we still have a reg ped, but debate vaccination every visit with threats to have us expelled due to noncompliance. Despite the history of adverse reactions, known severe allergy to milk proteins, sensitivity to yeast, and weakened immune system the doc still pushes because he believes my son’s gut is now healthy enough. I have spreadsheets that document him meeting & exceeding milestones, along with timing of GI episodes, infections, and hospitalizations. These records illustrate a timeline of serious reactions and the decline of my child’s health in that first 2 years. We had an abrupt worsening after MMR. He lost language, forgot how to stand when sitting, and was very ill for months. We see a homeopathic doc as well and she has helped my son in leaps and bounds! He has come so far and is now mainstreaming 1st grade with a pt time aide, but my gut tells me I need to look into this more…maybe I’ll find some clues through this that the standard genetic panel can’t provide. Has anyone else also received no indication from genetic testing but revealed helpful info from the 23andme testing? I’m curious if I may find more useful info than what the geneticist was willing to test my son for.

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    1. Genetic testing down routinely in the case of our kids has changed a lot in the last several years, my son had his done 15 years ago and it came back “normal” yet he still have MTHFR. I still don’t think MTHFR is part of the typical screening they do when your kid gets an autism dx. You could call and ask if it was done.

      Like

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