What in the MTHFR?

It’s my first blog post in a while; first of 2019. To be honest, I had “bloggers block” for quite some time (if that’s even a thing). I wanted to focus more of my future posts on health and mental health for 2019, so I took too good old Instagram to ask if people wanted to know more about a little thing called MTHFR. 94% said “sure”… so here we are.

Let’s start with a little glossary first as this topic may get a little heavy with medical jargon.

MTHFR – methylenetetrahydrofolate reductase; a rate-limiting enzyme in the methyl cycle, this is encoded by the MTHFR gene.

Homocysteine – amino acid produced when proteins are broken down.

Heterozygous – having ONE variant of a mutation on a gene. (1 copy of the gene from either parent)

Homozygous – having TWO variants of a mutation on a gene. (1 copy of the gene from each parent)

There are two variants (forms) of mutations that can occur on the MTHFR gene. The two options are known as:

MTHFR C677T Heterozygous = 40% loss of function
MTHFR C677T Homozygous = 70% loss of function

MTHFR A1298C Heterozygous = 20% loss of function (research not known)
MTHFR A1298C Homozygous = 40% loss of function

MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function *It’s also possible to acquire both C677T and A1298C mutations (one copy of each).

Ok, so let’s begin with how I discovered that I was homozygous for MTHFR C677T gene mutation. Thanks, MUM… and DAD! Turns out both my parents passed on a genetic mutation of this gene… and it turns out that this “mutation” may come with its own manual on health issues, with a whopping 70% loss of function of the gene!

My OBGYN discovered this when she decided to run a panel of genetic tests on my placenta after I gave birth to Isaac, whom I delivered via emergency c-section due to an antepartum haemorrhage. Basically, she wanted to know what caused the bleeding, so she did what any sensible doctor whom you’re paying an arm and a leg for through your private health insurance does, and she ran tests!

My tests came back as I mentioned earlier, all was good apart from this little thing called MTHFR. Of course, I did what any person who received their test results did, I went straight to dr Google and searched what MTHFR mutations mean! (N.b I don’t endorse Using Dr Google as a reliable source). So it turns out that the biggest concern for people with MTHFR gene mutations is the links to cardiovascular disease. In pregnancy-related news; it also meant that I was potentially more prone to miscarriages (which makes sense considering the two I experienced before Isaac was born) and indicated that my body does not metabolize folic acid the way an average person would metabolize folic acid, so basically those folic acid prenatal supplements weren’t actually working for me.

It’s the real Folate or nothing, no synthetic stuff here thanks.

Anyway, this was all good and well… my OB recommended I stay on a methylfolate and a B12 supplement for future pregnancies and that was that.

Until I started delving further into the implications, this little mutation has on my heart. You see, I have a pinch of hypochondria and a whole lot of anxiety when it comes to health, so as soon as Dr Google highlighted the cardiovascular risks, my heart was racing (mind the pun). My maternal grandfather died of a sudden heart attack (Bog da mu prosti), and only 10 years ago my father underwent a quadruple heart bypass surgery… was this enough proof I needed? Is my heart a ticking time bomb?

Well, there’s an old saying, “genetics are a loaded gun, and environment pulls the trigger”. Before I allowed myself to spit into a 23nMe test tube and await a health panel on what other fun diseases I could be genetically predisposed too, I sat long and hard and thought about this 70% chance increase in cardiovascular disease. And I thought about that little saying, and it got me thinking about nature and nurture.

For a genetic mutation to have any effect that the gene needs to be expressed, and what expresses that gene better than one’s environment. Diet, lifestyle what we expose our body and essentially our genes too. I gave myself no credit at all when I thought about the fact that I no longer smoke, and no longer drink alcohol, that I exercise regularly and I eat healthy and wholesome food. Admittedly I didn’t need to worry that much about dropping dead of a heart attack right, even though my father underwent a quadruple heart by-pass at 60, and my maternal grandfather died from a heart attack at 59?

In the meantime, I’ve taken my doctors advice and stayed on B6,9 & 12, and if I do decide on any future pregnancies, I take methylfolate and NOT folic acid. I undergo a heart health check with a cardiologist once a year, (this is a post for another time), and I continue to put health, (mental health) and wellbeing at the forefront of my life through regular exercise and eating right, (and no more Dr Google)!


Loss is loss

Just because you didn’t hold it, or see it, or feel it, doesn’t mean you didn’t lose it. In fact you did hold it; you held it when you first saw that line turn blue, and you held your hand to your stomach with anticipation and joy. You did see it, when they imaged your belly and showed the tiny little sac forming deep in your womb. And you did feel it, you felt every single cramp and ache as your body started to rid itself of what it could no longer nourish.

Loss is loss.
When I think back to the time I miscarried I can’t help but wish there were more people around in my life to have shared in the grief with me. More people to tell me that it was ok to feel sad, that it was ok to cry, and feel hopeless. I wish there were more people around to explain why I felt so much shame at the time? Why would anyone feel shame about such a thing? I wish there was a way somehow to tear down all that stigma and cultural rubbish, that voice in the back of my head saying, “don’t tell anybody what’s happened”.

But why! Why on earth couldn’t I tell anybody of the news that gave my entire existence so much joy, was no longer a joy I could imagine. Why couldn’t I share my excitement of potentially becoming a mother for the first time even for those short weeks, only to have the dream end before it even began? Why couldn’t I grieve or mourn the loss of the baby that could have been; the older sibling of my Isaac and my Laila? Why couldn’t I share the fear that I had that my biology couldn’t nourish and sustain life past the 10 week mark?

I remember when I told my husband about our second miscarriage he was time zones away, sitting on a mountain in the desert begging God for forgiveness and a healthy, happy baby. I phoned him on the day of Arafat and told him that our precious gift had no heart beat and stopped growing at 10weeks gestation. That night I swear I dreamt I heard him weeping on top of that mountain. Not for the baby that we never held or saw or felt, but for me.

Loss is loss.
Miscarriage is loss. I didn’t want to hear about “maybe it wasn’t meant to be”, or “perhaps it’s for the best”, “perhaps the baby would have been sick” and “the body knows when something isn’t right.” These gave my heart no reprieve. What I wanted was to grieve, to cry and miss my baby, even if my baby was just an idea, a line on a stick or a blur on a screen, I wanted to mourn, and I wanted that to be ok.
Bears of Hope


The Black Dog 
This post was hard, very hard but it was necessary.

It’s about as real and open as it gets for me. I trust you’ll tread lightly on the words.

Do I start with describing my first panic attack, or do I start with when I was officially diagnosed  by a doctor?- ‘FINALLY!’ I thought, my affliction had a name!


They don’t sound too pleasant do they? Statistics continue to grow and currently according to WHO 350 million people are suffering from depression world wide. Yet somehow still you get those that deny these conditions truly exist, telling you simply to get over it! Reminding you of how grateful you should be and that there’s people living in far worse circumstances in the world. You get told your being selfish or a plain attention seeker. You get told your a burden on family members and friends, friends eventually stop calling and relationships almost always fail. That alone is enough to make anyone depressed isn’t it ?

I can’t tell you just one moment in my life that defines it all, I can’t even tell you the moment it started. It’s a condition so multifaceted, that now looking back I understand that it was definitely in the making for me throughout my early childhood. I’m certain it’s biological as much as it is social and environmental. And that’s the truth for me. It was my genetic lottery and boy did I win the jackpot.

You can’t tell a person with depression that tomorrow will be a better day. You can’t tell a person filled with paralyzingly anxiety and fear that that car ride down the road won’t result in a fatal crash, or that headache that’s lasted several weeks isn’t a cancerous brain tumor eating away at their hours to live. You just can’t. It’s not that easy. And what seems like a joke to most, is reality for those who suffer anxiety and depressive illnesses. There’s no light at the end of the tunnel, there’s no convincing me that I’m guaranteed to live tomorrow or survive that car ride to Uni.

Then you’re shown a wonderous drug that makes every thing better for a time. And you’re cured! You’re normal again. Laughing, living! Going out on the weekend with friends and just being a regular 20 something year old! You’re free!!!

But are you really? Is this not just a temporary fix? Because you know deep down soon as you stop taking that 100mg of happiness in a pill you’re back to sleeping in until 2pm, hiding under sheets and cancelling coffee plans.

You’ve changed about 10 different psychs and counsellors trying to find the one that you can just click with. The one that lets you cry and curse the world for what it is and does it with you. Better yet, takes your hand and says let it out, let it all out and let it go. LET IT GO. These 3 therapeutic words hit me long before Frozen did.
I may not be cured from my affliction, I still have days I’d much rather stay under bedsheets crying. I may not be able to live a wholesome fully plant based lifestyle and rid my medicine cabinet of all the paracetamol and poison – I’m not ashamed of still relying on those happy pills that somehow manage to keep the black dog at bay, or the dark cloud away.

And that’s me surviving what could’ve swallowed me whole many years ago. Every panic attack free day is a victory; every moment fully lived and experienced is a step towards being free. Every person in my life whose stood by me supporting me have contributed to my cure. My children, my husband, my sister, my family and friends that have always reminded me of the countless reasons I have to fight and to live.

Below are links to my favourite mental health campaigns and organizations in Australia.

Little Rose Cafe – Port Melbourne, VIC.