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A Story Of A Mutated MTHFR Gene Connected To Miscarriage

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Rachel Loth, Guest
Thyroid Nation

MTHFR And Miscarriage – My Story




Around May 2010 I found out I was pregnant with our 6th child. We had 4 living children and I’d had one previous miscarriage. My first miscarriage was very early. That time, we found out I was pregnant on a Thursday, mailed out some cute announcements to our family across the country on Friday and I miscarried Sunday. It was shocking and upsetting but not hard physically. I was pregnant the following month with our daughter and I had a healthy, easy pregnancy.

But my second miscarriage was different. I was planning on using midwives again for the birth and they don’t do routine early ultrasounds. While I was nauseous, I wasn’t as sick as I typically was – I just had this nagging feeling that things were not ok. So I set up an appointment with an OB to get one. The ultrasound confirmed my fears. There was nothing to see, the pregnancy had not progressed past the early stages. But my body still thought I was pregnant. They offered me a D&C but I refused. We didn’t have the money and as a devoted advocate of natural birth, I wanted to miscarry naturally.

At around 12 weeks I was hanging with some friends and laughing a ton when the miscarriage began. I rushed home and lost a large amount of blood at once. I’d go 45 minutes or so with nothing, then lose a lot again. Ill spare you the details but after many hours of this pattern, things took a turn for the worse. While my husband knelt down in front of me because I felt so dizzy, I passed out. I was transported via ambulance to the hospital where I continued to hemorrhage. What happened at the hospital is another story – but let me just say that if ANY doctor, at ANY time, does not respect your body you have every right to stand up for yourselves ladies. The rest of the night is fuzzy but I was able to avoid a D&C and they gave me something to sleep through the night as I received 4 units of donated blood.

For the next 30 days I was extremely depressed and it got so bad I started to wonder if I was losing my mind. I remember going to church one day and just crying and crying because I felt so absolutely lost. Then, I started to bleed again. I had retained placenta and that’s why I felt like I was going crazy. My body was incredibly confused. After all of that, I ended up having a D&C anyways and I felt much better. I could finally start the healing process. But I didn’t trust my body, it had let me down.

I Wasn’t The Same After That. 

Things were just different. I loved to drink iced tea before my miscarriage but afterwards I couldn’t handle any caffeine at all. I’d shake all over if I drank tea. I was anxious constantly . We’d already had a really rough year before this happened in August and it took a toll on my health.

Fast-forward to 2013. I’d had a perfectly healthy pregnancy and very healing pregnancy and birth. I was head-over-heals in love with my new little girl. My body had known what to do and done it perfectly. But I was still anxious and struggled greatly with many different fears. I was also forgetful, tired, my brain was foggy and I didn’t sleep well. I’d stay up really late and my mind would come alive after 11pm (sound familiar mommies?) but the mornings were torture because I was so exhausted. I forgot important things often. But worst of all was the anxiety. I’d be sitting on the couch just watching a show and my heart would start to race like I was about to walk out on stage. And this happened ALL the time, over and over. It was exhausting. I thought it was an emotional or spiritual issue and that it was an issue with who I was. I did my best to learn to breathe slowly and try to slow things down but it never really helped.

A Year Later, I’d Had Enough.

I was tired of feeling like something was wrong with me, like I was a bad mom and a bad Christian because I couldn’t just “relax and trust God” (this came not from the church but from certain people in my life). Nearly every afternoon I’d crash, often falling asleep on the couch even though I was home alone with my 5 children. I’d feel like I was drugged many afternoons. I decided to find someone to help me figure out what was going on. I found a holistically-minded RN who specialized in women’s health issues. She started with a full blood panel and some saliva testing to see what was going on with my cortisol levels. I’d heard about MTHFR online and had done a little research and I requested she test me for that as well.

There are several known MTHFR genes that affect the methylation processes but there are 2 main types that they regularly test for. I had a mutation on each one of these genes, C677T and A1298C. So what does that mean?

What Do These Genes Do?

When it’s all working right, the MTHFR gene begins a multi-step chemical breakdown process, aka methylation, which in simplified terms, is like this:

  • The MTHFR gene produces the MTHFR enzyme.
  • The MTHFR enzyme works with the folate vitamins (B9, folic acid), breaking it down from 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
  • 5-methyltetrahydrofolate helps convert the amino acid homocysteine down to another essential amino acid, methionine, which is used by your body to make proteins, utilize antioxidants, and to assist your liver to process fats. Methionine helps with depression and even inflammation.
  • Methionine is converted in your liver into SAM-e (s-adenosylmethionine), which is anti-inflammatory, supports your immune system, helps produce then breakdown of your brain chemicals serotonin, dopamine and melatonin, and is involved in the growth, repair and maintenance of your cells.
  • i.e. a proper methylation pathway like the above is going to mean you will have a better chance in eliminating toxins and heavy metals, which can reduce your risk for cancer and other health issues, and put less stress on your adrenals. (source)

What A Defective (Mutated) MTHFR Gene Does To You:

  • it functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins or heavy metals well i.e. you could find yourself with high iron, or high copper, or high lead, or high mercury….etc. High copper can also cause low ferritin, even though your iron levels look great..or vice versa.
  • The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is the precursor to), which can cause high homocysteine, which can increase your risk of coronary heart disease (arteriosclerotic vascular disease or venous thrombosis), and related heart and BP conditions, as well as increasing your risk for dementia.
  • Homocysteine is poorly converted to glutathione, which is your body’s chief antioxidant and detoxifier. You are then more susceptible to stress and toxin buildup.
  • Homocysteine is poorly converted to methionine, and less methionine can raise your risk of arteriosclerosis, fatty liver degenerative disease, anemia (see Wiki), increased inflammation, increased free radical damage… and produce less SAM-e
  • Less SAM-e can increase depression
  • And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions.
  • You can find yourself with high folate or high B12 i.e. your body will have problems converting inactive forms of folate and B12 to the active forms. So the inactive folate or B12 will simply build up in your serum, also inhibiting the active forms. Most serum folate tests are actually measuring folic acid, which needed to be converted to methylfolate to be used metabolically.
  • The journal Molecular Psychiatry states that “Schizophrenia-like syndromes, bipolar disorder, Parkinson’s disease, Alzheimer’s disease and vascular dementia have all been associated with one or more mutations of the MTHFR gene”. (2006;11, 352–360) (source)

There Are Many Combinations Of MTHFR:

  • Homozygous: means you have both copies of either the 677 mutation, or the 1298 mutation, one from from each parent.
  • Heterozygous: means you have one copy of either the 677 mutation, or the 1298 mutation, plus a normal one from the other parent.
  • Compound Heterozygous: means you have one copy of the 677 mutation from one parent and one copy of the 1298 mutation from the other parent.
  • Triple homozygous mutations (more rare): an example would be one C677T, one A1298C, and a P39P or R594Q, for example.

I Have Compound Heterozygous.

The body systems are intricately connected. When there is a hiccup in a system somewhere it affects your whole body. At the time I found I had MTHFR I was very anemic, my glutathione was low (see above – this is the chief antioxidant and detoxifier), my folate was high, I had anxiety and depression and many other things that my gene mutation explained.

I’ve spend the last 2+ years learning all I can about my body and how best to support it in light of this new information. This is a continual process that has cost a lot of money and time and required me to seek out a lot of different gifted alternative care providers. THANKFULLY I no longer suffer with anxiety like I did before. I still feel that way when I fly on airplanes sometimes, but not just sitting around the house. I try really hard to get to bed at a decent time and now get up at 6:30 on the weekdays to help keep my cortisone levels high at the right times and support my adrenals. There’s a lot of things I do differently now and I feel a lot better.

My miscarriages and the bleeding I had the second time are likely because of MTHFR. All 5 of my children had tongue and/or lip ties at birth which are midline defects linked to low folate. I took prenatal vitamins of course but they likely had folic acid (the synthetic version of folate) that my body couldn’t absorb and use for my babies. One of my children had a heart issue that could also possibly have been related.

What Do I Do Differently Now?

I now take a lot of different supplements, including methyfolate (do not take folic acid), to support my body systems. I do not eat gluten or dairy because I do not tolerate them well – it is common for those with MTHFR to not tolerate these foods. I eat a whole-food based diet and eat sugar only occasionally. Eating right makes the most difference in how I feel. I’m still regularly seeing a naturopath, chiropractor and acupuncturist to manage my different health issues. They’ve been such an incredible blessing in my life and I’m thankful for what I’ve learned and can now pass on to others.




So What Does This Mean For You?

Some estimate that up to 40-60% of the population may have some variation of the MTHFR gene. If you have had miscarriages or suffer with health problems such as anxiety, depression, adrenal fatigue, etc. then it may be well worth your time to be tested. Most insurances will cover it, mine did. Even paying cash its not an expensive test relative to others. My hope is that one day ALL women, if not everyone, will be tested for MTHFR as part of routine blood testing and check ups.

Are We Prisoners To Our Genes?

No, not at all. The relatively new study of how genes can behave based on lifestyle and environmental factors is called epigenetics. It’s complicated and I’m no scientist but you can read more HERE if you’re interested. The bottomline is that they are learning how what we are exposed to, what we eat, what we do (or don’t do) to take care of our health absolutely affects our health, sometimes in spite of our genes.

I recently did extensive genetic testing through 23andme.com. While I have many genetic “mutations” that doesn’t mean they are active. I am working with a naturopath to figure out which are affecting me and how to best support my body.

What Can You Do If You Find Out You Have The Mutation(s)?

  • Find an experienced practitioner to help you learn about your specific situation.
  • Avoid processed foods like breads, cereals, etc. which have added synthetic vitamins which often includes folic acid which cannot be properly converted.
  • Get your daily intake of greens – spinach, kale, swiss chard, etc which are naturally rich in folate
  • Eliminate toxins from your home because your body cannot properly detox: Clean with natural cleaners (we use doTERRA essential oils), get rid of non-stick/teflon pans, use diffusers and essential oils instead of candles or air fresheners, etc
  • Incorporate some gentle, natural detox regimes such as epsom salt baths, saunas, dry brushing, etc.
  • Learn about what foods to eat: Good Foods For MTHFR: What To Eat

This link was very helpful to me when I was first researching MTHFR, the videos at the bottom are very helpful also: Shouldn’t we all be getting tested?

What I’ve Learned…

Our bodies are beautifully complex and each body system is intricately connected to the others. I’ve learned to listen to my body and to reach out for help from those who are experts in how our bodies work (for me that was naturopaths, DOs, a lymphatic massage expert, chiropractors and MTHFR experts). I’m still working on putting all the pieces together, its complicated but I’m determined and hopeful that I can one day feel good all the time. I do feel better than I did a few years ago but I still battle days of terrible fatigue, hormone imbalances, and toxicity issues. I am beyond-words thankful to God that I was able to have the 5 healthy children that I have.

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About the Author

Rachel LothRachel Loth‘s family’s health journey began many years ago as they worked through a lot of issues with their kids that have become “normal” in America. As they looked into each issue they learned more and more about the chemicals and hidden dangerous in typical American foods and medicines. They changed their diets, used different products in their home and even drank different water! They also completely eliminated artificial smells. Anything with “fragrance” in the ingredients list has chemicals and is toxic to the body. Fabric softener, shampoo, soap, lotion, etc. these are all adding to the chemical load on our bodies. Over the years they added more and more natural and herbal choices to their family care, like colloidal silver, elderberry syrup, cod liver oil, etc. Follow her on Facebook, Instagram and Pinterest. The original article can be found here.

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Questions or anything to add about the MTHFR gene? We want your thoughts, please. You might just help someone else in need.

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