I Am Not Superman, I Have A Gene Mutation

by holli on September 23, 2013

My Mommy muscles!

My Mommy muscles!

The power of Moms is amazing. You can read dozens of books, but some of the most important advice I have ever gotten was from a Mom during a playdate. And, I’m not just talking about parenting. I’m talking about life, and my own personal health.

Several months ago, I was talking to a Mom-friend I know as an acquaintance. We don’t see each other a lot, but she shared something very personal with me. She had been on bed rest for a year, and was finally diagnosed with a gene mutation called MTHFR. The MTHFR gene mutation causes the body to not produce an enzyme which helps it absorb B-Vitamins, Folic Acid and Iron as well as others. Without this enzyme, the body cannot adequately process Iron or Folic Acid. So, taking it won’t help people with MTHFR. You have to get it processed in a special way.

Well, guess what? The list of illnesses the MTHFR gene mutation causes was like reading my family tree: Thyroid Disorder, fibromyalgia, miscarriage, addiction, depression and cancer jumped out at me. Near the bottom was Endometriosis, which I was finally diagnosed with last February. And, I’ve tried many alternative methods for curing it (even though the medical community says there is no cure). While I have found improvement with my symptoms, I feel like I’ve hit a wall that my body can’t get beyond. So, learning about the MTHFR left me hopeful.

My Naturopath was hesitant to test me for it, because it is a $400 test, and Insurance won’t cover it unless you have dire symptoms like fibromyalgia and dementia and thyroid disorder or something crazy like that triple combo. So, after trying various things religiously for months, I finally got the test. While I had to wait for the results, I was nervous. On the one hand, if I tested positive, then I would know what is broken in my body and have the power of knowledge. On the other hand, it would mean that I am really broken. As I’ve shared before, having Endometriosis makes me feel like my womanhood is broken and it’s not fun.

Well, my test came back positive! On the bright side, I have only one of the over 50 markers for MTHFR (aka C677T). And, since I was getting blood taken, I also had a vitamin absorption test done: my results showed a 30% rate of absorption of B-Vitamins, magnesium and calcium! No wonder I have also be suffering muscle spasms (despite taking magnesium supplements). So, not only did the MTHFR test say I have a gene mutation, but the vitamin absorption one showed it more clearly where the problems areas are.

Guess what? Lack of certain B-vitamin enzymes affect how your body is able to absorb magnesium and calcium. I have so much more to learn about this whole thing. But, I am happy to report that after taking a methylated B vitamin complex and Zinc supplement for 3 weeks, I am feeling much better. I have energy to get through the whole day.

A friend of mine is visiting right now, and after watching me go through my routine of daily life for a few days said, “You’re like Superman.” No, I told her, I am not. I just finally have energy to get through the day without 5 cups of coffee (which I weaned myself off of, painfully). So, now you know. And, knowledge is power!

Here’s the best description I’ve found of the MTHFR mutation:

MTHFR gene mutation… What’s the big deal about Methylation?

Most of my research has been through the MTHFR.net site. It is written from a doctor for what seems like medical professionals. So, it’s a little challenging to read. But, here are my favorite pages:

MTHFR Research

Endometriosis and MTHFR – Guess which marker is linked, yes the one I have: C677T

I have read some folks get their MTHFR checked through 23andme.com for only $99, but I don’t know from personal experience.

That’s all I have to share for now! I’ll update on my personal health in a few months. For now, I hope this helps someone like me who is struggling. And, if you have a MTHFR mutation, please share your story.

XO,

Holli

UPDATE: In the 3 years since I share this post with the world, the costs for testing and insurance coverage has changed. Some insurance companies now cover it like other blood work. Thanks to a comment from Victoria, for sharing!

 

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{ 23 comments… read them below or add one }

Sybil September 23, 2013 at 10:34 am

So interesting. I am glad you got some answers! A few months ago I went to see an ND locally to see if he had any thoughts about if something was going on in my body to make me so susceptible to all of my running injuries (ie, was it hormonal? vitamin deficiencies?). The only suggestion he had (and this was pretty far-reaching, I think) was I might have a disorder that caused me to not be able to use the folic acid in my diet, and, long story short it was causing me to not recover from stress like I should be. So, instead of testing me, have sent me home with a bottle of 5-MTHF and said “take this, if you have the deficiency, this will help you feel better. If you don’t, it won’t affect you at all”. I took it for a while, nothing changed, so I stopped.

Anyways, I had never heard of this disorder before. Apparently it’s not terrible uncommon, according to my ND. Are you on that same supplement? Hope you feel better soon!

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holli September 23, 2013 at 10:44 am

Wow, that is frustrating, but a low cost way to test something!

I’m taking a Methylated B-Vitamin complex called Methylplex, and Zinc. It took me about 2.5 weeks to notice a difference. My Naturopath is learning alongside me, basically. I was the first or second patient in that office to get tested. But, I’ve learned recently that 3 people I know around West Seattle have it too. Sounds like it is typically found among Native Americans, but I know an English gal who has it too. Makes me think something in our environment triggered it maybe 2 generations ago and some ethnic groups are more susceptible than others. And, I think we’ll learn more about how our genes play a role in health with the new scientific study of Epigenetics (How our genes are expressed).

Anyway, I hope you find some answers! I think if you have MTHFR, there are 50 gene markers for it, with 4 being common. If you have a variation of them, it is harder to treat. Thankfully, I have just one:)

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JCJohnsong September 14, 2015 at 8:03 am

How long did he have you take 5-MTHF to do the ‘test’ AND did he start with super low amounts and work up after it didn’t seem to help at the first dose he gave you … and try again this way?

Also… I would like to mention that …
Many people with MTHFR need to take BOTH 5-MTHF and a methyl form of B-12 to see a real difference. Plus if you are getting the non methyl form of folate in your food (ie addesed to processed foods) or the supplements you take that can be causing some negative symptoms (that merely taking 5-MTHF will not correct thereby not showing results that indicate taking the 5-MTHF is helping you) … often with MTHFR sufferers the other (NONmethyl) form of folate has to be REMOVED from your daily intake also.

And there are also a group of MTHFR people who have a problem with 5-MTHF and have to slowly increase their supplemental amount or symptoms will still show (from taking too much 5-MTHF … even though at a lower level it would have HELPED them). This is a smaller sub-group within the MTHFR sufferers where the “cure” causes some sort of sensitivity so just giving the amount that would normally work for the typical MTHFR sufferer does not work in these cases. This sub group have to slowly increase the amount of 5-MTHF they take till they find their IDEAL amount (which is often done by going slightly beyond that amount and then reducing to slightly below that … for a more ideal level for that individual). In other words they will be getting better and then hit an amount where their symptoms start COMING BACK. Then they stop all together for a few days and start again at a lower amount and slowly increase but STOP increasing this time before they get to the amount where their symptoms began to return. IF the amount you were taking is OVER your ideal amount (assuming you are one of the people in this sub-group) then you would have never seen an improvement in symptoms because you started TOO HIGH for your case.

So what I’m trying to say is …
just because taking 5-MTHF didn’t help you doesn’t mean you do not have an MTHFR problem … it just means you are not in the typical easier to understand and treat group of MTHFR sufferers.

You might want to try what your doctor suggested again (if you don’t want to pay for the test and your insurance will not pay for it) … BUT … this time …
start SLOW with a tinier dose of 5-MTHF a day and slowly increase the dosage …
and this time also take some methyl form of B-12 along with it every day

See if you notice any improvement when you do the ‘test’ this way. ALSO remember to eliminate the OTHER form of FOLATE while doing this for a better way to test at no cost.

I guess what I’m trying to say is the NO COST — NO LAB TEST version is great when it helps and you find out you have MTHFR without having had to pay for a test … but finding out you do “NOT” have MTHFR this way is not reliable (with the many MTHFR people that fall outside the ‘typical MTHFR’ sufferers group).

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Cassie September 23, 2013 at 11:47 am

Interesting post, Holli!

I have 23andme, so I looked up this marker. This is what they say about it:
https://docs.google.com/file/d/0BxyhcrNE0d6XUzBlY09EbzYyakE/edit?usp=drivesdk

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holli September 23, 2013 at 12:13 pm

Thanks, Cassie!

For the 23andme test, is it just saliva or do they need blood too? I ask, because I want to test the kids for MTHFR but dread getting their blood drawn.

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Cassie September 23, 2013 at 4:32 pm

It’s just saliva, super quick and painless… actually, the kids would probably find it pretty fun.

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Naomi April 24, 2014 at 9:06 am

Hi Holli,
I was finally diagnosed with endo in summer 2009, after suffering it since 1987 (age 15). I was put on 10 different BC pills over the years to address my very severe period pains, but it got worse and worse. I became vegetarian at 21, but never supplemented iron or B12, except as the occasional B complex supplement (with the standard, not active, forms), which of course did nothing. 2 years ago I discovered my little boy had an undiagnosed tongue tie and researching led me to midline defects which led in turn to MTHFR. Just like you, when reading the list of issues associated with MTHFR, it was like reading a family health history, so I decided to get tested with 23andme, as recommended by Dr. Ben Lynch of mthfr.net, and yep, I’m heterozygous (one copy) of the C677T mutation. I had already started making the diet and lifestyle changes in anticipation 6 months prior as I really felt that I had it, but once I got the results I was able to tweak my nutritional and supplemental intake to better support my body – and got pregnant that same month! My hubby and I had been trying to conceive for 2 years without even a sniff of a baby, and the first cycle I got the dose of methylfolate, methyl B12 and active B6 (P5P) right, BAM! In addition, it has made a huge difference to the endo, and to my energy level. The test also showed me that I have even more issues with metabolizing B12 than folate, and that I have hemochromatosis, as well as being a carrier for pseudocholinesterase deficiency, a silent mutation that can be fatal when having an operation as it makes you a poor metabolizer of the paralytic they use to put you under. Because I’m only a carrier, I don’t suffer from it, but we will be getting my husband and son tested to make sure that neither of them are carriers and to see if my son has hemochromatosis (more serious for men than women). In short, I’d say there’s no downside to getting a genetic test done because knowledge is power. Understand the limits of the testing, that it’s only showing you what’s actually happening in your body already and that you need to do the research yourself to understand what’s going on. Most doctors just don’t understand – their training predates the advent of genetic profiling for health and they have no background in it. I feel so empowered now and I am taking back my health, my body and my life after years of just accepting feeling crappier and crappier. Knowledge is power!

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holli April 24, 2014 at 9:40 am

Hi Naomi,

Thank you for sharing your story. It’s true, knowledge is power! And, as I’ve learned the hard way, it’s vital to pay attention to how you feel, and ask questions. Keep asking until you find a way to feel better – I wish I could tell everyone this.

I love what you wrote:
“Understand the limits of the testing, that it’s only showing you what’s actually happening in your body already and that you need to do the research yourself to understand what’s going on.”

My son’s health has just sent me through another roller-coaster learning curve. He also has the C677T mutation, sensory processing disorder, and is in the process of getting mercury and lead out of his body (just got results that the lead is now gone). It appears that once his body got the proper B-vitamins and fats it was able to eliminate the lead, but needs a little more support to get the mercury out. I’ve got a lot to share on it and our environmental pollution that an other blog post is in order:)

Anyway, I appreciate your story and applaud you for empowering yourself!
Holli

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Naomi June 18, 2014 at 9:17 am

Hi Holli,
I am heterozygous (one copy out of a possible two) for C677T too and I also have endometriosis, have had it since menarche at 15. I’ve known for years that I had issues with B vitamins and my liver on top of the endo, but taking B-complex never seemed to help. I started looking into MTHFR when researching tongue ties (my son has one that was missed) and finding out that tongue tie belongs to a group of conditions known as midline defects and associated with MTHFR. Like you, when I read the related disorders caused by this mutation I could pretty much check off about 80% of the conditions from my own and my family’s medical history. I started treating my endo with a combination of nutritional approaches, acupuncture, exercise and Chinese herbs, as well as a few Western ones and like you, it did make a big difference but only to a point. My cycles stabilized but I was still ovulating quite late in the cycle and still had some (but less) pain with periods, even though they were shorter and lighter with a healthier flow. I finally got the 23andme test done in December and got my results back in January. The good thing about a more general genetic test (as opposed to only testing for MTHFR) is that MTHFR is only a part of a much bigger picture, but the downside is that you have all this raw data you don’t understand. Even most medical professionals don’t have a clue. Genetics is a new, fast-growing and very specialized field. So I ran the data through several reputable sites and got my reports back, which showed a number of other genetic mutations that directly impact methylation (the process in which MTHFR plays a crucial role and that governs a host of other processes) and in turn, endometriosis, as well as a whole lot more. Once I got the results, I did some more research, learned what I need to supplement with and the same menstrual cycle that I started taking the right supplements in the right doses, I got pregnant. My husband and I have been trying for 2 years with not even a sniff and I change my supplements and BAM! Sadly, on the recommendation of my family doctor who, like most medical professionals, knows next to nothing about MTHFR, I reduced all supplements to normal prenatal vitamin levels, and eliminated quite a few of them. Within days of doing that the embryo stopped developing and I miscarried some weeks later. I later learned that for women with MTHFR C677T, fertility doctors who are aware of and understand the mutation keep them on the same supplements i was already taking and at the same level, so next time (if there is a next time – I’m 42), I know what to do. As a result of all this, my mother and one of my sisters have both had the test done, and my mother’s results have already been a huge eye opener. Despite being a very healthy 69 – excellent BMI, good blood pressure, active, great diet – she was diagnosed with high cholesterol and high pancreatic amylase about 6 months ago, and can’t tolerate the statins commonly prescribed for the cholesterol. Well, now we know why, and the mutations most affecting her and causing those issues can be addressed with a tailored nutritional approach and the correct supplemental support. As you said, knowledge IS power. There haven’t really been any surprises in the results – most of what we found we already knew we have issues with. The genetic testing just confirmed it’s not in our heads, explained what the contributing factors were/are and have allowed us to discover how best to deal with them. It’s making a huge difference to my family. One of my other sisters wants to get tested, and my husband and I want to test him and our son. I feel like telling everyone they should get them done if they have any ongoing or worsening medical issues, but I recognize that this amount of information can scare and overwhelm a lot of people. I don’t understand it, but I realize some people would rather not know. Still, I say if you’re not one of that group, hells yes – get ‘er done!

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holli June 23, 2014 at 10:10 am

Hi Naomi,

Thank you for sharing your story! I am sorry it took me so long to respond – I had to take a break from blogging for a few weeks.

It’s very exciting to read about other’s experiences, because I think we can learn more from each other since the medical community hasn’t caught up yet. Genetics are so fascinating! I totally agree on wanting to tell everyone to get tested – and I hope that someday everyone can have it covered by insurance because as we’re finding out our genes can tell us much more than a confusing array of symptoms:)

Best,
Holli

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Brittany July 1, 2014 at 10:26 pm

I found out 3 years ago after 3 miscarriages that I have 1 bad copy of the C677t mutation. I wanted to see if anyone else has a severe sensitivity to alcohol or over the counter medications (like NyQuil). I seldom drink, however last week I had 2 mojitos and ice tea and woke up completely numb and foggy the next morning. It’s a week later and my body is still numb and I’m in a major fog. I finally met a doctor willing to help and he’s having me take magnesium to help (I’ve been taking Folic acid and b complex without any help). The last time this happened to me I was in a scary fog for 6 weeks. Has anyone experienced anything similar or know if magnesium really helps? I go in tomorrow for blood work

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holli July 1, 2014 at 10:54 pm

Hi Brittany,

Yes, I think Magnesium helps a lot – it helped me, but my body couldn’t absorb more than 30% of it since I wasn’t able to absorb B-Vitamins at more than 20%. Basically, this gene mutation causes our body to not produce an enzyme that helps us absorb B-Vitamins and Folic Acid is affected as well as many other important vitamins and minerals (like a set of dominos – if one or two are missing the chain is affected). I hope that makes sense!

B-vitamins and folic acid are super important for everything from your sleep to energy to ability to absorb magnesium and even Vitamin D, for example. So, if you’re taking them already, are they methylated? That’s what I learned makes the difference. They have to be methylated for the body to absorb them if you have the MTHFR mutation since the body can’t digest it otherwise.

I was suffering random muscle spasms while taking a high does of magnesium. When I finally started the methylated b-vitamins, I felt like the magnesium started working.

Good luck tomorrow, I hope you get some answers!
Holli

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holli July 1, 2014 at 10:55 pm

p.s. Those percentages are based on a secondary test I had done that looks at how much your blood can absorb a number of vitamins and minerals. It wasn’t covered by insurance but helped a lot.

ellie March 8, 2016 at 10:36 am

Naomi and Holli; i know this post is old; but what supplements were you taking; we have been trying for 1.5 years now and nothing. i have compound heterozygous for the mutations, C677T and A1298C so double the problem and none of my drs know anything about MTHFR. fertility dr said just take extra folic acid; but i feel like crap and still no help. i read about the active forms of folate and will start using them this week but not sure what else to take. do i need blood thinner like lovenox in order to get pregnant?

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holli March 10, 2016 at 12:22 pm

Hi Ellie,

I’m so sorry you have a Doctor that doesn’t understand MTHFR. I don’t know what has worked for others in your situation. I have to take a methylated form of Folic Acid and B-vitamins otherwise my body doesn’t absorb it from the standard pills or food. And, after a couple of years taking it, I have had to take a break as I was getting headaches caused by too much B-Vitamins. Seems odd, I know, but the reality is that with MTHFR, we have to keep an eye out for symptoms that come and go.

I was surprised by my body not needing the B-Vitamins for a while. I’ve had to adjust my dosage taken a few times. But, that’s also cool because it shows just how much change our bodies are capable of!

I’d suggest you find a doctor that deals with MTHFR stuff.

Good luck!

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kelly July 16, 2014 at 1:00 pm

This is so interesting. I just got tested (after two miscarriages) for a bunch of different things and the the doctor said that the MTHFR test came back showing that i am a carrier with one copy. I have been researching this, but it is so confusing. Reading your post helped me to understand it better. The dr is putting me on a high dose of folic acid and a baby aspirin/day, but after reading a lot about this, it seems like this isn’t really the right answer. I’m wondering if I should ask more questions or get a 2nd opinion from a more specialized doctor.
Anyway, thank you for the post!!!

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holli July 22, 2014 at 8:58 pm

Hi Kelly,

I’m sorry I didn’t reply sooner, your comment got flagged as spam! First, I just read your post about being diagnosed with MTHFR. Yes, it’s scary and crazy, and if I could, I would hug you. When I first found out I had a copy of it, I felt doomed. Then, I found myself empowered. It sucks that I HAVE to take special vitamins that cost more than the ones sold in regular vitamin stores, but at least the medical community has something to help!

Yes, I’d recommend getting a second opinion, and when searching for one, find a doctor who is familiar with MTHFR. From what I’ve learned, baby asprin is totally okay, but folic acid is not. With the MTHFR mutation (yes, even just one marker), the body doesn’t produce an enzyme for absorbing folic acid or b-vitamins in general. For me, my body absorbs like 20% since I too only have one marker. I think this is why I could go for so long without such painful symptoms. I think having 2 babies depleted what I did have, and finally led me to finding out what this MTHFR stuff is all about.

I’m no expert, but I can say that there is hope to a successful pregnancy:)

Hugs,
Holli

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Rebekah November 15, 2014 at 8:06 pm

I har mthfr c677t as well. I found out after being diagnosed with fibromyalgia and am on deplin and methylcobalamin (active b-12), magnesium glycinate, and b-100. I also have endometriosis and pcos. I’m feeling much better but still not 100% 🙁 I wonder if I ever will feel like a normal person.

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Madiha February 21, 2015 at 4:28 pm

Which complex are you taking and how much zinc?

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holli February 26, 2015 at 11:55 am

Hi Madiha,

I am taking Methylgaurd Plus (the meythlated b complex), and a general Zinc supplement from the heathfood store, 50mg.

Best, Holli

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holli February 26, 2015 at 12:05 pm

p.s. This is the b-complex I am taking: https://shop.thorne.com/methyl-guard-plus-reg

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victoria August 26, 2016 at 10:49 am

This is an older post but a number of insurances do allow an MTHFR test when done with others. Mine was included in the $25 co-pay for my GP. (I happened to be compound heterozygous). A better deal, however, is to simply do the full panel of raw data though 23&me and pay a nominal amount or free to have that data interpreted. Still a lot more bang for the buck compared to the price just for MTHFR quoted above. 🙂

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holli September 9, 2016 at 10:40 am

Yes, thank you, Victoria! It’s nice to see how far the medical community has come in 3 years.

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