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Dealing with the gene mutation MTHFR

By Lindsay Pinchuk

I am a walking talking MTHFR mutation, and you just might be too.

Just the other month I strolled into the doctor’s office to walk through my yearly blood work. A bit annoyed that as a new mother of a 5 month-year-old I couldn’t just be given the results over the phone, but instead was forced to wake the baby up, get her dressed and out the door just to hear everything was fine.
As we approached page two of my blood work, the doctor paused and asked “did you have any trouble conceiving?”. I was a bit taken aback by that question because, yes, it wasn’t the easiest road. It took my husband and I a year and half and multitude of tests to be told we were in the unexplained category of infertility. The doctor continued, “You tested double positive for the MTHFR gene mutation.”
Over the next month, I researched the mutation online and even spoke to an MTHFR specialist to learn more. As it turns out, this mutation is quite common affecting a high percentage of the world’s population, yet I had never heard of it. Although the variances of severity range, it may be the key to difficulties conceiving, recurrent miscarriages, unexplained infertility, children with Down Syndrome, development of Autism, anxiety, depression, postpartum depression or even preeclampsia.
Understanding methylenetetrahydrofolate reductase (MTHFR)
The MTHFR gene is present in every cell of our body. It is mainly responsible for producing the most active form of folate (or B-9) called methylfolate. Bodies without the mutation are able to thrive off of the synthetic form of folate called folic acid. Folic acid can be found in many cereals, packaged foods and even your prenatal vitamin. Yet, those of us who have the mutation have a decreased ability to convert folic acid into methylfolate, hence forming a deficiency of the vitamin.
You might be thinking, what’s the big deal?
Well, it turns out methylfolate is responsible for a variety of critical enzymatic reactions. Low levels of this vitamin have been associated with elevated homocysteine levels, which in turn is commonly linked to inflammation and heart disease, trouble eliminating toxins from the body, and all of the pregnancy related issues mentioned above.
Before you start getting too worried, do know that I delivered a perfectly healthy baby girl before even realizing I have this mutation. With that said, knowledge is wealth and there are many things you can do to increase your chances of conceiving and carrying a healthy full term baby if this mutation is playing a role in your infertility.
First, Get Tested. Talk with your doctor or OBGYN about getting blood work to test your blood homocysteine level and a MTHFR genetic test. The two most common variations of MTHFR mutation include heterozygous or 1 copy of C677T (passed from one parent) and homozygous or 2 copy of C677T (passed from both). Although you will want to take precautions with both, people like me with the homozygous defect should take extra precaution, especially around child bearing years.  
If you test positive, your doctor will likely have you take these steps:

  1. Avoid Folic Acid – Stat clear of processed foods and vitamins that contain synthetic folic acid, and opt for whole foods that contain natural forms of folate such as spinach or broccoli.
  2. Take Methylated Supplements – Give your body the natural form of folate. If trying to conceive, currently pregnant or breastfeeding, opt for a prenatal that includes methylfolate.
  3. Avoid Environmental and Food Toxins – Those with the defect have a harder time eliminating toxins, so focus on not putting them in your body in the first place
  4. Take Baby Aspirin – If trying to conceive or pregnant your doctor may advise you to take a baby aspirin daily to help minimize the chances of a blood clot
  5. Spread the Word – difficulties conceiving is an awful experience no woman should ever have to experience. Let your sister or friend know about this test as it may just save them some heartbreak in the future.

*Please note I am neither a doctor or specialized in MTHFR. I am simply a mom sharing my experience in the hope of helping another mom. For more in depth information about the mutation and to fully understand the precaution you need to take, please visit your doctor.*

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