MTHFR Gene Mutation: Is gluten really the only problem? Could the toxic form of folic acid they add to our wheat in Australia be a problem also?

(Blog for October 2014) MTHFR By Janella Purcell

Sometimes life throws a curveball at you, sometimes when you’re least expecting it. I wonder if this happens because subconsciously we were asking for an excuse to change something in our lives that isn’t working for us, or to look at something we’ve buried deep. The struggle can’t be for nothing, can it? The curveball can come in the form being of getting retrenched from your job, discovering your partner has been having an affair, someone close to you betrays you, or you or someone you love is sick. In my case it was the discovery of a gene mutation known as MTHFR, and at least 40-60% of us have it.

[private]I find it impossible not to be philosophical about the events that take place in my life. Why is it happening? What is the lesson I’m meant to be learning? Is there something in my diet, exercise routine or lifestyle that is causing this imbalance, or is it all emotionally based and I’ve ignored the subtle warning signs, so that now it has found its way into the physical body?

In September last year (2013) I had a miscarriage at 6 weeks. Naturally I was devastated and went into full grief and sadness. This lasted months and my hormones didn’t settle for a long time. This is when my MTHFR journey began. Instead of my body and mind returning to its normal healthy self, I was getting worse daily. I was gaining weight, my digestion was seriously bad, my hair was thinning and I was sooooo emotional. Not pretty, for anyone involved. I couldn’t get my equilibrium back, and no amount of herbs, supplements, massage, fasting, smoothies, healing sessions or juices touched the sides. I even did my usual 10 days in Bali on a fasting/meditation retreat in January this year, then the 5 days in Austria in September in order to try to get some relief from the symptoms. Or even to find someone who could shine some light on this mystery called my body and why it was having a tantrum. Nothing!

I had many blood tests and ultrasounds – everything was clear. So why on earth was I sooooo sick, emotional and fat? I could hardly move at times due to overwhelming fatigue and seriously I could eat nothing without being in intolerable pain. Consequently I had a mouthful here and there. Clearly something was very wrong. Plus, I was blowing up like Violet Beauregard in ‘Charlie and the Chocolate Factory’, after she ate the blueberry candy. Remember? Mr Wonka had to get the Oompa Lumpa’s to take her to the ‘sqeezing’ room. Just call me Violet. That’s exactly how I felt. Like an over-ripe blueberry.

Regarding digestion – I couldn’t swallow anything. Not even water would go down without a fight. It was getting stuck in my oesophagus for hours and the pain was past intense. This would then cause reflux (unheard of before this period) and then dramatic pain in my stomach, liver, colon – everywhere over my torso, and it moved around. I had colonoscopy and endoscopy in June, and a ‘barium swallow test’ in March – and what a revolting experience that is. This where you drink disgusting liquid that looks and feels like white paint and tastes like toxic flavouring. They X-ray you (a nice hit of radiation) as the toxic paint goes down your oesphagus. Next, you chew a marshmallow just once, then swallow it. OMG! I was outraged at having to be doing this, and in a hospital! Yuck! Resentful! Sad! Teary! Of course this only makes things worse. In fact what I needed to be doing was to surrender. In between tears of self- pity I was trying to do this, and sometimes I achieved it.

So after getting the all clear from western medicine diagnostics – just to make sure I wasn’t dying of some nasty disease, I intensified my own research. My blood results showed that my iron was way below the lower level of low, as was my zinc, B6 and B12. Why? I had my bloods taken 12 months earlier, pre-natally. All was perfect, everything, as it always had been. What was causing this? It couldn’t be my diet. And then I found a possibility. Maybe I had the MTFHR mutation. I knew very little about this but this was my last hope. So I ordered the tests through a friend who is a GP, (no Medicare for this yet) and at the same time I had myself tested for Pyrroluria. (See link at the end of this Blog) I tested positive to both, although my pyrrole levels were only just above normal they probably weren’t causing me too much grief. So now I knew what was wrong I had to find out what it meant, and how to treat MTHFR, naturally.

I’m going to give you a very brief rundown on this as it is mighty complex and overwhelming. (I am starting the e-course with the leading MTHFR specialist in the States soon, and I’m guessing my next book will be about this.)

Around 40-60% of us have this condition, so it’s not uncommon. (Anything over 5% is considered significant.) Shouldn’t we all be getting tested? The thing is if you have this gene mutation then taking folic acid in a supplement is like swallowing poison. Folic acid is a synthetic form of folate (the good stuff in green leafy vegetables), and is added to many of today’s foods, and most all multi-vitamins. And btw, wheat in Australia has been fortified with folic acid (and iodised salt) since 2009, unless it’s organic.

So maybe gluten isn’t the only bad guy. I know that I can digest spelt but not wheat. I was muscle tested at the health clinic I visited in Austria in September for this, and yes I can tolerate spelt, which contains gluten, but I can’t tolerate wheat.) The plot was thickening, and my head was going crazy with the possibility of what all this meant to the decreasing health of our society. No wonder there is so much illness around – both mental and physical.

Naturally I was taking folic acid pre-natally, and then throughout the pregnancy and continued to do so for months after the miscarriage. According to the research available to us so far, taking a folic acid supplement (or an iron or pre-natal supplement with folic acid in it) when you have this gene mutation – can and does cause miscarriage. And do you think I can find ONE pre-natal or iron supplement in Australia that doesn’t contain folic acid? (I have now found one through the website iherb that I give my patients, and take myself. It’s made by ‘Thorne’). Since MTHFR patients are defective in the conversion process from folic acid to methylfolate, they should be given pure methylfolate, which is the already converted and usable form they are deficient in. This way the defect is “by-passed”.

Basically what this is about is ‘methylation’ and your liver. Your major organ of detoxification – your liver – can’t do its job properly, so you are like one big waste disposal. Sigh! Your liver has a very hard time doing its job. It also will make you ‘estrogen dominant’ – hello endometriosis, weight gain, intense emotions – me. Other symptoms include – food intolerance, behavioural issues, heart disease, mental illness, body aches, and so, so much more. See for more info on symptoms.

The Methylation Cycle is the major biochemical pathway in our bodies that contributes to a wide range of crucial body functions, such as detoxification, immune function, mood balancing, and more. If one pathway is hindered, such as in the case of MTHFR mutations, other pathways, which are reliant on it, will also be hindered. This will end up causing a ‘hindered ripple effect throughout the entire body, and many of its processes, resulting in a myriad of chronic diseases.

Two of the main concerns of the MTHFR mutation are –

  1. This mutation inhibits the body’s ability to ‘methylate’. This means converting folic acid into Methylfolate. Methylfolate is the active and usable form of folic acid, and if the body is not getting enough of this usable folate at the cell level, a dangerous cycle begins and leads to deficiencies and a multitude of health issues.
  1. Our ability to detoxify is extremely hindered. Everyday toxins are coming in, and in a normal healthy individual, toxins are also going out. In other words, continual re-toxing and de-toxing. But when you have a MTHFR mutation, toxins get trapped, and will continue to build up over the years.

So after 3 months of being on the wrong supplements and my symptoms worsening, I am now on the right path. It has been difficult to find a practitioner who specialises in MTHFR, and when you do find one they often don’t take on any more patients, plus they were all a bit strictly clinical for my liking. I have now found a wonderful specialist to guide me through this process, and we are working through this together to create the best protocol for me, and my own individual symptoms.

My new supplements arrived on my birthday last week (BEST birthday present) and it usually takes between 6-12 weeks before you can expect to feel any improvement. Being the sensitive miss I am, after 2 days I started to see the light! I guess my body was just sucking it all up.

Now I am contemplative, looking back on my life and seeing that ‘I’ can be explained by my genes, and my environment. I’ve obviously always had this gene but I’ve been pretty healthy due to my diet and lifestyle. I’ve now been pushed over the edge most likely due to the folic acid supplement, the extra nutritional needs of pregnancy, plus the deep grief surrounding the miscarriage. It’s all starting to make sense now.

I have had an extraordinarily busy year with writing and publishing my new book, then styling and shooting it at my place in 5 days. I’ve also done an Australian tour with my Workshops, serviced both my practices, plus my regular writing assignments, social media’s and a business to run. I love it all. Having the miscarriage knocked me for a 6 emotionally, and the stress of this just made everything so much worse. But you know what, this curveball is probably going to save my life. Finally, I am being forced to slow down. I have to now.

I am now on a mission, after my supplements kick in properly that is. So many of my clients and others of you also have this gene mutation, and don’t know it – and suffering unnecessarily. This truly feels like my next calling – to help get information about this gene mutation out there, testing easier and cheaper and the treatment simpler and widely available to all.

America is way ahead of us on this. In Australia, almost every doctor and fertility specialist I have spoken to about MTHFR (I’m kinda obsessed) knows a little to nothing about it. My theory is because it’s such a complex condition, and until recently there has been no or limited education offered to MDs, so mostly they don’t want to touch it. Plus, there is no drug yet to treat it, so what would they do with it anyway? No doubt there will soon be a patented drug as more and more people are being diagnosed positive all the time. Wed don’t need a drug, we need more practitioners experienced in treating MTHFR naturally, using with the right supplementation for each person.

When I suggest to fertility clinics they could perhaps test their patients for this gene mutation before they put them on a supplement containing folic acid – they respond with it’s not their responsibility to do so. The women apparently should be tested before they come to them for IVF, IUI (intra-uterine insemination) or even planning a natural pregnancy. I am horrified by this of course. How many people trying for a baby (or otherwise) have even heard of MTHFR?

I have been thinking about whether or not to go public with this, but I feel this particular curveball has been thrown to me for a reason. I will get through this and then know how to treat it properly prescribing the right natural supplements for each person’s individual symptoms. Perhaps I’ll study genetics in the future, as my curiosity pertaining to the human genome has now increased, 10 fold.

My check list –

    1. Continuing eating and living a healthy, natural, and non-toxic life.
    2. Meditate twice a day.
    3. Continue to take high doses of zinc, B12, iron, methylfolate, Co Q10 and my herbal formula for my liver and hormone balance.
    4. Make sure I’m getting loads of natural folate in my diet – leafy greens, legumes/lentils, citrus, etc
    5. Avoiding the synthetic form of folic acid in supplements and fortified foods, and instead, use supplements with the methylfolate and methylcobalamin (B12).
    6. Continue to avoid dairy and wheat products. There has been speculation that there is a correlation between mutations on the C677T gene and intolerances to these two foods.
    7. Sweat as much as possible. Sweating is one of the best natural way’s to expel toxins from the body. (Sauna, exercise.)
    8. Continue juicing a few times every week, if not daily. This is great for both folate and detoxification.

There is just so much we don’t know about the human body still, and the more we do learn, the more we realise how much we don’t know. What an amazing thing this is.

As always, in love and continued Wellbeing for us all,

For more info’ from experts in this field – Dr. Neil Rawlins, Dr. Ben Lynch, Dr. Amy Yasko, Dr. Katherine Erlich,

More info on Pyrroluria –

More on MTHFR –






Showing 4 comments
  • Rachel

    I have MTHFR. I was sick for months and lost a ton of weight and none of the doctors and specialists that I went to could figure out why. Eventually one doctor tested for MTHFR and found that I have it. Even after taking methylfolate for a couple of months I was still not getting better and again the doctors were just lost. I eventually found a doctor who tested for heavy metals and found that I had uranium poisoning!!

    There are so many people who have MTHFR. It’s crazy that doctors don’t know more about it!

  • Jen smoke

    after four miscarriages I found out that I have one copy of the C677t. Now in retrospect I realize I was taking folic acid during that time because I was told to. Although I found an OB who knew to put me on 40 mg of Lovenox a low-dose blood thinner with the theory that I was throwing blood clots to the placenta (mthfr!) that protocol with a baby aspirin as they are two different anticoagulants, has given me three healthy girls. Please share! They are saying that after one miscarriage women should be getting tested for Mthfr. I know this is an old post but if I could just help one person carry to term it’s worth it.

  • RJ

    What did you do to help your liver and your swallowing issue? Was the swallowing issue somehow related to MTHFR? Did you find the exact cause for that thru the swallow study? My son has MTHFR. He has autism as well. We are supposed to do a swallow study but I am afraid of giving him barium!!

  • Linda erickson

    Have u read that mthfr is common in people of finnish ancestry? My grandson and dtr have one of the 2 genes.

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