What being diagnosed with a MTHFR mutation taught me about my health

July 7, 2022

There were times when my health was wonderful, sure , but heck, back then I thought bloating and constipation, raging PMS and monthly blind cystic pimples were normal ( you know the painful ones that usually come up around the jawline that you really want to pop , but if you try they grow ten times bigger, throb indignantly and yet still stingily withhold juice?)  Looking back, somehow I believed feeling these and other discomforts in my body was an unavoidable part of being human, a life sentence for a sack of blood and flesh, trifles bound to get worse with each silver hair. After all, my grandma used to take an entire handful of pharmaceutical pills every day: one for her condition, the others to counteract all the side effects. Watching her swallow her synthetic medicine one by one with her morning coffee, I wondered if this steadily increasing medicalisation of the ageing population came in tandem with a natural progression of their deepening frailty.  Why have we been primed to believe uncomfortable, ongoing symptoms are somehow just an unlucky roll of the genetic dice or an inescapable sentence that comes hand in hand with the experience of having a physical body? 

Listen, I too was there once; a little pain killer for my painful periods here, a little laxative to move things along there, rare Valium for my anxiety, multiple rounds of antibiotics for my bladder infections  - hey it’s all normal right? My doctor certainly thought there was nothing to worry about, besides, I lived in America at the time and pharma sponsored TV ads told me everyone had my symptoms and a cure for most health afflictions already existed on the market. Ok, so sometimes, it wasn’t really a cure but temporary management of symptoms that let me power on with my life but who looks at the proverbial gift horse in the mouth ammiright? 

My blind faith in the Western medical system chugged along fine until my boyfriend at the time contracted a skin disease that a doctor prescribed Roaccutane for. Reading the pamphlet within the box got me concerned: the afflictions almost certain to arise through the use of this medicine seemed to me worse than the actual disease. Once freaky reactions took hold, he excused them as something he had to suffer through in order to get rid of this sickness and yet he kept up the exact same lifestyle he had before: an unhealthy diet of sporadic acidic foods, lots of alcohol, smoking and party times. Something inside me began questioning the status quo- was my boyfriend’s skin condition a sign of his body’s struggle to detoxify? Was he simply not acknowledging his body’s cries for change and nutrients? What made him unwilling to hear his symptoms and decide to fundamentally change the way he lived his life ? 

In the end, this point of contention became a major part of why we broke up - where I had begun to question the established view around health and wellness, he was unwilling to acknowledge lifestyle played a major role or God forbid, take personal responsibility for how his body felt day to day.  After blindly “following science” on the purported benefits of the low fat diet began to adversely affect my hormones, I delved into alternate avenues of information because it seemed to me “experts” I had trusted had got it all wrong. 

Still, 15 years or so later, when I separated from the father of my child, a man who introduced me to organics and natural medicine as de facto, I was baffled when my health started falling apart in a major way. After all, I ate better than I ever did in my life - clean, organic ingredients with no pesticides, herbs for illnesses and my usual handful of vitamins and yet, my health just kept going south. First, my life long constipation issues grew into full blown Crohn’s symptoms-  bleeding and fever, menstruation changes, ongoing pain, cramping and weight loss. Then, that rare visitor called eczema settled into a near permanent fixture, a seeping wound that just wouldn’t heal. Insomnia, depression and anxiety barged in through the front door, making themselves at home, whilst my energy levels dropped hundredfolds. To add insult to injury, adrenal glands and thyroid now showed signs of depletion and struggle in my bloodwork. Oh -oh! What was going on? For some reason, it seemed hard to get on top of my health this time around, no matter what I did . I even went to get an allergy prick test to see if perhaps I had begun to develop some sort of severe reaction to foods: apart from showing a sensitivity to eggs, dairy and sulphur there was nothing.  

A couple of months later, a routine PAP smear showed a level three cervical dysplasia and the gynaecologist’s office began calling me to set up an operation to burn the abnormal cells off.  Multiple voicemails ramped up my fears : “ Hello Tanja, have you got the results of your test as yet? The doctor needs to speak to you urgently. It shows a concerning change to your cells due to the HPV virus. We need to operate ASAP before this worsens- are you aware this is likely to progress into cancer unless you take action now?”. 

There it was - cancer, the one word everyone feared because no one could yet explain the reasoning behind why some of our cells inexplicably went rogue and turned into our killers. “Cancer, mama! They’re saying cancer is possible! ”- I broke down on the phone to my mum: “ what the heck is going on with my health, I just cannot seem to get on top of it?” - I sobbed, scheduling surgery as a matter of urgency, praying they would scrape away all those damned defective cells on a rampage to destroy me. The surgery was a success - my doctor showed me imagery of my cervix live via her nifty little camera before and after the operation. I rejoiced in the existence of modern medicine - after all, it could stop the progression of disease into cancer - and who could deny this was a miraculous thing? 

Whilst I celebrated this win, I met a man who seemed like heaven on a stick and we immediately began a torrid romance. It really started to look as if everything was now finally heading for the better after a year of loneliness and a round of mysterious health problems. However, a six month follow up with my gynaecologist, right after my new amour started showing concerning behavioural red flags I refused to acknowledge, showed my dysplasia was back at level 3 and naturally, doctor advised me to schedule another operation . The voicemails and emails returned too, reigniting panic. Yet, this time, even though I wanted this threat gone, mutilating my cervix again with ongoing surgery that didn’t resolve the issue seemed too extreme and counterproductive. 

Surely, there was something I’d missed causing all these problems? From everything I’d learnt about health through independent research in the last two decades, I’d deduced the body is supremely intelligent . Once I began observing my health, it seemed to me that when I did have dis-ease present, it was due to not providing my flesh suit with the right circumstances or ingredients to thrive and return to an optimum expression of health. Perhaps there was something preventing me from healing, but I just didn’t yet know what?

The interesting part of learning to read medical papers was how much good information can be found in independent medical studies - this time I found folate deficiency implicated in abnormal cell replication on the cervix over and over and over again. You see, it seems this part of the female body is also called the point of creation, where cells replicate fastest,  hence this is the place that will show the lack of folate quickest as it is so needed for healthy cell division. Was this true? Was I just missing folate? And if I were , why the heck am I now all of a sudden so  depleted of it, when I had been trying to eat so well ? Delving further into medical studies pointed at the MTHFR gene mutation as the likely culprit for my condition- a very common affliction which 1 in 2 people carry to various extents of severity. 

What is a MTHFR mutation?

Methylenetetrahydrofolate reductase (MTHFR), is an enzyme that works as a catalyst for important biochemical reactions in our body. It converts vitamin B9 (folate) into methyl-folate which is essential for a process called methylation.

Every single cell and tissue in our body experiences methylation, which protects our body by optimizing DNA cell function and repairing damaged cells. By metabolising B vitamins and processing hormones and toxic substances as well as neurotransmitters such as dopamine, seratonin and norepinephrine, this function controls our mood, behavior, sleep, and overall mental health.

If this was the case, and I did indeed have this, then a likely framework emerged: gluten and other goodies I was eating were impairing my methylation and causing inflammation, robbing me of necessary folate. Everything was relatively ok before because my body wasn’t under as much emotional stress which further pilfered essential nutrients, skewing my cells into an over expression of the gene defect under a process of epigenetics.

Ok, this was it,  I was booking a blood test tomorrow. I needed to find out what was going on with my body and if I could avoid another surgery. 

Baffled, the doctor nearly laughed me out of his office: “Is this some newfangled thing, some holistic spiritual healer numpty  told you about? I’ve never heard of this, we don’t do this test”- he let out a hearty chuckle as I sat next to him tapping my foot: “Ok, but would you have a look into the computer and just check please? Since, I made it all this way, may as well”. He sighed exasperated but did check and lo and behold, the diagnostic clinic did indeed provide the test for the MTHFR mutation. “Well, I’ll be damned - I swear they come out with new things every day” - he scratched his head- “hard to keep up sometimes”.

Following week, I picked up my results finding I did indeed have the MTHFR mutation on both alleles of the gene but my doctor still didn’t have any idea what to advise me: “Er, so it says here you do have this” - he fumbled with his glasses looking at the printout, then turned to the clunky, outdated office computer and typed MTHFR in the search bar : “ I believe it is a problem on the methylation pathway”, he said after beginning to read the top entry… “ …It’s ok doc, I know “ -  I interjected-  “I got this, I just wanted to know if this was a possible factor for me”.  When I got home, I began reading out all the illnesses possible due to impaired methylation: dear reader,  it was like I was counting my family tree’s entire health history; homocysteinemia, a term for abnormally high levels of homocysteine in the blood or urine, ataxia, a neurological condition that affects coordination , peripheral neuropathy, a neurological condition that damages the nerves , anemia, which means that there is a lack of healthy red blood cells in the body , cardiovascular diseases, such as blood clots, stroke, and heart attack ,mental health conditions, such as depression ( which I had long battled ), behavioural disorders, such as attention deficit hyperactivity disorder ( which gave me my at times insane hyper focus obsessions) as well as a plethora of cancers including; lo and behold cervical cancer. 

Even though I’d previously believed my livin’ was already pretty clean, after reading up on the MTHFR diet, I had to admit my cheat food items weren’t clean enough by far : out went all gluten and most dairy, seed oils, synthetic foods, colours, preservatives and processed sugars - anything that may be causing my body’s impaired methylation to worsen, fuelling the inflammatory super storm driving autoimmunity issues.  Where I used to take a handful of vitamins every day, I had now pared them down to just a methylated version of folate and Bs, glutathione, magnesium plus  a spoonful of bee pollen , medicinal mushrooms and loads of citrus fruits, avoiding any unnecessary man made products. I became more stringent about only drinking filtered water, exercising for at least half an hour per day, avoiding heavy metals in anything ( it’s extremely hard to detox heavy metals from the body if you have this mutation but zeolite can help ), removing my toxic amalgam fillings and making sure I spent a lot of time in the sunshine, meditating in nature. I also had to say goodbye to my wine binges on the weekend dand restaurant dessert treats until I got this situation under control.

A few months later, on a holiday to Croatia, I realised I missed the appointment with my gynaecologist to set up the operation yet couldn’t relax for fear of cancer so I booked a PAP smear at a local clinic. Only 4 months after I had cleaned up my diet and supplemented with folate, my results came back clear. Even better, over the following months other inflammatory autoimmune issues slowly begun to reverse ; I no longer had symptoms of Crohn’s or eczema and my depression reduced by 90%. But the real magic happened after I broke up with the abusive guy I was seeing and no longer had constant emotional drama draining me of nutrients, nowadays, most of the time I don’t even know when my period is coming anymore because the debilitating symptoms I used to experience aren’t there and neither are the cystic pimples. 

Listen, I am no doctor and this isn't medical advice but getting tested for MTHFR changed the course of my life. At age 42, I am the healthiest I have ever been - even seasonal colds and flus seem to have dramatically reduced in frequency and my skin has never been this consistently clear. These days I no longer take vitamins every day because I watch my diet carefully to include cruciferous vegetables and lots of greens, free range chicken livers, avocado, black beans ,bee pollen and other foods high in the nutrient I so need . I also quit smoking tobacco, which is a major folate thief and replaced it with smoking chamomile and mint (yes, this is a thing and it’s very much methol cigarette-esque!) 

Sometimes, I still cheat; a croissant in Paris, a pasta in Rome, a pretzel at 10 William street - gluten is always going to be my Achilles heel, but these days I know better than to risk making these a regular occurrence or I know my old chin friends will be the first to pop up again and say hi followed by all the other unwelcome visitors. The body gives us little signals first, quietly whispering its needs into our ear but if we disregard the signs, it shouts louder and louder until its rage at being unheard becomes an inflammatory storm difficult to quell.  Patience, consistency, good will and curiosity are beneficial in any relationship - have we just forgotten how to honour the most important relationship of all, the one with ourselves? 

3 comments on “What being diagnosed with a MTHFR mutation taught me about my health”

  1. I have this! A mutation from both parents. I struggled a lot with health despite feeling I was doing everything right. I take liposomal methyl vitamin B’s. Not everyday now but when I need it. I also benefited from high dose B1 for chronic fatigue. I am a broken record for talking about B vitamins as it was truly life changing. Great to get this out there as I have actually managed to change a few people’s lives by talking about it.

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