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MTHFR Gene Mutation Test Results

MTHFR Gene Mutation Test Results

Today’s post will make more sense if you read my last one. So rather than recap everything again that lead up to these results you can go ahead and read that one by clicking here. I may have called the clinic three times to ask about my results over this last week. No one seemed to have a time frame for me of when to expect the results and they said, “This test takes a little longer.” 

 

Finally my doctor called when I was in a Wendy’s drive through with my Mom who was driving, I was visiting her that day. I had my phone up to my one ear, and my finger in the other ear trying to block out all the unusually happy workers inside who were all laughing hysterically about something for what seemed like five minutes straight while I was on the phone trying to hear what he was saying.

 

“You tested positive for the MTHFR gene mutation,” he said. He went on to explain some details that I wasn’t able to grasp in the moment, probably due to a combination of not hearing him and not actually processing all the info. I had to call him back later to actually write down what he was trying to explain to me. He said I have the “MTHFR gene mutation C677T heterozygous single version.” He thinks that some of my miscarriages may have been caused by this gene mutation. Essentially, when you have a MTHFR gene mutation your body cannot process folate well, which is an incredibly important vitamin that helps the baby grow properly. 

 

I had very conflicting emotions with this news, mostly a combination of anger and relief. I was so angry that none of the doctors had realized this earlier, and that one doctor mistakenly told me that I was negative for this gene mutation when she really meant to say I was negative for Factor Five. So I went on to tell my next doctor and several other medical teams I was working with that I did not have MTHFR, going off what she had told me. Sadly, none of these doctors thoroughly looked into my file. Had they done so I may not have had to deal with 2.5 years of five miscarriages and paying for IVF. 

 

I’ve heard stories of women who’ve suffered through many miscarriages before their doctor tested them for MTHFR gene mutation. When they discovered they had it, they were put on the proper medication and vitamins and boom…they have a healthy baby in their arms. I pray it will be that simple for me as well, but I also have Low Ovarian Reserve so it probably won’t be that easy. On the other spectrum of my emotions, I am feeling so much relief knowing that a huge missing puzzle piece has finally been found. But to be honest it is going to take a while to get over my anger. I think in time I will get over it, but right now it is pretty difficult.

 

I sat at Mom’s dinner table and talked about the news with her. She was the one that had mentioned to me several months back my Aunt has the MTHFR gene mutation. This perked my ears up because I remember hearing that acronym as part of the fertility tests I thought I took early on. I explained to Mom, “Had you not told me that, I would not have double checked that I actually got tested for it.” Mom got kind of teary eyed and said something to the effect of, “I didn’t even realize that was something related to fertility.” In other words, Mom had no clue the wheels she had set in motion for me. But I’m glad that she did. I’m also glad that my Aunt spoke up about her medical issues that were caused by the MTHFR gene mutation. Those conversations led me to my diagnosis that could help with my fertility, and ultimately help me to have much greater odds of having a baby.

 

I am brand new to this diagnosis so I have much to learn about it. I’ll probably do informational posts on it in the future. One thing I mentioned to my Mom is that I learned the MTHFR gene mutation has been correlated to some cases of cancer. So my diagnosis has sparked her curiosity into whether she may have the MTHFR gene mutation as well. She has beat cancer twice already and is the strongest woman I know. She said she would look into testing. It’s kind of surreal to finally have a concrete answer as to why I have recurrent miscarriages, and even more so surreal there may be a simple solution of medicine to help me. My OBGYN referred me to a geneticist that I should be seeing soon. Maybe next year we will finally have our little one.

 

Thank you for reading. 

Catch up on past entries by clicking here for the archives page. 

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Image Credit: Photo by Pixabay from Pexels

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