Finding out I have a MTHFR gene mutation

I feel I have owed everyone this post for a little while now and I’ve just been getting around to writing it. By “owe” I don’t mean that in a negative way but in a totally positive way. I owe it to those who care, who have reached out, who have felt an impact from hearing our story and who simply want to be informed. I can’t stress enough the value I would have taken from something like this had I come across it before I decided to start planning for a family. 

Of course no one thinks this type of thing would happen to them, but (especially me) you’re always a bit nervous and curious as you go through the journey of life and for those who are like me, they agree, knowledge is power. I remember last year, back in December, I vaguely had the intuition to “get a physical” and to “get checked out” before we started but I had no idea to what extent I SHOULD have went because I had no idea. And unfortunately I didn’t meet anyone in my path to tell me otherwise. No doctor or friend said to me, “Oh you should check out to see if you and your spouse are carriers for any genetic mutations” or even during my pregnancy no one said, “Congratulations Katelyn, you’ve made it to the 12 week mark and your % chance of a miscarriage drops but not your chance of stillbirth.” Nobody gave me this knowledge. No one uttered the words “stillbirth” to me - not once. 

All you hear about (what society talks and tells you about) when you think pregnancy is: 

  • “you might not be able to get pregnant right away”

  • “say goodbye to your old body”

  • “you’ll never sleep again”

  • “morning sickness is terrible”

  • “don’t announce too soon, keep things a secret because you might have a miscarriage”

Well that’s not even the tip of the iceberg. And, more importantly, why do I have to know this in hindsight? Why can’t the topics I’ve learned about from first hand (terrible, heartbreaking, soul crushing, life changing) experience be spoken about and brought to the forefront in this day and age. The fact that the statistic for a stillborn (1 in 160) hasn’t changed in 55 years is mind-blowing. What does that tell us? Not that “these things just happen”, it tells us that it’s a clear issue and even with modern medicine it’s not getting better and why, because as a population we sweep it under the rug. It makes people nervous and sad and confused. I’m not sure I could have done much differently (sure I could have gotten a lot more testing done prior) but the one thing I wouldn’t have done was think anything was a sure thing after a certain period of time, like I so innocently was conditioned to believe. Because I didn’t know better. Because Instagram says so. Because people have babies all the time. Because you see everyone’s highlight reel.

You get to this point “after the fact” and you still feel weird and paralyzed spreading your knowledge. I see pregnancy announcement after pregnancy announcement and what am I supposed to do? Message the person and say “Hey I want you to have a healthy baby. Make sure you get these tests done so your baby (or you) doesn’t die.” Umm … no haha. Which is exactly WHY this conversation never happens. This is WHY the cycle continues. Everyone is afraid of scaring everyone else. Well you know what: you SHOULD BE SCARED. You should be really fucking scared that something bad can happen cause you know what, it can. And it’s the worst pain imaginable. 

I’m not writing this to be negative, or a downer, but to open up the conversation on saving a life. To open our eyes that we are on our own when we chose to embark on this journey to create another life. Sure there are doctors, some good doctors, and some bad doctors and doulas and midwives and nurses and you know what … they are all people. Just like me and you. They don’t live in your body, they don’t know you like you know yourself and more importantly they certainly don’t know everything. If you want something you’re going to have to work at it. And if you don’t have to, wow you’re one of the lucky ones and you should be that much more grateful that you’ve been dealt that card and you should make sure you count your blessings every single day.

I have a MTHFR gene mutation. Homozygous C667T to be exact. Genes are responsible for telling the body instructions on how to do things! It’s super hard to explain, but for my condition I basically can’t process/convert folate into it’s usable form correctly and that is critical in the process of methylation and enzyme production. It helps our bodies function on many levels including growth and development and LOTS of other things, even detoxification and removing homocysteine (which is toxic) from our bodies. 

Interestingly enough, about 30-50% of all people might carry this mutation in the MTHFR gene (which is inherited and passed down from parent to child), however far fewer have a more severe mutation (like me) that impacts overall health more drastically. 


To date, MTHFR mutations have been tied to dozens of healthy conditions but the problem is, this research is still “up for debate” as to if it’s a direct cause for these things. I’m not a scientist or a doctor but at the rate I’m learning about this specific research the more I’m convinced that my polymorphism is associated with my pregnancy loss.

Because a MTHFR gene mutation can change (or rather inhibit) the way some people metabolize and convert important nutrients from their diets into active vitamins, minerals and proteins. Folate, for example, is essential in the process of methylation - especially before and during pregnancy. Us mutants will have a hard time converting SYNTHETIC B9 (folic acid) into it’s useable form and actually experience worsened symptoms. Because that will cause a build up in our bodies, creating a toxic environment we are less likely to be able to detoxify because oh yea, by having a reduced methylation contributes to poor elimination of heavy metals and toxins. My liver operates at 25% (as compared to a normal liver operating at 100%). I’m not going to pretend to be an expert, or bore those reading this with the details, but if you are interested I’ve been devoting the past couple of weeks learning about my new mutation. 

Here is an article explaining the mutation overall (but remember I’m homozygous). And here is a good article how it relates to pregnancy. This blog post is great, this girl has the same exact mutation as me.

I also tested positive for an autoimmune disorder and although they can identify the pattern (which is in line with three types of diseases) we aren’t sure which one exactly until I get more testing. I’ll be going to a Rheumatologist for this so if you are interested, stay tuned!

There are a host of other steps and important lifestyle changes I’ll have to make in my day to day life going forward (no more gluten, so sad) but the point of this post is not to educate you on the gene mutation but rather on the advocacy of yourself and reality that things aren’t always sunshine and rainbows (well hopefully rainbows for me one day). My hope for you is that things do go smoothly for you, and if I can help one person by educating them that this stuff could be a reality for them or that this does exist (among a million other things) than it makes this all a little less hard to swallow. Trust yourself, go with your gut and remember that everyone is just a person but not everyone cares as much about your life as you do.