What can I do about this? Am I doomed to be ill and die early with this mutation? The short answer is no. There is a lot you can do.
This post has proven to be much harder to write than I anticipated. It turns out explaining MTHFR was the easy part. Figuring out what to do about it is the hard part.
I think I’ll start with what you shouldn’t do. Do not take any vitamins containing folic acid or regular b12. It is best to avoid foods fortified with folic acid as well. Folic acid, remember, is the inactive form and will compete for those folate receptors in your body if you can’t convert it into methyl folate (and if you have a MTHFR mutation you are greatly impaired in your ability to do this.) Also some research shows that the gut will actually preferentially absorb folic acid over the active forms of folate from your food. This means that if you have a meal with lots of folic acid and methyl folate you just might miss out on the methyl folate because the body absorbs all the folic acid instead.
Do consume whole foods in as close to their natural state as possible and prepared in traditional ways. Long before food scientists and dietitians arrived on the scene the people in ancient cultures figured out how to get the most out of the foods available to them. For example, kefir made with cows milk is high in folate while milk itself isn’t. Be sure to include lots of foods rich in folate and food source b12 as well as plenty of methyl donors. Since we have lost a lot of our ancient wisdom about what to eat for health and are facing a never before seen level of toxins in our every day life, just eating what seems right isn’t going to work for most of us.
Food Sources
Methyl-related nutrients are found in three groups of compounds: B Vitamins, Betaine and SAMe, S-Adenosyl-Methionine. In food sources, methyl-related nutrients can be found in foods rich in natural folate, or Vitamin B9, including strawberries, citrus fruits and leafy green vegetables. Good sources of Vitamin B12 are fish, meat, milk, and eggs. Choline oxidizes to form a source of methyl called Betaine, which is found in its highest concentration in beef liver. Toasted wheat germ and eggs are also excellent sources of choline, with cod, beef, brussel sprouts, broccoli, shrimp and salmon being good sources as well. Two large eggs contain 252 mg choline, nearly half of the recommended 550 mg per day for men.
All of those veggie sources of folate are great but this is the real superstar of folate.
Raw duck liver. 738mg per serving. WOW!
No wonder I tend to crave poultry livers despite despising the taste. In this area birds beat beef hands down (beef has more iron and is often thought of as a better liver as far as nutrients are concerned). Chicken liver is 588 mg while beef liver a paltry 290mg. Spinach, which many think of as a terrific source of folate, has only 194mg per serving and gives you a huge dose of oxalate to boot. Turnip greens are a low oxalate choice and also have 194mg per serving. These two are the highest of the leafy greens.
You can check out some of your favorite foods with this tool. Just select the food group and then scroll down and select vitamins and then folate. It will organize those foods from highest to lowest. I found the information fascinating. This does not tell you want kind of folate these foods contain and those of us with MTHFR mutations especially need methyl folate. I was unable to find anywhere that explained which forms of food folate are higher in which foods. Food sources have a mixture of different forms of folate only some of it is methyl folate. The rest needs to be converted.
If you don’t live on top of a mountain in Tibet you may need more than just a nourishing diet. You also need a clean environment. I talked about that some in my post Why Should I Detox? and I plan to talk more about avoiding toxins and removing the ones you have accumulated in other blog posts in the future. People with MTHFR mutations are really impaired in this area. Toxins will just keep building up unless you are proactive about avoiding and removing them. I am speculating that this is a big part of why I am still so sick after 2 years of strict GAPS plus other aggressive measures to detox my body and find healing. I can shake those toxins loose from their storage spots but with my ability to detoxify severely impaired by my MTHFR mutations I can’t get enough of those toxins to leave my body. I am very hopeful that focusing on supporting my methylation cycle through supplements and a focus on folate rich foods I will be able to finally get rid of my stored toxins and find my way to health.
Ok standard disclaimer: I am not a Dr. I don’t even play one on TV. I’m just a person with a MTHFR mutation and lots of health complications sharing what I have learned along the way. Proceed at your own risk. Your mileage may vary.Step one for many people is to go to your Dr and get tested for the MTHFR mutation. I know Lab Corps and Quest both run this test. I’m not sure about other labs. This will only tell you about the 2 best known mutations but it is a good start. There are certain risks that are associated more with one or the other of those so knowing what you are dealing with in regards to those specific mutations can be helpful in directing your treatment. In addition it is good to also test your homocystiene. This is often elevated with MTHFR mutations and is a sign of increased risk of heart attacks and strokes and other problems caused by blood clots. Even without elevated homocysteine there are health risks associated with MTHFR mutations but that one is easy to screen for. Coming up negative on those tests doesn’t mean that a MTHFR mutation isn’t in your health picture. It simply means that those two mutations that were tested for aren’t. As I said in my first post there are 7 common mutations and more than 50 total that have been identified at this time. Also as I said BPA and some other toxins can also cause problems with the enzyme that the MTHFR gene makes so even if you don’t have this mutation the toxins in your life may make it so that you functionally are impaired just like someone who does. If you have children that have symptoms of MTHFR mutations, get mom and dad tested first. If they don’t have one to pass along then there is no point in testing the children and if the kids test positive then mom and dad need to know what they are dealing with too for their own health.Which brings me to the part of this blog post that most of you are looking for: what can to be done to fix this. The good news is that this can largely be mitigated with the right vitamin supplements. There are no expensive patented drugs with risky side effects to consider. However exactly which vitamins and how much is a little tricky. I will lay out some of the main supplements suggested and point you toward places where you can get more information and make up your own mind. Of course we are all individuals and so what works fabulously for me may do nothing for you or even make you feel worse. Also, you need to be aware that once you correct for the deficiencies that you have your body will be able to start detoxing all those stored toxins and that can be quite uncomfortable. This isn’t to say that all uncomfortable sensations are just detox and should be powered through. Do you see how this gets complicated?So first and foremost Methyl Folate (5MTHF, Metafolin). Clearly people with MTHFR mutations need methyl folate and luckily that is a vitamin that can be taken orally and well absorbed. Pretty much everyone agrees on that at this point in time. Beyond that, you will find as many opinions as there are Dr’s prescribing and researchers researching. You can get this in prescription form from your Dr either by itself or a complex with some other vitamins. It is rarely covered by insurance. The prescription form with just Methyl Folate is called Deplin and comes in a 7.5 mg tablet. There are also a few OTC (over the counter) versions of methyl folate, again either by themselves or complexed with other vitamins. Most of them contain 800mcg of methyl folate (1000mcg=1mg). Some people say that you need a minimum of 7.5mg a day if you have MTHFR mutation and some say that the body won’t absorb more than 800mcg at a time. I personally don’t know enough to know who is right. So there is your first dilemma. Also you may read that one pill or another is the only one with true methyl folate. I believe that there was just one source at one point in time but that is no longer true. Also, despite what some may tell you, folinic acid is not methyl folate and if you have a MTHFR mutation you won’t be able to convert it into methyl folate so it isn’t what you need. A few years ago it was thought to be just as good. Confused yet?Next up is methyl b12 (MB12, methylcobalamin). This is one that most Dr’s and researchers agree on as well. This one however has a huge problem It isn’t absorbed well in the gut. There are a few ways that people get around this. The most common and universally accepted as effective way to take MB12 is injections. They are typically done every third day with a very tiny needle. We have done them here and after some fear at the start the kids got used to them and didn’t seem to mind them (we do use a numbing cream on the kids). These need to be compounded and you need a Dr’s prescription for them. There are only a few pharmacies that make this correctly. It is rather expensive and needs to be kept cold and mailed overnight if you aren’t local to one of those pharmacies. Another option is a Nasal spray. I believe this is also only available with a prescription. My Dr said that many find it to be as effective as the injections. I haven’t tried it but am considering it. Sublingual dosing is an OTC option. Certain pills or liquids are made to be held under your tongue and absorbed that way. B-12 Methlcobalamin is one option for this method.There is debate about how effective sublingual dosing is. Lastly of course there are pills which are generally not very effective because of the trouble absorbing MB12 in the gut but they are also OTC and they are widely available.Two other b vitamins probably should be taken in the active form as well. B6 in the form of Pyrodixyl 5′-Phosphate or P5P and B2 as Riboflavin 5′-Phosphate or R5P. Many say that all the b-vitamins should be taken at the same time to keep them in balance. Many of these are included in the multi type supplements that include methyl folate. Homocystex is one of that type of supplement. You can also order them individually. In addition to these vitamins methyl donors are important. TMG or DMGare commonly taken for this purpose.The other thing that is important to supplement with this genetic mutation is minerals. Especially magnesium and zinc but others as well. The reason for this is that with detox minerals bind together with the toxins and both are excreted together. It is difficult to keep up with your mineral needs through food alone unless you are doing a lot of juicing and drinking a lot of bone broth when detoxing heavily. Some minerals, like magnesium can be difficult to take orally and may need to be supplemented transdermally. Epsom salt baths are a good way to support your detox and get supplemental magnesium. Also Magnesium Oil sprayed on the skin is another good source of magnesium. When I am detoxing I get a lot of muscle cramps and spasms and spraying magnesium oil spray right onto those areas helps to relax the muscles. It can sting when you first start using it. If it does and you can’t bear it simply dilute it and over time as your levels get higher it won’t sting any more. I am going to include some links to videos and websites that should help you figure out what to do next. One important key to this is go slow with the supplements, add one at a time and don’t be surprised if you have adverse effects at first. I have begun to add some of these vitamins to what I take and it is tricky to get the right dose that helps me feel better without pushing me too far. I have adjusted my dose up and down a lot as I take too much or not enough and over time I expect to tolerate more and not have these problems with it but getting started is tricky. I have also started my children on these supplements and am seeing lots of detoxing. My youngest just fell apart one morning about an hour after she had a dose with breakfast (you should always take b-vitamins in the morning because they give most people extra energy). I finally figured out that she was detoxing too heavily and gave her some activated charcoal. She was back to herself quite quickly. Lesson learned. It would be a good idea to keep some activated charcoal on hand for yourself when starting these supplements. You may take enough to cause uncomfortable detox symptoms and rather than suffer through them you can take activated charcoal which will often remedy the situation. The only risks with taking it are it can cause constipation and if you take it with a meal it will inhibit absorption of many nutrients so only take it when you need it.www.mthfr.net Dr Ben Lynch’s siteHomocysteX Supplement Dr Ben put together for MTHFR peoplewww.mthfrsupport.com Video #1 of Dr Rawlins explaining MTHFR Dr Rawlins siteDr Rawlins MTHFR Supplement ProtocolHere is an easy way to see many of the supplements I have suggested in this blog post in one place. There are other brands and other sources that are also good. These are just good respected brands and an easy source to share with you.
This is not intended to be exhaustive or to tell you exactly what you need to do. Hopefully this will give you the framework to understand where to begin tackling this for yourself or family members. I thought the videos that Dr Rawlins did were excellent and explained the situation and what to do nicely but of course not everyone agrees with him on every point. His power point is available on his website as well. Dr Ben is dedicated to figuring out how to support people with MTHFR mutations and offers phone consultations. He also generously answers questions on his website as well. I’m sure that there are other Dr’s who do the same if you can’t find anyone local who knows much about MTHFR.
Patty, thank you for taking the time to write about this. I am stewing about what to do. I watched the presentaiton by Dr Rawlins. He said that because there are so many kinds they don't even test for, rather than testing for it, you might just want to start treating it, and see if it helps you. I was kind of thinking that myself. I think Dr Ben said it's $150 to test for the 2 common ones? I'm trying to decide if we're doing an OAT and everything. It would be so much easier to do all this if finances weren't so tight Anyway, now that you are treating it, how much do you think it's costing you - your family of 4 per month to do?
Also, I'm a little confused, does treating it actually CURE it - and you don't pass the gene on to future children. Or do you just have to keep treating it the rest of your life?
First this test was covered by my insurance like any regular lab test. Both quest and lab corps will run it. I paid just a few $ for each of us to be tested. If your insurance won't cover this test then you may need to think harder about getting it done. Up until last week the only treatment we were doing for MTHFR was the mb12 shots. Those cost $45+$25 shipping for a months worth for one person. We had 3 of us on them and got them shipped together but you can do that math. I just found out about an otc nasal spray that I plan to look into for us that is much cheaper. Otherwise we are still figuring this all our for us and I can't say how much it costs a month. As far as curing it, that would be like curing brown hair so that you don't pass it along. What you can do is help your own body to detox so that you aren't passing on excessive toxins to your unborn and nursing baby. You can also educate your children from a young age about how they need to eat to maintain their health and about supplements they may need to take in our toxic world in order to attain and maintain health. If we lived in a much cleaner environment and ate whole foods this gene mutation wouldn't be an issue for most people. It is only modern life with its toxins and nutrient void/calorie dense foods that make it a problem for those who have it. One benefit I can see from the testing is that there are some supplements and risks that go with each mutation (677 and 1298). So knowing if and which you have will help you to know better what to try. It will also make it clear what sorts of risks you have as well. Someone who is hetero for 677 might need some supplements to regain health but then may be able to live quite well on a whole foods diet that emphasizes high folate and methyl foods and avoids toxins. While someone who is homo for 677 and hetero for 1298 may need to be on supplements for life in addition to the high folate diet and low toxin environment. This sort of information is esp important for our daughters since their mthfr status can cause miscarriages of our future grandchildren. In fact their husbands status can also matter since the baby can develop blood clots while in the womb and that is increased if they are homozygous for a particular mutation (getting it from each parent). I wish there was good testing for the entire gene (I have strong suspicions that I will turn out to have more than the double mutation I have already tested positive for) but since there is no research done into the specific needs of those other mutations in some ways it won't really be all that helpful other than to confirm MTHFR mutations for those who test negative for 677 and 1298. There is of course the issue of toxins like bpa shutting down that detox pathway. That sort of thing can be cleared through this nutritional approach and wouldn't be something that would be passed on to children (assuming you aren't passing on a big load of bpa in the womb).
Thanks for writing this! Great info. I have a form of the mutation but I cna't remember which one. I think I have one copy of each. It's so confusing figuring out what to do. Since I have it should I get my girls tested?
Getting them tested in my opinion would be good. Then they can move forward with that information. It isn't going to change in the future so testing once they will be set for life with that info. You might discover through that testing that their father also has one of those mutations. The good news is that if they inherited just one of those mutations from you and none from their father their detox impairment while lessened is still pretty good but if one or both of them inherited both of your mutations that will have a more significant impact on their ability to detox and must be taken into consideration when you and they make choices about things like vitamins and exposure to toxins.
Hi Patty, thanks for writing about this. I have not had a chance to watch the presentation yet, but as you may recall, I have a son with Down Syndrome. That with a few of the other conditions you listed piqued my interest and then on the site you linked to that lists other conditions one is Tetralogy of Fallot which my father-in-law had and also his daughter my sister-in-law. I am preparing a list of labs for my doctor to request. I have insurance and they use Labcorp. It looks like this is the right test at Labcorp: 511238. Can you confirm? I would send a direct link but they don't seem to offer a direct link to the page (you have to search "Test Menu" under the heading "I am a Health Care Provider") I also see this one that can be self-ordered: http://www.healthegoods.com/mthfr-test.html
I just wanted to let people know that the test I linked is no longer available. This is the new link. As of today it is $195 to self order the test. http://mthfr.net/mthfr-testing-mthfr-test-kit/2012/01/25/
Hi Starlene, Yes that is the right test. I think the one you linked from Healthegoods is basically the same test. It would be good to get homocystine run as well. Even if it is low there is a more accurate test that my Dr's office just confirmed lab corp does run. It is talked about on www.mthfr.net
Patty, on the homocystine test. Is that just the blood plasma test? There are four available at Labcorp: 095646 Amino Acid Profile, Quantitative, 24-Hour Urine 912139 Amino Acid Profile, Quantitative, Cerebrospinal Fluid 095638 Amino Acid Profile, Quantitative, Plasma 912147 Amino Acid Profile, Quantitative, Random Urine
Thank you for your help. I already sent the request by email for lab work but they didn't respond back today so I will probably send this over the weekend. Starlene
Hi Patty, I got my test results back. It says, "Result: C677T/C677T. Two copies of the same mutation (C677T and C677T) identified. Results for the A1298C mutation were negative." I feel exactly like you said in Part 1. What now? My naturopath suggested Vitamin B shots, but he said they were the wrong kind of ,
I wonder if you can answer a question for me. I have two sisters with the same mother/same father (I also have half-siblings). Can we assume they would have the same test results or would each one have to have the test done to know for sure? Thanks again for writing about this.
They may have the same results as you or completely different results. Getting your parents tested will give you a better idea of the possibilities for them. You got one 677 mutation from your mother and one from your father. They each may have had only one (in which case your result is a 1 in 4 possibility) Or they could be the same as you or have 1298 mutated. Your son's both have at least 1 677 mutation. You should get your husband tested to know if he has mthfr mutations as well and your sons. At he very least they have impaired ability to utilize folate and remove toxins because of the one mutation that you gave them.
As far as what to take. Absolutely never take regular folic acid again (unless the research changes). Not only does it not give you what you need but it does block your folate receptors with an inactive vitamin (kinda like rt3 does). I would start with methylfolate and build from there. I can currently take it only every other day or so or the detox from it is too much. I take the life extension one that is linked in my post. I also take the combo one that Health E Goods sells on its site occasionally. It is a slow process here building up our ability to take it. We also did the mb12 shots here when we first learned about this in the summer and I do think they helped but they aren't the whole picture so I think we hit another road block till we began to fix the folate issue.
Patty, I wanted to let you know that my sister’s results came back positive for a single C677T. I wish I was closer to my father because I am now curious what his mutations are. I talk to my mom almost every day and am going to try and convince her to get tested. Maybe I will finally okay that “friend request” from my dad on Facebook. 😉 He was diagnosed with schizophrenia a few years ago unfortunately, but interestingly as you know this is a condition of the genetic mutation. I have one more blood sister and not sure if she will get the test done, but it would be interesting to know. I haven’t had the money to get my husband tested yet, but would like to find if he has the mutation. His sister was born with Tetralogy of Fallot, which is an MTHFR mutation, so I suspect he might have at least one mutation since his father had Tetralogy of Fallot. I know it’s not conclusive but since it is a condition it seems probable. Thanks again for writing this article because it has been so helpful and I have shared these posts with many people.
I’m trying to understand the MTHFR stuff. If I get dd tested, find out she has one or both genes, then the major change is what type of B supplements I give her and being sure we detox as well as possible? What other changes would knowing about MTHFR do for us? (I realize the B vitamin thing is *really* important, so I’m not minimizing it, but what else is raised by this and how is it addressed now when she’s a child or longterm? What else do we change in life because of this?)
Getting the right b-vitamins, avoiding the wrong b-vitamins and being very strict about avoiding toxins and helping her detox from the ones she can’t avoid. It is important for her to know this weakness in herself so that she have a good reason to be more careful about toxins than her peers. That is what I know right now. One important thing to remember is there are 7 common mutations and the common test only tests for 2 of them. Furthermore there are 50 mutations of this gene that are currently identified and again only 2 are tested for so if she has symptoms pointing to MTHFR issues but doesn’t test positive for either of those mutations that doesn’t mean she doesn’t have it.
Patty
WOW. So much info thank you for sharing. Just looked and yes my pre-natal has folic acid in it:(. Trying to decide what to do now. I really had no idea it was related to so many issues. Again thank you for sharing.
Leslie
Hi Leslie,
The big deal from prenatals is the folic acid and the iron. The rest is usually the same level as other multivitamins. I personally am very comfortable not taking a prenatal and just taking the methylfolate and whatever else I think I need. I try to get my nutrition from food as much as possible and rely on supplements just when correcting and imbalance.
Hi Patty,
How are you going with the methylfolate now? I am quite scared to take it since 400mg caused a severe detox. It actually felt like I was having a chronic fatigue syndrome relapse like I use to years ago, which makes me think of retracing.. How much do you take and what are your reactions?
I now take 2 homocystex every day and it makes me feel better than if I don’t take it. My 8 year old now takes 1000mg methylfolate a day. My 4 year old can’t tolerate it yet but I am working on other things with her right now.
Hi. I’ve got two children with severe immune dysregulation and serious food intolerances. One can only tolerate the following 8 foods + supplements: (peeled cooked pear, sweet potato, ground turkey, peeled deseeded cooked zucchini, chicken bone broth, cod oil, and salt). The older one tolerates 16: (peeled cooked pear and apple, ground turkey, chicken, beef, peeled deseeded cooked zucchini, cooked broccoli, cooked green beans, avocado, chicken bone broth, GTS Kombucha, cod oil, VSL#3, raw orange =), salt and thyme)
They both have low GSH. They both have high B12. But, I don’t think the B12 is coming from their diet (since their diet is so limited) and it isn’t supplemented. It makes me think perhaps the B12 isn’t being utilized. I am trying to hard to figure out where the breakdown is in the cycle…. Anyways, I was thinking that maybe as a next food I should try chicken liver… Do you eat it raw? How do u make it palatable? (I’m serving it to a 2 year old and 4 year old and can only mix it with the above mentioned ingredients… Any thoughts on high B12 or serving kids liver?? Thank you!!! =)
Sounds like it is likely a MTHFR issue (at least in part). There is a more accurate test for b12 out there. I think it is talked about in the book Could it be B12 That can tell you what is really going on with their b12. Also have you tested them for MTHFR mutations? The breakdown is likely somewhere in the methylation cycle. It would help if you knew if they have one (or more) of the tested for MTHFR mutations.
Liver is a good idea. My younger dd likes to eat it raw and frozen. I prefer it that way as well since I really can’t taste it. (My 4 year old adores it raw and always has). I just cut it into pill sized pieces and swallow it with a warm drink. She chews it up and enjoys every bite.
Some people make a pate with it but that usually includes butter, and spices and I don’t really see those on your list. Or you can fry it but that wouldn’t be raw. Is there anything acidic that they can have? vinegar, lemon juice, well fermented kombucha? You could make fruit scrap vinegar from pear and then soak the liver in that to make the taste much more mild. (It looks like both kids can have pear).
With those foods lists I would be a bit concerned about copper/zinc balance. Have you gotten that tested? Avocado is really high in copper and beef has some zinc but none of the rest of the foods on your list are very high in zinc. You need a lot of zinc for digestion to work right. (keeping zinc up is an issue here for my family since detoxing wastes minerals and being low zinc means you won’t absorb minerals well because digestion is impaired, esp of meat). Did your kids ever take a ppi? That also makes being low zinc more likely.
Wow, all of this is new to me. I stumbled across this researching tongue and lip ties which my 11 m old has, my husband, my dad, my husbands sister and so on. We also have a lot of the conditions listed as being due to MTHFR (or GAPS), in our family. I’m pg with baby #2 and have been eating a TF diet, but am still worried he will have tongue tie or worse. (he didn’t show with Spinal bifida or downs on the U.S. thankfully)
Now my question is, I am looking to get tested, but I don’t know if I will find anyone (we are in a small city in Canada). Can I just go ahead and start taking those supplements? Especially before we TTC baby #3???
Patty, I have suffered from migraines since I was 12, 17 years now. And I have recently made a connection to the MAOA Mutation. Basically lacking the enzyme to process certain amino acids. And there are different levels too. But my sensitivity to all these amino acids finally makes sense. But I was noticing that this mutation is mentioned on the mthfr.net as a next step in figuring out what may be wrong. But I can’t find anything on it there. I’m just wondering if you may have come across this other mutation in your studies. Thanks so much for any advice you may have.
JEannie,
I wish that I could help you but I simply haven’t learned anything about that particular mutation. Keep looking. Have you done 23andme or some other genome test? Or are you simply guessing what your mutations are. I was surprised by some once I got tested, but not by others.
No, everything just points to it, finally connected all the dots There is hardly any information out there about it. Really disheartening. I also keep wondering, is this something I can heal from, or would it be something I’m stuck with.
My thought is that a genetic difference is for life, however the symptoms from it can be healed. You will probably always have the weakness in that area and will have to be careful with your diet and toxic exposures but that doesn’t mean that there is no way to be have vibrant good health.
Thnks so much for your help! I’ve just been diagnosed and have other health issues to compound it all. This has helped me a lot, so I now have a starting point of reference. I made a decision not to have children because of all this. My husband is sad, but he understands. He has been my rock through all this, and I am so grateful.
Just finished reading both parts and love the way you are explaining this! Having only just gotten started with this specific (MTHFR) research since my son was diagnosed homozygous C677T in October, after me begging and pleading with the hospital to do more testing.
A year ago, he went to the ER after several courses of antibiotics to treat a respiratory infection weren’t working and we thought had become pneumonia. Turns out he had multiple blood clots and was in heart failure. After two LVADS (that clotted) and several balloon pumps, that failed, he had a heart transplant one year to the day from his first admission. Since the mutation was only discovered in October and isn’t being directly addressed, which is frustrating as all heck, he is now on a dangerous drug cocktail for the rest of his life and having terrible side effects.
What I don’t understand, is why the hospital tested for it, found it and won’t directly address it? They ARE having to indirectly address it when it shows issues in lab results. I’m at my wits end, trying to process everything that has gone on this past year. It’s so overwhelming! Ms. A recently posted…Home Is Where The Heart Is…
Ms A. I am so sorry to hear about your son and all that you have gone through in this past year. It is extremely frustrating to be where we are in history with few people truly understanding the implications of this genetic mutation at this time and watching how it has severely impacted your family. There are some experts in MTHFR mutation out there who may be able to help you. I believe that Dr Ben Lynch now has a list of Dr’s on his website so if you haven’t been over there I would go there. He has lots more info than I have here and goes much deeper into it. I’m just trying to help people be aware of what this is and the implications so that they can get started addressing it. I’m not a Dr and it sounds like your son and really your whole family needs the information that someone who really understands this deeply can give to you. Since this is genetic it is important that all of you get tested and keep on top of your own health issues that can come from it.
I can’t help wondering if this had been found at the BEGINNING of his journey, if perhaps this wouldn’t have made a difference in what ended up happening. I believe it would!
I have been researching for years, even before I could do it on the computer, without much help from the doctors. I knew our family had something going on. I was on the right track, just didn’t find out anything definitive until my son had more extensive labs to try to figure out the clotting issues… which I had to beg for.
I am reading Dr. Ben, but your post makes it much more understandable and I thank you for that! Ms. A recently posted…Home Is Where The Heart Is…
Ms A.
It is so hard to look back and wonder if knowing something sooner could have changed the present. I’m so sorry you have that to live with but there will always be unknowns and we can only do our best and it sure sounds like that is what you are doing. If you had known years ago you still might not have known what to do with that information this is an exploding field.
I’m so glad that my post makes it understandable. That was why I wrote it. To help others understand enough about this subject to get started with testing and supplementing and to understand why this might be important.
I enjoyed your blog. I’m compound heterozygous MTHFR (both 677 and 1298). I’m taking methylfolate 400mcg a day in two multivitamins spread throughout the day (so 200mcg in each) and 50 mcg b12 methyl/adensocobalmin. I have had anxiety and panic disorder since my last big stressful period about 7 years ago and mood issues before that. I had another very stressful time and last summer and have been dealing with severe digestive issues since then. I started a low acid/low histamine diet three weeks ago and I can eat with little pain now. I still have throat spasms and irritation though. My doctor upped my b12 to 1000mcg drops and methylfolate to 1000mcg in addition to starting my multivitamin again and DMG liquid. I read all about the importance of starting slow and am taking just a bit of what he prescribed. So far it’s been OK and I haven’t needed niacin. How are you guys doing on this? Did you test your SNPS as well? I’m waiting on CBS results and considering Yasko’s blood test.
Hi Terri,
We are doing ok with the sups. Sounds like a good plan to keep increasing yours but doing it slowly and watching for reactions. Slow and steady wins the race here. We have done the 23andme testing and I’m happy with the results it has given us.
Hi, I’ve had digestive issues, migraines, mental health issues, and miscarriages since my twenties. I have three living children one if whom has severe IgE (allergies). We’ve been gluten free dairy mostly free etc for years but this spring a naturopath suggested we get tested. Me and the kids are all hetero c677t but dh is homo and come to find out all three kids have MAO, CBS, DAO, and COMT the one with IgE is homo for all four. The doctor said to take her to a genetic counselor before she gets pregnant, if she decides to get pregnant and frankly I’m sort of consumed with grief for grand kids I may have never had anyway. She has really severe PMDD, she throws things and hits people (she’s 18) but as soon as she starts her period same sweet, smart kid she’s alwYs been. This can’t be autism can it, it’s intermittent. Also, I’m kind of overwhelmed, what are these strips your talking about to test sulfur. Were just trying to go off garlic, broccoli, chicken etc I feel like I have five bodies and five diets ; )
One more minor thing, my son is going to fifth grade from homeschooling and he farts so much which is really embarrassing for him, Is this sulfur? Detox? Have any tips
Were gonna try the seeking health probiotics? Thanks so much, I have been perusing dr bens site and trying to get Yaskos book, but you are very clear. A light in the storm.
In my opinion addressing diet is the place to start with all of those issues that you have mentioned. You really do need a knowledgeable health care practitioner to assist you in sorting through it all and I suspect that it will be a challenge to find one who is able to really help you but so worth it when you find them.
is one option for this method.There is debate about how effective sublingual dosing is. Lastly of course there are pills which are generally not very effective because of the trouble absorbing MB12 in the gut but they are also OTC and they are widely available.
are commonly taken for this purpose.
sprayed on the skin is another good source of magnesium. When I am detoxing I get a lot of muscle cramps and spasms and spraying magnesium oil spray right onto those areas helps to relax the muscles. It can sting when you first start using it. If it does and you can’t bear it simply dilute it and over time as your levels get higher it won’t sting any more. 
Patty, thank you for taking the time to write about this. I am stewing about what to do. I watched the presentaiton by Dr Rawlins. He said that because there are so many kinds they don't even test for, rather than testing for it, you might just want to start treating it, and see if it helps you. I was kind of thinking that myself. I think Dr Ben said it's $150 to test for the 2 common ones? I'm trying to decide if we're doing an OAT and everything. It would be so much easier to do all this if finances weren't so tight
Anyway, now that you are treating it, how much do you think it's costing you - your family of 4 per month to do?
Also, I'm a little confused, does treating it actually CURE it - and you don't pass the gene on to future children. Or do you just have to keep treating it the rest of your life?
First this test was covered by my insurance like any regular lab test. Both quest and lab corps will run it. I paid just a few $ for each of us to be tested. If your insurance won't cover this test then you may need to think harder about getting it done.
Up until last week the only treatment we were doing for MTHFR was the mb12 shots. Those cost $45+$25 shipping for a months worth for one person. We had 3 of us on them and got them shipped together but you can do that math. I just found out about an otc nasal spray that I plan to look into for us that is much cheaper. Otherwise we are still figuring this all our for us and I can't say how much it costs a month.
As far as curing it, that would be like curing brown hair so that you don't pass it along. What you can do is help your own body to detox so that you aren't passing on excessive toxins to your unborn and nursing baby. You can also educate your children from a young age about how they need to eat to maintain their health and about supplements they may need to take in our toxic world in order to attain and maintain health. If we lived in a much cleaner environment and ate whole foods this gene mutation wouldn't be an issue for most people. It is only modern life with its toxins and nutrient void/calorie dense foods that make it a problem for those who have it.
One benefit I can see from the testing is that there are some supplements and risks that go with each mutation (677 and 1298). So knowing if and which you have will help you to know better what to try. It will also make it clear what sorts of risks you have as well. Someone who is hetero for 677 might need some supplements to regain health but then may be able to live quite well on a whole foods diet that emphasizes high folate and methyl foods and avoids toxins. While someone who is homo for 677 and hetero for 1298 may need to be on supplements for life in addition to the high folate diet and low toxin environment. This sort of information is esp important for our daughters since their mthfr status can cause miscarriages of our future grandchildren. In fact their husbands status can also matter since the baby can develop blood clots while in the womb and that is increased if they are homozygous for a particular mutation (getting it from each parent). I wish there was good testing for the entire gene (I have strong suspicions that I will turn out to have more than the double mutation I have already tested positive for) but since there is no research done into the specific needs of those other mutations in some ways it won't really be all that helpful other than to confirm MTHFR mutations for those who test negative for 677 and 1298.
There is of course the issue of toxins like bpa shutting down that detox pathway. That sort of thing can be cleared through this nutritional approach and wouldn't be something that would be passed on to children (assuming you aren't passing on a big load of bpa in the womb).
Thanks for writing this! Great info. I have a form of the mutation but I cna't remember which one. I think I have one copy of each. It's so confusing figuring out what to do. Since I have it should I get my girls tested?
Getting them tested in my opinion would be good. Then they can move forward with that information. It isn't going to change in the future so testing once they will be set for life with that info. You might discover through that testing that their father also has one of those mutations. The good news is that if they inherited just one of those mutations from you and none from their father their detox impairment while lessened is still pretty good but if one or both of them inherited both of your mutations that will have a more significant impact on their ability to detox and must be taken into consideration when you and they make choices about things like vitamins and exposure to toxins.
Hi Patty, thanks for writing about this. I have not had a chance to watch the presentation yet, but as you may recall, I have a son with Down Syndrome. That with a few of the other conditions you listed piqued my interest and then on the site you linked to that lists other conditions one is Tetralogy of Fallot which my father-in-law had and also his daughter my sister-in-law. I am preparing a list of labs for my doctor to request. I have insurance and they use Labcorp. It looks like this is the right test at Labcorp: 511238. Can you confirm? I would send a direct link but they don't seem to offer a direct link to the page (you have to search "Test Menu" under the heading "I am a Health Care Provider") I also see this one that can be self-ordered: http://www.healthegoods.com/mthfr-test.html
I just wanted to let people know that the test I linked is no longer available. This is the new link. As of today it is $195 to self order the test. http://mthfr.net/mthfr-testing-mthfr-test-kit/2012/01/25/
Hi Starlene,
Yes that is the right test. I think the one you linked from Healthegoods is basically the same test. It would be good to get homocystine run as well. Even if it is low there is a more accurate test that my Dr's office just confirmed lab corp does run. It is talked about on www.mthfr.net
Patty, on the homocystine test. Is that just the blood plasma test? There are four available at Labcorp:
095646 Amino Acid Profile, Quantitative, 24-Hour Urine
912139 Amino Acid Profile, Quantitative, Cerebrospinal Fluid
095638 Amino Acid Profile, Quantitative, Plasma
912147 Amino Acid Profile, Quantitative, Random Urine
Thank you for your help. I already sent the request by email for lab work but they didn't respond back today so I will probably send this over the weekend. Starlene
Yes, plasma is what you want.
Thanks!
Hi Patty, I got my test results back. It says, "Result: C677T/C677T. Two copies of the same mutation (C677T and C677T) identified. Results for the A1298C mutation were negative." I feel exactly like you said in Part 1. What now? My naturopath suggested Vitamin B shots, but he said they were the wrong kind of ,
I wonder if you can answer a question for me. I have two sisters with the same mother/same father (I also have half-siblings). Can we assume they would have the same test results or would each one have to have the test done to know for sure? Thanks again for writing about this.
They may have the same results as you or completely different results. Getting your parents tested will give you a better idea of the possibilities for them. You got one 677 mutation from your mother and one from your father. They each may have had only one (in which case your result is a 1 in 4 possibility) Or they could be the same as you or have 1298 mutated. Your son's both have at least 1 677 mutation. You should get your husband tested to know if he has mthfr mutations as well and your sons. At he very least they have impaired ability to utilize folate and remove toxins because of the one mutation that you gave them.
As far as what to take. Absolutely never take regular folic acid again (unless the research changes). Not only does it not give you what you need but it does block your folate receptors with an inactive vitamin (kinda like rt3 does). I would start with methylfolate and build from there. I can currently take it only every other day or so or the detox from it is too much. I take the life extension one that is linked in my post. I also take the combo one that Health E Goods sells on its site occasionally. It is a slow process here building up our ability to take it. We also did the mb12 shots here when we first learned about this in the summer and I do think they helped but they aren't the whole picture so I think we hit another road block till we began to fix the folate issue.
Patty, I wanted to let you know that my sister’s results came back positive for a single C677T. I wish I was closer to my father because I am now curious what his mutations are. I talk to my mom almost every day and am going to try and convince her to get tested. Maybe I will finally okay that “friend request” from my dad on Facebook. 😉 He was diagnosed with schizophrenia a few years ago unfortunately, but interestingly as you know this is a condition of the genetic mutation. I have one more blood sister and not sure if she will get the test done, but it would be interesting to know. I haven’t had the money to get my husband tested yet, but would like to find if he has the mutation. His sister was born with Tetralogy of Fallot, which is an MTHFR mutation, so I suspect he might have at least one mutation since his father had Tetralogy of Fallot. I know it’s not conclusive but since it is a condition it seems probable. Thanks again for writing this article because it has been so helpful and I have shared these posts with many people.
Where I said Tetralogy of Fallot is a “MTHFR mutation” I meant it is a condition which could be caused by the MTHFR genetic mutation.
Patty,
I’m trying to understand the MTHFR stuff. If I get dd tested, find out she has one or both genes, then the major change is what type of B supplements I give her and being sure we detox as well as possible? What other changes would knowing about MTHFR do for us? (I realize the B vitamin thing is *really* important, so I’m not minimizing it, but what else is raised by this and how is it addressed now when she’s a child or longterm? What else do we change in life because of this?)
Getting the right b-vitamins, avoiding the wrong b-vitamins and being very strict about avoiding toxins and helping her detox from the ones she can’t avoid. It is important for her to know this weakness in herself so that she have a good reason to be more careful about toxins than her peers. That is what I know right now. One important thing to remember is there are 7 common mutations and the common test only tests for 2 of them. Furthermore there are 50 mutations of this gene that are currently identified and again only 2 are tested for so if she has symptoms pointing to MTHFR issues but doesn’t test positive for either of those mutations that doesn’t mean she doesn’t have it.
Patty
WOW. So much info thank you for sharing. Just looked and yes my pre-natal has folic acid in it:(. Trying to decide what to do now. I really had no idea it was related to so many issues. Again thank you for sharing.
Leslie
Hi Leslie,
The big deal from prenatals is the folic acid and the iron. The rest is usually the same level as other multivitamins. I personally am very comfortable not taking a prenatal and just taking the methylfolate and whatever else I think I need. I try to get my nutrition from food as much as possible and rely on supplements just when correcting and imbalance.
Hi Patty,
How are you going with the methylfolate now? I am quite scared to take it since 400mg caused a severe detox. It actually felt like I was having a chronic fatigue syndrome relapse like I use to years ago, which makes me think of retracing.. How much do you take and what are your reactions?
I now take 2 homocystex every day and it makes me feel better than if I don’t take it. My 8 year old now takes 1000mg methylfolate a day. My 4 year old can’t tolerate it yet but I am working on other things with her right now.
Hi. I’ve got two children with severe immune dysregulation and serious food intolerances. One can only tolerate the following 8 foods + supplements: (peeled cooked pear, sweet potato, ground turkey, peeled deseeded cooked zucchini, chicken bone broth, cod oil, and salt). The older one tolerates 16: (peeled cooked pear and apple, ground turkey, chicken, beef, peeled deseeded cooked zucchini, cooked broccoli, cooked green beans, avocado, chicken bone broth, GTS Kombucha, cod oil, VSL#3, raw orange =), salt and thyme)
They both have low GSH. They both have high B12. But, I don’t think the B12 is coming from their diet (since their diet is so limited) and it isn’t supplemented. It makes me think perhaps the B12 isn’t being utilized. I am trying to hard to figure out where the breakdown is in the cycle…. Anyways, I was thinking that maybe as a next food I should try chicken liver… Do you eat it raw? How do u make it palatable? (I’m serving it to a 2 year old and 4 year old and can only mix it with the above mentioned ingredients… Any thoughts on high B12 or serving kids liver?? Thank you!!! =)
Sounds like it is likely a MTHFR issue (at least in part). There is a more accurate test for b12 out there. I think it is talked about in the book Could it be B12 That can tell you what is really going on with their b12. Also have you tested them for MTHFR mutations? The breakdown is likely somewhere in the methylation cycle. It would help if you knew if they have one (or more) of the tested for MTHFR mutations.
Liver is a good idea. My younger dd likes to eat it raw and frozen. I prefer it that way as well since I really can’t taste it. (My 4 year old adores it raw and always has). I just cut it into pill sized pieces and swallow it with a warm drink. She chews it up and enjoys every bite.
Some people make a pate with it but that usually includes butter, and spices and I don’t really see those on your list. Or you can fry it but that wouldn’t be raw. Is there anything acidic that they can have? vinegar, lemon juice, well fermented kombucha? You could make fruit scrap vinegar from pear and then soak the liver in that to make the taste much more mild. (It looks like both kids can have pear).
With those foods lists I would be a bit concerned about copper/zinc balance. Have you gotten that tested? Avocado is really high in copper and beef has some zinc but none of the rest of the foods on your list are very high in zinc. You need a lot of zinc for digestion to work right. (keeping zinc up is an issue here for my family since detoxing wastes minerals and being low zinc means you won’t absorb minerals well because digestion is impaired, esp of meat). Did your kids ever take a ppi? That also makes being low zinc more likely.
Wow, all of this is new to me. I stumbled across this researching tongue and lip ties which my 11 m old has, my husband, my dad, my husbands sister and so on. We also have a lot of the conditions listed as being due to MTHFR (or GAPS), in our family. I’m pg with baby #2 and have been eating a TF diet, but am still worried he will have tongue tie or worse. (he didn’t show with Spinal bifida or downs on the U.S. thankfully)
Now my question is, I am looking to get tested, but I don’t know if I will find anyone (we are in a small city in Canada). Can I just go ahead and start taking those supplements? Especially before we TTC baby #3???
Thansk so much for your info in this regard!
Patty, I have suffered from migraines since I was 12, 17 years now. And I have recently made a connection to the MAOA Mutation. Basically lacking the enzyme to process certain amino acids. And there are different levels too. But my sensitivity to all these amino acids finally makes sense. But I was noticing that this mutation is mentioned on the mthfr.net as a next step in figuring out what may be wrong. But I can’t find anything on it there. I’m just wondering if you may have come across this other mutation in your studies. Thanks so much for any advice you may have.
JEannie,
I wish that I could help you but I simply haven’t learned anything about that particular mutation. Keep looking. Have you done 23andme or some other genome test? Or are you simply guessing what your mutations are. I was surprised by some once I got tested, but not by others.
No, everything just points to it, finally connected all the dots There is hardly any information out there about it. Really disheartening. I also keep wondering, is this something I can heal from, or would it be something I’m stuck with.
My thought is that a genetic difference is for life, however the symptoms from it can be healed. You will probably always have the weakness in that area and will have to be careful with your diet and toxic exposures but that doesn’t mean that there is no way to be have vibrant good health.
Thnks so much for your help! I’ve just been diagnosed and have other health issues to compound it all. This has helped me a lot, so I now have a starting point of reference. I made a decision not to have children because of all this. My husband is sad, but he understands. He has been my rock through all this, and I am so grateful.
Just finished reading both parts and love the way you are explaining this! Having only just gotten started with this specific (MTHFR) research since my son was diagnosed homozygous C677T in October, after me begging and pleading with the hospital to do more testing.
A year ago, he went to the ER after several courses of antibiotics to treat a respiratory infection weren’t working and we thought had become pneumonia. Turns out he had multiple blood clots and was in heart failure. After two LVADS (that clotted) and several balloon pumps, that failed, he had a heart transplant one year to the day from his first admission. Since the mutation was only discovered in October and isn’t being directly addressed, which is frustrating as all heck, he is now on a dangerous drug cocktail for the rest of his life and having terrible side effects.
What I don’t understand, is why the hospital tested for it, found it and won’t directly address it? They ARE having to indirectly address it when it shows issues in lab results. I’m at my wits end, trying to process everything that has gone on this past year. It’s so overwhelming!
Ms. A recently posted…Home Is Where The Heart Is…
Ms A. I am so sorry to hear about your son and all that you have gone through in this past year. It is extremely frustrating to be where we are in history with few people truly understanding the implications of this genetic mutation at this time and watching how it has severely impacted your family. There are some experts in MTHFR mutation out there who may be able to help you. I believe that Dr Ben Lynch now has a list of Dr’s on his website so if you haven’t been over there I would go there. He has lots more info than I have here and goes much deeper into it. I’m just trying to help people be aware of what this is and the implications so that they can get started addressing it. I’m not a Dr and it sounds like your son and really your whole family needs the information that someone who really understands this deeply can give to you. Since this is genetic it is important that all of you get tested and keep on top of your own health issues that can come from it.
I can’t help wondering if this had been found at the BEGINNING of his journey, if perhaps this wouldn’t have made a difference in what ended up happening. I believe it would!
I have been researching for years, even before I could do it on the computer, without much help from the doctors. I knew our family had something going on. I was on the right track, just didn’t find out anything definitive until my son had more extensive labs to try to figure out the clotting issues… which I had to beg for.
I am reading Dr. Ben, but your post makes it much more understandable and I thank you for that!
Ms. A recently posted…Home Is Where The Heart Is…
Ms A.
It is so hard to look back and wonder if knowing something sooner could have changed the present. I’m so sorry you have that to live with but there will always be unknowns and we can only do our best and it sure sounds like that is what you are doing. If you had known years ago you still might not have known what to do with that information this is an exploding field.
I’m so glad that my post makes it understandable. That was why I wrote it. To help others understand enough about this subject to get started with testing and supplementing and to understand why this might be important.
I enjoyed your blog. I’m compound heterozygous MTHFR (both 677 and 1298). I’m taking methylfolate 400mcg a day in two multivitamins spread throughout the day (so 200mcg in each) and 50 mcg b12 methyl/adensocobalmin. I have had anxiety and panic disorder since my last big stressful period about 7 years ago and mood issues before that. I had another very stressful time and last summer and have been dealing with severe digestive issues since then. I started a low acid/low histamine diet three weeks ago and I can eat with little pain now. I still have throat spasms and irritation though. My doctor upped my b12 to 1000mcg drops and methylfolate to 1000mcg in addition to starting my multivitamin again and DMG liquid. I read all about the importance of starting slow and am taking just a bit of what he prescribed. So far it’s been OK and I haven’t needed niacin. How are you guys doing on this? Did you test your SNPS as well? I’m waiting on CBS results and considering Yasko’s blood test.
Hi Terri,
We are doing ok with the sups. Sounds like a good plan to keep increasing yours but doing it slowly and watching for reactions. Slow and steady wins the race here. We have done the 23andme testing and I’m happy with the results it has given us.
Hi, I’ve had digestive issues, migraines, mental health issues, and miscarriages since my twenties. I have three living children one if whom has severe IgE (allergies). We’ve been gluten free dairy mostly free etc for years but this spring a naturopath suggested we get tested. Me and the kids are all hetero c677t but dh is homo and come to find out all three kids have MAO, CBS, DAO, and COMT the one with IgE is homo for all four. The doctor said to take her to a genetic counselor before she gets pregnant, if she decides to get pregnant and frankly I’m sort of consumed with grief for grand kids I may have never had anyway. She has really severe PMDD, she throws things and hits people (she’s 18) but as soon as she starts her period same sweet, smart kid she’s alwYs been. This can’t be autism can it, it’s intermittent. Also, I’m kind of overwhelmed, what are these strips your talking about to test sulfur. Were just trying to go off garlic, broccoli, chicken etc I feel like I have five bodies and five diets ; )
One more minor thing, my son is going to fifth grade from homeschooling and he farts so much which is really embarrassing for him, Is this sulfur? Detox? Have any tips
Were gonna try the seeking health probiotics? Thanks so much, I have been perusing dr bens site and trying to get Yaskos book, but you are very clear. A light in the storm.
In my opinion addressing diet is the place to start with all of those issues that you have mentioned. You really do need a knowledgeable health care practitioner to assist you in sorting through it all and I suspect that it will be a challenge to find one who is able to really help you but so worth it when you find them.
Look into Fructose malabsorption for your son. terrible stinky gas like burning tires. He may be a Methane producer when he eat fructose and fructans.
What were the symptoms that your child had that made you believe he/she was detoxing too much or too rapidly? How does activated charcoal treat that?