A Story of Healing: Detoxification and MTHFR

Amie Valpone

Rather than enjoying the youth and virility of my twenties, some of the “best years of my life,” I suffered from a decade of chronic illness. It started with severe leg swelling and chronic pain on a daily basis. By mid afternoon, I carried what felt like bricks of water in my legs. On top of that, I was plagued by chronic digestive issues that left me feeling sick, lethargic and just plain gross. This was what I suffered from before I started my journey of detox, which led me to feeling alive, healthier and more energetic than I had felt in over a decade.

One of the crucial things I learned on my healing journey is that because we are all encoded with a unique DNA, each of us has a unique response to chemical toxins and how well we methylate.  Some of us can detox and process these toxins, while some of us cannot. I, for example, was born without the enzyme MTHFR, an enzyme that doesn’t allow me to detox properly. This is why some people feel sick when they walk into a store with perfume and others don’t have any trouble and why some people get sick from mold exposure while others don’t show any symptoms. And also, why some of us have a hangover after drinking, while others are fine the next day! Some people cannot detox these toxic substances from their bodies, and in turn, they need a little extra support. Many other people like me, who have this MTHFR missing enzyme, can work with their Integrative Medicine M.D.’s to help their bodies remove toxins.   

Methylenetetrahydrofolate reductase (MTHFR) is both an enzyme and a gene; it is crucial to the body because it processes folate (folic acid) for our bodies to utilize it. Mutations in this gene result in decreased activity of the enzyme, which causes issues with the methylation in our body, leading to important body functions to become disrupted – which include the ability to eliminate toxins properly. Methylation is an important biochemical process that is essential for the proper function of nearly all of your body’s systems; it occurs billions of times each second and helps repair your DNA, controls homocysteine, recycles molecules your body needs for detoxification, helps keep inflammation in check and maintains your mood. To avoid serious conditions that are caused by the breakdown in methylation, the key is to maximize methylation (protect your methylation) by understanding what affects your methylation process such as toxic exposure, smoking, medications, poor diet, malabsorption and decreased stomach acid.

The main goal to help my missing MTHFR enzyme as I mentioned above is to optimize methylation, which refers to a series of approximately 100 reactions that are responsible for the production of T-cells (immune cells), glutathione (vital for immune function), energy production and for creating dopamine and serotonin.  Anyone with 1 or 2 copies of MTHFR, the enzyme that converts folic acid into methylfolate, like myself, tend to have lower immune function. Myself and anyone lacking the MTHFR enzyme can benefit from taking B12 and methyl folate; they work together and are prime components for methylation reactions.

My lack of MTHFR has forced me to take precautions, while other people can detox easily and remove toxins, I cannot. A good place to start cleaning up your lifestyle is with your food. Eating more dark, leafy greens such as dandelion, mustard, collard, beet greens, spinach, kale, watercress, bok choy, escarole and Swiss chard, which are the most abundant sources of the nutrients our bodies need for optimal methylation. Also, looking for good sources of B vitamins from your food such as sunflower seeds, eggs, walnuts, almonds, whole grains and asparagus. Probiotic-rich foods are also a plus because they keep your gut healthy so you can properly absorb the vitamins you get.  I use organic sauerkraut, chickpea miso and kimchi.  Start by reading labels and eating organic fruits and vegetables from the Dirty Dozen without pesticides, herbicides and other chemicals. You can also eat organic meats, poultry and eggs so that you are not ingesting growth hormones or antibiotics from the animals. I am a dedicated organic consumer – but I wasn’t always. It wasn’t until I learned what those pesticides, antibiotics and growth hormones were doing to my body. Now, I eat a 100% organic whole food diet filled with lean proteins, healthy fats and a wide variety of fresh veggies.  I avoid seafood that is high in heavy metals such as tuna and swordfish, I cannot eat anything out of a can or box because my body reacts to them – so I eat pure, clean, whole foods. Healthy fats such as nuts, seeds and avocados as well as veggies such as spinach, bok choy, Swiss chard, collard greens, sweet potatoes and kale and protein such as chia seeds, ground flax seeds, and organic poultry are a part of my daily eats. It’s tough, but it’s doable and let me tell you – I feel 100% better after removing the toxic junk that was in my life.

Detoxing and methylation are the links to better health that I believe is missing in Western medicine. Trust me; there is hope. There is an answer. Breathe, meditate and focus on the present. Take everything one day at a time; you will get there. You will heal. Your answer IS out there.

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  • pureness

    Very interesting article. How did you test for MTHFR? I am quite sensible to a lot of food and get almost sick when drinking even just 2 glasses of champagne or fine red wine. I would like to know what test I need to have done, please.

  • GKS

    It’s a blood test. Ask for it from your doctor. If you have your homocysteine levels checked and they’re high, it could be an indicator that you might have a MTHFR mutation.

  • spiralgal

    Isn’t it important to test for SUOX, CBS and other SNPs as well? Some people can’t eat a lot of sulfur veggies and need to deal with this before going through an MTHFR protocol? I wonder about that when chronically ill people change their diets to a more sulfur enriched veggie diet, but don’t feel better and maybe worse.

  • LaLa Rockefella’

    Very interesting, I agree. My daughter was recently diagnosed w/Gilbert’s Syndrome (and I am affected my much of what you mentioned) is MTHFR related to bilirubin?
    Thank you.

  • NEN

    I agree it is important to test for other snps. My doctor tested me for MTHFR and found I had one copy. But the more I supported myself with sulfur foods and supplements the worse I felt. After doing the 23 and me test I learned I was CBS homozygous and had several other serious mutations. When I backed off the high sulfur diet and changed up my supplement protocol I had a dramatic improvement in symptoms.

  • Rhonda

    Wow, I have been going through so much sickness and I eat so good and my husband can’t understand why I have to eat such clean food and I’m still not completely well. He and my son eat whatever they want and have no problems so I just kept telling him I guess I am still healing. I can’t eat anything from a box or can either and certain fresh food, which doesn’t make sense to me.You are the first person I know that has the same problems, although I have different symptoms. Now how can I tell my doctor about how to test me for this? It is so hard to go to my kids school functions without eating what is offered. I say to myself am I the only person that can’t eat!!! I watch people eat and its hard not to get mad about it. Thank you for your article at least I know there is hope for me.

  • FBJones

    Not sure of the connection but I have both Gilberts and MTHFR mutations (so far, waiting on more test results). Methylation testing through Dr. Amy Yasko…she really knows her stuff too!

  • FBJones

    Not sure of the connection but I have both Gilberts and MTHFR mutations (so far, waiting on more test results). Methylation testing through Dr. Amy Yasko…she really knows her stuff too!

  • Artcat58

    I have a compound heterozygous mutation. I have suffered from depression since age seven. Antidepressants were of minimal help. I was also diagnosed with rheumatoid arthritis eighteen years ago. I began treatment with daily injections of methylated B12 w/Folate. In addition I take SAMe and glutathione. The first week I started with my doctors protocol, I felt better, emotionally than I have in over forty years. The depression I have had, most of my life, is gone! I haven’t had as dramatic physical improvement. In fact, my joint pain and inflammation levels have increased! Maybe I am detoxing too fast, I’m not sure. The improvement in my mood has been such a blessing! I am so grateful for finding this information and getting treatment. I can only encourage you to get the blood test to see if you could benefit from treatment. The results might be outstanding!

  • Jaimie

    When you got the results back from the 23 and me test….what type of doctor did you see that went into detail of everything? And to direct you on diet & supplements.

  • Brooke

    23 and me are no longer offering health related genetics testing….FYI

  • Wendy

    You can upload your raw genetic data to may sites. One is geneticgenie.com

  • Wendy

    It’s actually http://geneticgenie.org/
    Sorry about that.

  • MissBloat

    Hi spiralgal and NEN-

    I have been working with an Integrative MD. I was diagnosed with Leaky Gut 6 months ago and have seen been on a very strict, clean diet, have detoxified my life, and am on many supplements. My symptoms have, however, worsened substantially. I have been feeling so confused and disheartened by my progress.

    Recently, I did 23andMe and am heterozygous MTHFR, heterozygous CBS A360A and homozygous CBS A360A.

    Reading your comments gives me such hope. My diet has been very high in sulfur and I wonder if that may be contributing to the problem. It seems the healthier I eat, the more sick I feel!

    Any info you might share with me about the diet you found to work and the supplements you found most effective in lessening your symptoms would be so, so helpful.

    Thank you so much.

  • Mim Spitney

    Its important for anyone reading this to consider not vaccinating if you have MTHFR mutations. This includes your children if they also have the mutations. It can be very dangerous. My husband, children and I all have multiple mutations and are in very good health. We rarely have processed foods, eat whole foods, only take medications if absolutely necessary, and supplement with B12, folate and B vitamins. We take epsom salt baths as well. My husband and I have found B12 shots to be extremely helpful in our energy levels. You can have a doctor order a spectra cell micronutrient test or order one on your own. This will tell you what vitamins you actually are deficient in and can help you decide what supplements are best.

  • Wow! Cool! Thank for the info!

  • Shelle

    It is also very important for those with an MTHFR polymorphism (mutation) either MTHFR 677t or MTHFR 677tt, to avoid enriched foods containing folic acid (Folic acid is the synthetic form of folate that is added to food or used as an ingredient in vitamins) and it cannot be converted in those who have the MTHFR defect and instead and builds up in your system.
    Supplemental and enriched folic acid foods should be avoided by those afflicted with MTHFR C677T mutations because the MTHFR mutation has partially destroyed the MTHFR enzyme which is required to process folic acid completely.

    Natural foods with folate should be consumed by all with MTHFR mutations as food folate helps make other forms of folic acid which are needed for various functions.

    Those with C677T MHTFR mutations do not process folic acid into 5-MTHF.

    If folic acid does not turn into 5-MTHF, folic acid levels build up. Elevated folic acid has potential to stimulate pre-existing cancer cells.

    That said, it is unwise to provide supplemental folic acid to anyone with MTHFR C677T mutations.

    However, what one should understand is there is an already methylated, active form of folic acid available. This is L-5-MTHF and is available via supplement form over the counter and is also available by prescription only.

  • Bb11

    Thank you for writing this article! I am looking for guidance and this helped. When you say you can’t handle processed foods, what exactly happens to let you know this? I am wondering if I change my diet and add in supplements what may actually change. Did a physician help you determine all of this? Thanks again!!

  • www.drsnelling.com

    Not true, Brooke. 23andme.com still offers the same genetic test for $99 (quite a bargain). If you read the statement on their website, they no longer give a health interpretation of the raw genetic data. There are several very good interpretive sites that will provide that service. Genetic Genie, Livewello, and Promethease are just a few.

  • Tanya Gonzales Gumkowski

    Just a suggestion…you can get edible clay…Bentonite Pure White Clay and mix 1 tsp. with water and drink daily. It attracts opposite ionic charge and thus will attract heavy metals and other things we ingest from pesticides. It is very good for daily detoxifying. I just found out I have the MTHFR gene mutation so I don’t know much, but I do know clay is good for detoxifying.

  • Tanya Gonzales Gumkowski

    How will I know if my doctor has prescribed the right thing? I just found out yesterday that I have the mutation but they didn’t say anything about any other numbers so I don’t know all the details that are being discussed here. She just said she was prescribing me a 2mg folate supplement (the nurse). I also have Hashimoto’s disease with an underactive thyroid and reactive hypoglycemia. I am over weight and feeling OVERWHELMED right now.

  • Monica Murray Karafotis

    Look on Facebook for MTHFR groups… lots of ppl sharing info there.

  • Monica Murray Karafotis

    Look on Facebook for MTHFR groups… lots of ppl sharing info there.

  • Healthvillage

    BLOG RESPONSE:
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    What we are trying to do at Livewello is democratize the average person’s access to their Genetic information so that they too can leverage their chances of a higher quality of life.

    Right now, when a user uploads their raw data into the Livewello Gene App, it will give you your Gene report for 600,000 Single Nucleotide Polymorphisms and attaches 12 resources for learning to each Gene.

    The App even offers free updates that reflect your results when 23andMe adds more SNPs to your raw data OR when new research is released about a Gene that affects you. The reason for these features, is that we believe that people should have information for all the Genes in their Raw Data not just some of them. That way, a user and their Heallthcare Practitioner can have the benefit of all this information when creating a treatment or lifestyle plan.

    We also encourage users to arm themselves with vital information that they should share with their Doctors. As such, Livewello is also the only Genetics Application to come with these free tools:

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    https://www.facebook.com/notes/livewello/about-livewellos-gene-app/863565933654629

  • WTF?

    I’m happy to have found this site. I was recently diagnosed with the MTHFR C677T defect. I’m delighted to finally know what has been creating numerous issues I’ve experienced. I’ve started taking Deplin last week and feel better already. However, I’m a little confused about Folic Acid. My doctor’s advice doesn’t seem consistent with what I’m reading elsewhere. He says that I don’t need to avoid it, but multiple sources indicate that it can block L-methylfolate from crossing the blood-brain barrier. The lab results I received said the same thing…that based on my results, “Folate supplementation or higher daily dose of folic acid may be required”.

    Does the confusion stem from the newness of it all?

  • NotOPbutheretohelp

    Not op, but I went to a family practicioner and requested I be tested for the 677 and 1298 polymorphisms. I turned out to be heterozygous for both!

  • Lilac

    Try high-dose methylfolate.

  • Lilac

    For your joint pain, consider getting tested for food sensitivities. My joint pain went away when I avoided foods I’m sensitive to and foods known to be inflammatory. I got the US BioTek food test…my doctor says it’s the best. Cost $280. for 96 foods. Also look up the anti-inflammatory diet. I used to have chronic pain in my finger joints. Now, rarely.

    My doctor told me that only liposomal glutathione is effective.

    I also have “compound heterozygous.” SAMe is expensive, and you can “make” SAMe for less money by taking methyl B12. vitamin B6 (preferably the P-5-P form), and methyl B12.

    I take 15 mgs of methyl B12, or I take 7 mgs sublingually, or I take methyl B12 lozenges 2 mgs. The quatrofolate form of methylfolate does seem more effective to me. Also more effective is taking all supplements sublingually or buchally (held between the gumline and the cheek). You need less of them that way, because they go right into your bloodstream, bypassing the losses accrued during digestion.

  • Lilac

    I wrote that I take 15 mgs of methyl B12, but that is an error. I meant 15 mgs of methylfolate, or 7 mgs. sublingually or 2 mgs sublingually of the quatrefolate form.

  • Jim Hagen

    Thank you! I tested positive within a few weeks back and I have started supplementation. Also I have changed my diet and only buy things that don’t have folic acid added. Sometimes I will get a pizza or a burger like maybe once a week as I am making the adjustment. This is one of the best if not the best and most understandable explanations of the MTHFR mutation that I’ve read so far.

  • F242

    Hi NEN, what diet and supplement protocol helped you? I seem to have similar mutations (homo MTHFR C677T and CBS C699T).

  • ronda dufour

    I just learned I am MTHFR C677T, my nurse practitioner advised taking L-5-MTHF. As soon as I started on this supplement I got extremely bad migraines with vomiting, experienced worsened anxiety and insomnia and started to see “things”, like black forms that looked like people. Not even kidding. I stopped taking it after 1 week of increasing distress. I am now working with a holistic nurse practitioner and am focusing on detoxing the liver and healing my gut. I am confused still about all of this. And of course I have been diagnosed with hypothyroid since late 20’s and recently found out that ALL of my family members also are hypothyroid?

  • F242

    Check out mthfr.net. L-5-MTHF (aka MethylFolate) is great when tolerated, but many people including myself have issues with it.

  • Bernice Caruth

    Here is a link to a video about Methyl Folate from the perspective of a scientist. The video is titled The Truth About Methyl Folate. http://healthtipsfromtheprofessor.com/videos/ I’m merely posting this as information to consider.

  • JodiP

    Hi Tanya, my functional GP told me to stop the bentonite clay while on the protocol for my MTHFR C677T homo. She said it will also prevent proper absorption of my required nutrients (even though she agrees, as you pointed out, that it will help eliminate toxins). My blood tests show high mercury, so I thought it would be a good idea. Back to the drawing board. Having said that my diet has improved the quality of life I “feel”. Someone on here says you feel like you are taking in nutrients. I have to agree with that.
    Good luck everyone on your own journeys.

  • Mandy

    I strongly agree. I have CBS mutation and felt terribly poorly when I juiced broccoli and kale (before I got tested). It took me really, really long to figure it out.

  • Mandy

    I strongly agree. I have CBS mutation and felt terribly poorly when I juiced broccoli and kale (before I got tested). It took me really, really long to figure it out.

  • Mandy

    I strongly agree. I have CBS mutation and felt terribly poorly when I juiced broccoli and kale (before I got tested). It took me really, really long to figure it out.

  • start very slowly or you will feel worse!!!

  • Rachel Reed

    I HAVE A QUESTION FOR THOSE WITH MTHFR CAN FOLATE SUPPLEMENT BE TAKEN IF IT IS A WHOLE FOOD SUPPLEMENT, OR DOES IT HAVE TO BE METHYL FOLATE? AND THE SAME QUESTION FOR B VITAMINS CAN THEY BE B VITAMINS OR B COMPLEX THAT ARE WHOLE FOOD?

  • Ana Rose

    I couldn’t take it either when I was toxic. It has a powerful detoxifying effect which is not good for the body because it suddenly becomes overburdened with freshly dislodged toxins that can’t be effectively eliminated, triggering all of your worst symptoms (in my case, I dealt with mercury that had been stored in my tissues from amalgam fillings). Now that I have spent almost a year devoted to detoxing, I can take 5-MTHF and I feel great. This is true for other important nutrients that used to make me sick (fatigued, achy, fog-brained and spaced out, depressed, etc), like iodine.

  • Ana Rose

    I had the same experience because the brain detoxes first. Emotionally I was better than ever but still hobbling around due to worsened fibromyalgia. It takes a lot longer to recover from joint pain symptoms and hypertension. It helps a great deal to develop a deep breathing practice as a means of detox.

  • dharmatrek

    how much L-5-MTHF were You taking? Starting off with anything more than 250-400MG a day can cause those issues You described.

  • Carrie

    If I have the c677t is it ok to eat a folate rich diet through natural foods? Is it only folic acid , the non natural form I can’t convert?

  • Lacee Jacobs

    Ana Rose, did you start with the metals first. I am curious about your process. I was told I have lead and Mercury as well as the MTHFR issue. Do you have a strong resource or good place to start. I am glad to see you are better! Thanks.

  • Ana Rose

    Hi Lacee, I did start with the metals, thorough detoxing the body effectively looks pretty much the same regardless of the toxin. Among other things, I detoxed through diet (AIP), deep breathing (by far the most powerful intervention), coffee enemas, gradual trace mineral supplementation, and sweating (bought a portable infrared sauna off Amazon). I am totally healed now, healthier and smarter than ever! :)

  • Dave

    Ana where do we learn how to detox?

  • Ana Rose

    I just did an excessive amount of research on it. There is a wealth of information out there. If you just follow the interventions I listed there (you can research each of them individually) you will detox very effectively, I promise!

  • Marie

    Go look at a site called oradix.com I have been through the gammit in a professional way. Very intense and getting rid of lead is very hard. It has a half life of 50 years. You must get the metals out of your body. I was blessed enough to have found one doctor in the US who helped me with this.

  • Val

    I have experienced a BRAIN HEALING miracle, ( Cured of ADD, Migraines Depression)from 2 months of taking Methylfolate, after being diagnosed by my super smart natural path doctor in Oregon, Robyn Kutke, who saw that my red blood cells were “too large”, and suggested I take methylfolate. This simple vitamin change, made all my life time mental and emotional challenges “make sense” including my daughter developing Spina Bifida at age 5. The first month of taking, my AURA migraines stopped getting triggered by bright lights, then I started feeling more emotionally grounded , and confident, as my desire to organize stuff came to the front of my brain. I dont talk out of nervousness , Im able to just be in the moment. I can read people better… I am happy all the time. Note : learning I should also take b12 b6

  • Donald j cook

    not exactly legit….

  • Donald j cook

    i was Dx’d with “Parkinsonianism” in March of this year. (because the Neurologist cannot call it Parkinson’s until one has holes in their brain :( )..my MD –very good MD–decided to have my Homocysteine levels checked…too bloody high….then had me tested for the MTHFR gene mutation. i have the homozygous mutation…the elevated Homocysteine was impacting the Substantial Nigra…in combination with the 14 differing insecticides we bathed in, ate, drank, lived in, on Hickham AFB, it was destroying it. i have been on methylated B-Complex since April, and it has reduced my Homocysteine level by 3 points—that’s beautiful. The homozygous MTHFR mutatation also makes me unable to take most standard pharmacological meds…including those for Parkinson’s (my docs were happy got finally get a causal form my med dysphoria), and begin’s it’s destructive path by not allowing You to have even a moderately functioning Krebs-cycle-the basic cycle that provides energy…it’s a perfect crap storm….can’t fight the Dx…i resist the S&S by every natural/alternative means possible. May we al have Happiness :)