So it turns out there is a test that can inconclusively prove if you are a MTHFR or not. My results came in – I’m officially a homozygous MTHFR! I got a letter in the mail to confirm this diagnosis and burst out laughing. What an unfortunate abbreviation! :-)
Until my diagnosis I had no idea what this type of MTHFR was.....and that there could be different types of MTHFRs!
So what is a MTHFR mutation and how does it impact fertility??
MTHFR is an abbreviation for an enzyme sitting on Chromosome One called Methylene-tetrahydrofolate reductase.
It helps the body process B-Vitamins, in particular Folate. MTHFR enzymes help to break Folate into an active form that the body can use!
When it comes to reproduction MTHFR can affect you more as you get older. MTHFR may mean you are more susceptible to ageing factors and inflammation. When this starts to happen reproduction can go off the bodies agenda – its primary instinct is to use its energy to preserve your own life, so it’s not thinking about breeding!
Pregnancy wise the biggest concern is that my body does not process folic acid properly. If you get pregnant there can be higher miscarriage risks and also higher risk of tubal defects, Down syndrome and autism. There is also higher risk of clotting issues and preeclampsia.
Outside of fertility MTHFR can affect energy levels, mood and also depression. People with MTHFR are at higher risk of stroke, blood clotting and heart disease.
My understanding is that you get one MTHFR variation from each parent, resulting in a variety of combinations all with different levels of severity.
Variations called A1298C and C677T are the most commonly tested for. You can have either a heterozygous mutation (single copy of a mutation) or a homozygous mutation (double copy of the mutation)
Homozygous mutations tend to have more issues that go with them. Two (homozygous) C677T mutations are the least favourable combination - and the one that I have.
With this variation the MTHFR enzyme is functioning 70% less than those with no mutation.
In other words my body is working very hard to break down any folate that comes its way!
But its not all doom and gloom!!
The plus side of knowing you are a MTHFR is:
- MTHFR is something you can treat with taking the right supplements and also with ensuring your diet is full of nutrient dense foods. Supporting your body in the right way can help to neutralise any MTHFR effects.
- It’s not something that automatically equals IVF if you are still trying naturally. A good fertility naturopath and/or Traditional Chinese Medicine should help!
- I’ve made a few simple changes on advice of my Doctor and naturopath and seen enormous benefits from it! After YEARS of suffering badly with my allergies they completely stopped! I also have lots more energy!
My Advice to those just joining the MTHFR club:
- Get a good naturopath who has a focus on fertility and knows their stuff about MTHFR and genetic implications on fertility. They can aid you in finding ways that nutrition and supplements can help.
- MTHFR makes you more susceptible to the negative impacts of toxins and things like heavy metals - our body’s defences to processing these things is lower. We need to be mindful that what we put in, on and around our body’s is important!
- Back away from the Folic Acid – in fact run away from it! Folic Acid is folate in a synthetic form, so our bodies have to work even harder to process it. Talk to your naturopath about getting folate in its already activated form – Folinic Acid.
- Do your own research – there are some really good sites out there – some of my favourites are MTHFR Living, MTHFR Support, Dr Lynch’s MTHFR.net and Angela Heap.
Are you a MTHFR? What are your tips for managing it?