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MEGAN MONDAY: MTHFR – The Silent Health Sabotage?

on September 8, 2014

Mthfr-mutationsMTHFR: The Silent Health Sabotage?

Megan Monday articles are written by Megan Kalocinski, a Certified Nutrition and Health Coach.

I debated for a while about whether or not to post about this topic, for it can get pretty in-depth with understanding the underlying biochemistry to it and the differing forms of this genetic disorder an individual can have.  However, with the more research I conduct on this topic, the more I feel I need to share about this – even if it’s the most basic explanation I can give; my goal here is to raise awareness about this increasingly common genetic condition that many people do not even realize they have, yet it affects so many components to health.  And believe it or not, but three of your beloved MySuperFoods team members are affected by this condition (we are bonded in many ways – friendship, health, and now genetics!).

MTHFR – which stands for “methylenetetrahydrofolate reductase (NAD(P)H)”, is an enzyme that is essential in creating a form of folate (not folic acid!) that the body uses for very important functions. In cases where there is a genetic defect with the gene controlling this enzyme (in fact, there are numerous variations in the genetic defect that affects many people), the problem lies wherein people lack the right enzyme, which can lead to a huge reduction in the body’s ability to produce the proper amounts of folate that the body uses for the methylation cycle.  Are you lost yet?  Stay with me…it’s about to get interesting in a second.

Why should you care if you have this disorder or not? Well, for starters, the methylation cycle controls the body’s ability to detox, produce the correct type and amount of neurotransmitters, and produce the correct amount of energy for the body.  These are all pretty important things.  With a kink in this system, a whole host of health issues can ensue from infertility to heart disease, cancer, and stroke. A simple blood test can yield the answer as to whether or not you have this condition.  While some people with the disorder may not experience any symptoms (they are lucky!) or exhibit any adverse health effects, it is important to know what’s at stake, as most people with the disorder wind up having some complication throughout their life time (if left untreated).  Here is a list of the current health conditions and diseases that are now being linked to the MTHFR genetic disorder (SOURCE: Medline):

  1. Autism
  2. Addictions: smoking, drugs, alcohol
  3. Down’s syndrome
  4. Miscarriages
  5. Pulmonary embolisms
  6. Depression in Post-Menopausal Women
  7. Schizophrenia
  8. Fibromyalgia
  9. Chronic Fatigue Syndrome
  10. Chemical Sensitivity
  11. Parkinson’s
  12. Irritable Bowel Syndrome
  13. Pre-eclampsia
  14. Stroke
  15. Spina bifida
  16. Esophageal Squamous cell carcinoma
  17. Acute Lymphoblastic Leukemia
  18. Vascular Dementia
  19. Bipolar disorder
  20. Colorectal Adenoma
  21. Idiopathic male infertility
  22. Blood clots
  23. Rectal cancer
  24. Meningioma
  25. Glioma
  26. Congenital Heart Defects
  27. Infant depression via epigenetic processes caused by maternal depression
  28. Deficits in childhood cognitive development
  29. Gastric Cancer
  30. Migraines with aura
  31. Low HDL
  32. High homocysteine
  33. Post-menopausal breast cancer
  34. Atherosclerosis
  35. Oral Clefts
  36. Type 1 Diabetes
  37. Epilepsy
  38. Primary Closed Angle Glaucoma
  39. Alzheimer’s
  40. Tetralogy of Fallot
  41. Decreased telomere length
  42. Potential drug toxicities: methotrexate, anti-epileptics
  43. Cervical dysplasia
  44. Increased bone fracture risk in post-menopausal women
  45. Multiple Sclerosis
  46. Essential Hypertension
  47. Differentiated Thyroid Carcinoma
  48. Prostate Cancer
  49. Premature Death
  50. Placental Abruption
  51. Myocardial Infarction(Heart Attack)
  52. Methotrexate Toxicity
  53. Nitrous Oxide Toxicity
  54. Heart Murmurs
  55. Tight Anal Sphincters
  56. Tongue Tie
  57. Midline Defects (many are listed above)
  58. Behcet’s Disease
  59. Ischemic Stroke in Children
  60. Unexplained Neurologic Disease
  61. Asthma
  62. Shortness of Breath
  63. Bladder Cancer
  64. Anecephaly


As you can see from the list above, there are many health issues associated with this condition – many of which are serious.  So why is it that most people have never even heard of such a condition before? 


How I even came to be aware of this foreign-sounding condition was through my son’s pediatrician when we lived in California; the doctor was in collaboration with Stanford University and the most recent and cutting-edge research on Autism and preventative medicine. He and I shared great discussions with each monthly well-baby check-up, and after a few conversations about my own health and ongoing thyroid issues, he asked me if I had ever been tested for the MTHFR genetic mutation.  “MTH-F-wha?!” I asked, with a look on my face as if he were asking if I had some foreign disease.  “No…I haven’t.  What is it?” That is when I received my first education – ever – on something that could have been affecting my health my entire life.  As my doctor prodded more into my family history, he was nodding as if he had just landed the cure for cancer. My father had just passed away from cancer, and I was on my pathway to being uber-vigilant about preventative health – not only for myself, but my entire family and as many loved ones I could impact. After hearing how my teen years were filled with nothing but what I now realize were depressive episodes, mood swings, hormone imbalances, attention issues, anxiety, and weight fluctuations, he explained that he felt there was much more to it than just “teenage hormones.” As I moved into my 20s, I was crippled for years with headaches, stress, insomnia, anxiety, ulcers, digestive issues, more hormone imbalances, mood swings, depression, and thyroid issues.  My doctor at the time ran some basic tests and said I had hypothyroidism, put me on Synthroid, I went on ulcer medications, and PMS medication, in addition to downing about 10-12 Excedrin pills a day for my headaches. I don’t even really remember if I took vitamins and I know for a fact that I did not eat well.  The Synthroid helped a bit, but it was no perfect fix.  I always just felt like something was “off”.  Then I explained how so many family members of mine had thyroid issues, inflammatory issues, heart disease, anxiety and/or depression, hormone imbalances, etc… and that’s when my doctor looked at me and said, “I bet you have MTHFR…and once we know that, then we can treat you.”  With those words, I felt a huge relief, but was then worried about what treatment would entail.  “It’s really nothing short of making sure you eat really well, lots of dark greens, cut out processed foods, get enough rest, exercise, and you’ll take a special form of folate and vitamin B12.”  Since I already had the eating well and exercise down pat, I was a bit baffled that a condition that could yield so much damage was rather easy to treat – by just taking a very absorbable form of folate (not folic acid!) and B12. But my wonderment then turned to anger inside; why wasn’t I ever screened for this before? If so many people have this disorder, why aren’t we regularly screened for it? If it’s rather easy to treat, why isn’t this all over medical journals, publications, in magazines, etc.? I wondered if this had been caught sooner, would I have gone through such a horrid time as a teenager and young adult? What about my family who all paid huge health consequences? I wouldn’t know for sure until the test came back, but it got my mind whizzing.


Sure enough, I went and got the (easy) bloodwork done, my insurance thankfully accepted to pay for it since I had underlying thyroid disease, and the results explained everything to me in several simple letters: I was homozygous C677TT, which is the worst form possible of the genetic disorder.  What that means is basically my entire life, I was walking around with maybe 30% function of my methylation cycle – which controlled detoxing, energy production, neurotransmitter production, etc.  What amazes me is how I was able to become pregnant so easily the first time I tried AND carry my pregnancy to full-term without any issues.  Granted, my son had a rather severely-curved spine as an infant (could it be related?!) which has since corrected itself and a reaction to the vitamin K shot administered at birth (due to the chemical additives combined with the synthetic vitamin K given in a large dose), but otherwise, I consider him my miracle baby (especially since he was born in time for my dad to meet him before my dad died).  I asked my doctor how my body could have overcome this; with the more I learn about the disorder, the more I can thank my diet and lifestyle changes over the past several years.  Despite having the condition, with all of the dark leafy greens I eat on a daily basis, in addition to trying to eliminate as many toxins out of my system as possible, that was my saving grace when I got pregnant, as my body was able to use the folate from the dark leafy greens to compensate for the fact that my body cannot convert folic acid (which is a synthetic form of folate) into the form of folate the body needs.   

Once I found out I had the disorder, I immediately had my son checked (he has a form of the disorder as well, but thanks to better genes from my husband, my son’s form is not as severe as mine). I also then started on the protocol for treating MTHFR – supplementation with 5-MTHF (which is the most active and usable form of folate the body can use; it’s what the body makes out of folic acid when one’s system is working perfectly, without the genetic disorder) and vitamin B-12.  In addition, I have to be very aware of what I eat – dark leafy greens are a must for me, in addition to eliminating all processed foods.  Gluten and dairy are also known to interfere with individuals with this genetic disorder, so while not 100% free of these foods, it’s something I am aiming to work towards soon, as I am interested to see if it makes a difference.  Exercise, stress management, and elimination of as many toxins as possible is critical for once with MTHFR, as all of these things interfere with the body’s ability to function properly since it’s “detox” system is already compromised by not being able to properly methylate to begin with.

While treating this condition for two years now, I am thankful that I found out that I have it, for I feel treatment is rather easy in addition to the healthy changes I made for myself several years ago.  Even though by changing my diet and lifestyle several years ago made a huge impact in the way I felt, I still had that underlying feeling of “eh” every so often – whether it was lack of energy, mood swings, insomnia, etc… there was something here or there that would pop up and it nagged me to no end that I still could not get to the root of it…until now.  Since treating my condition with 5-MTHF (a B vitamin and the most bio-active form of folate that the body uses [did you know there are 150 versions of folate?]; it’s what the body creates if it’s able to effectively convert folic acid into the end-product of 5-MTHF) and vitamin B-12 (methylcobalamin, to be exact, as there are different forms of B-12), I can honestly say I feel so much better.  My mind functions better, I feel less mood swings (although my husband would probably laugh at that one, especially after having baby #2), my energy levels are better, and (knock on wood), I am rarely, if ever sick (despite being exposed to EVERYTHING).  My blood work has also come back much better the past two years as well; my nutrient markers look great, my homocysteine levels are low (levels of this in your blood indicate inflammation and damage to your cells), my hormones and thyroid are regulated the most they have been in years, and any health issue I was experiencing in the past seems to be a fleeting memory now. 

I look back to all of the health issues that have run in my family and I wonder if my family members who have been sick and even died (my dad being one of them) had been tested and treated for this condition, if they would have had a different health outcome?  Now, I must say that lifestyle habits and diet play a HUGE role in how this genetic condition rears its ugly head, too – the better you take care of yourself, the less it will affect you.  But it makes me mad that more people are not being tested for this.  In fact, I wanted my mother to be tested, for I know for a fact (genetics 101) that she has some form of the condition, as she passed it on to me, but I want to know to which extent; armed with the knowledge for her doctor that I have this condition AND she’s also a heart patient (MTHFR is known to have a direct correlation with heart disease and stroke), her doctor wouldn’t screen her.  Angered, I wanted an answer as to why.  Simply stated, he didn’t know enough about the condition to know how to treat her once her results came back and he didn’t want it to be a medical liability. This is not the first time I have heard this be an issue; numerous friends and family members have been turned down for the bloodwork because their doctors were not sure what to do with the results. This concerns me. While I have great respect for doctors and medicine, I am baffled as to why doctors are not educated on this more, especially since this is a condition that: 1) is relatively easy to treat (but not with pharma meds, which could be a big piece of the puzzle) 2) affects a rather large percent of the population (it is estimated that 40% of individuals have some form of the mutation) and 3) this genetic condition affects SO. MANY. HEALTH. ISSUES!!!  Armed with the knowledge I do about myself and my sons, I have been able to rest easier knowing I am treating my sons’ MTHFR from birth, and I will educate them and make sure they are well-treated while living under my roof. This is a lifetime thing that needs to be cared for.

I honestly could go on and on about this topic, but I wanted to just scratch the surface, for I am heavily researching it now so I can better help myself, my family, and my clients.  It’s really something I feel compelled to get out there and educate people on.  A great source for knowledge and info is – Dr. Ben Lynch is an expert in this area and has so many explanations to this condition, in addition to resources where you can get your blood tested outside of insurance, what to ask your doctor, what to supplement with, etc.  I highly encourage you to check out his site for further info if you are curious about this. It’s worth a shot asking your doctor for the blood test as well; many times, if there is a history of heart disease, cancer, reproductive issues, miscarriage, thyroid issues, etc., that is enough for a baseline diagnosis for insurance to pay for the test (I would think insurance companies would encourage this, for if someone knows they have this condition, they can treat it rather cheaply and help avoid all of the potential costly and drastic health complications down the road….). 

Do any of you have the condition that you know of?  If so, please share below and as always, feel free to ask me with any questions, as I am super passionate about this topic.

Megan Monday articles are written by Megan Kalocinski, a Certified Holistic Nutrition and Health Coach and Owner/Founder of Empower Nutrition & Health Coaching, LLC. Megan educates and empowers women, men, and children of all ages to learn the true ins-and-outs of “feeding the brain with knowledge about the best foods, products, and habits for one’s body” in order to reach optimal health and wellness potentials. Visit her website today to learn more: or feel free to send her an e-mail Follow Megan on Twitter (@MPowerNutrition) and like her onFacebook: Empower Nutrition & Health Coaching, LLC.


4 responses to “MEGAN MONDAY: MTHFR – The Silent Health Sabotage?

  1. Suzanne says:

    Hi Megan I am heterozygous for both 677 and 1298. I tried taking the 5-MTHF but react so starting out slow. It is a fascinating area of study and as you say so easy to treat. Like you, in my early twenties I had a good diet so thankfully had no trouble with pregnancy but I understand a whole lot more about my body’s reactions. I have had my genetic profile done as I am a Fitgenes practitioner and find that understanding the MTHFR and it’s interaction with other genes and SNPs I have fascinating. Thanks for reinforcing the importance of knowing as much as we can about our bodies. Suzanne

  2. Jessica Bennett says:

    I have exactly what you have! I have known for several years but was never given any info past don’t ever get pregnant again. I did do some research but there just wasn’t a kit out there. I am just now learning all of this stuff! I had multiple bilateral PE after a routine surgery where blood thinners weren’t used. It wasn’t until a year after extremely high doses Coumadin and weekly blood test because my body would never process it like they thought it should that I just have up. Finally, a hematologist testede for mthfr. I have double mutation with hyperhomocystenima. I am feeling extremely overwhelmed with all of the new info and changes I need to make! Needless to say I am not the healthiest person but that’s changing ASAP. I currently don’t take any meds and am
    Basically a ticking time bomb!

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