MTHFR…..a new word in my vocabulary as of this week!
If you watched my live video this morning I told you that after 6 years of fertility issues, multiple miscarriages and various health problems, my blood tests showed a gene mutation.
And of course, being the research nerd that I am, I instantly jumped on to find out exactly what it all means.
All the info out there is super confusing, or medically challenging (more me anyway) so in true Gutsy Mum’s style I’m going to do my best to explain what an MTHFR gene mutation is and how it can affect you.
Basically MTHFR is an enzyme that converts folate you eat into the active form that your body needs to use. The genes involved in this process are C677T and A1298C.
If you have a mutation in either of those genes, then it’s going to be affecting how much active folate you have available and lead to all kinds of issues within the body and in particular with homocysteine levels (an important amino acid in the blood that is increasingly being recognised as a risk factor for disease and potential health problems)
Folate is Vitamin B9 which is required for the following:
- Synthesis of DNA needed for optimal cellular health and is critical for good health.
- Amino acid metabolism (for neurotransmitter, serotonin, dopamine and detoxification).
- Essential for detoxification of homocysteine.
- Effective methylation – the process of ensuring proper functioning of metabolic pathways and efficient enzyme activity which control vital processes in the body such as regulation of gene expression (Methylation is essentially the “on/off switches” of the body where processes can be activated or deactivated to perform a function).
The process of methylation is also involved in activities such as:
- Repairing and building DNA & cells
- Processing hormones
- Building immune cells
- Producing energy
- Turning the stress response on and off.
- Supporting fat metabolism.
Compromised methylation function basically causes a build-up of toxic chemicals and heavy metals in the body.
Common symptoms relating to decreased methylation function include:
- Fertility issues & multiple miscarriages
- Oestrogen dominance manifesting as conditions like breast lumps, ovarian cysts, endometriosis and bad PMS.
- Sleep disorders
- Chronic anxiety & depression
- Extreme allergies, chemical intolerances, asthma & hives.
- Increased pain and inflammation.
- Increased risk of blood clots and cardiovascular risk.
According to my results I have a single C677T mutation which means I have 40% loss of methylation function. This basically means that I’m a slow detoxifier and where others can over-indulge from time to time and put up with a little headache here and there, over-indulgence for me sends me on a downward spiral for days until my body can catch up.
This explains why, compared to some people, I react much more strongly to toxins. It all makes sense now. Just recently we were walking through a mall and hubby was trying to have a meaningful conversation with me but as we past the entrance to the perfume section of the Myer’s store, I lost all ability to hear him clearly and I was super distracted by the smells. I had no idea what was going on and he thought I was just “not listening” but I literally couldn’t hear a thing he was saying, it just wasn’t getting through as my body had gone into “high alert” mode.
This would also explain why indulging in things from time to time like alcohol, coffee and less sleep on occasions where we’ve had a night out, translates to me being an emotional train wreck and not able to function properly for days after.
It also explains my multiple allergic reactions….my daughter and I were browsing through Op shops recently and I had a major sneezing attack which led to one of the ladies in the store annoyingly asking me “don’t you have any anti-histamines you can take?”.
It also explains my 14 year long battle with cold urticaria – a condition where I break out in hives when I’m exposed to anything cold. I can’t go into the ocean or pools (unless it’s been an extremely hot summer).
It also explains my on and off issue with breast lumps and a recent diagnosis of a 7mm cyst in my left breast.
It would also explain why I had such great results from cleaning up my diet and lifestyle and going low-tox in my home over the past 6 years….little do I know how much of an impact that has had and where I’d be now if I hadn’t taken the journey I have and learnt SO MUCH about gut health.
And lastly, it explains the long, at times heartbreaking 6 year journey trying to figure out my fertility issues and questioning why we had lost 2 beautiful babies.
I certainly don’t have all the answers yet and I don’t yet have a protocol from my specialist but she believes, as do I, that I can “switch off” the mutation and put the gene back to sleep (so to speak!) by increasing my body’s ability to methylate more effectively. The hope then is that my brain will finally communicate to my reproductive system that I’m no longer “toxic and dangerous for procreation” and our wish will be granted!!
Keep following the page for my journey to complete wellness and if you’re keen to learn more about MTHFR, here’s some great starting places:
As always I will be rolling out gut health workshops across Brisbane as your gut (and as it turns out your gene expressions) really do hold the key to overall health and wellness. I’m grateful for this journey because it’s going to make these workshops so much more effective!!
Don’t forget to check out the event’s tab on Facebook or on the website for any upcoming events.