Post Miscarriage: Diagnosis of MTHFR

On June 16, 2017 I found out that I was pregnant. On June 29, 2017 I found out that I was going to have a miscarriage. On July 7, 2017 I miscarried. This makes my second miscarriage in less than a year. I already knew that I have PCOS, I do not ovulate regularly, and I have a progesterone deficiency. What I did not realize, however, is I also have a gene mutation/ blood disorder. When I saw my doctor on June 6, 2017, we did not yet know that I was pregnant and had actually decided with my doctor to take a break in trying to conceive. We had been trying for 29 months and it was feeling like more than I could handle at that time. My doctor thought it was a great idea because I was having some other problems and I had learned of a genetic blood disorder that runs in my family. He wanted me to get tested for that to see if I had it or not so that when we re-grouped, if I did have it we could be prepared. I had an appointment set up for a hematologist for the last week in June.

When we found out I was pregnant my doctor went ahead and ran the test himself so that we could be prepared for any curveballs and found out that I did not have it. That was great news, but I still miscarried. Since this was my second miscarriage, he felt that I should keep my hematologist appointment to be sure there was not anything else going on in the background. Due to the news that I was going to miscarry, I rescheduled my hematologist appointment for mid July. This doctor ran several tests and a week later I had more answers.

The hematologist discovered that I had the MTHFR gene mutation/ blood disorder on one gene. There are two genes that can be affected by this. The hematologist and my fertility doctor have spoken and agree that this gene mutation may be playing into my miscarriages. Thankfully, treatment is simple and typically has great results in women trying to conceive whom only have the mutation on one gene. Baby aspirin. I am going to put this as simply as it was explained to me. I am by no means an expert on this but am going to give the information I was given. Basically what happens is during a pregnancy my blood is more likely to clot through the placenta, causing an increased risk for pregnancy losses. Both doctors agree that right now taking baby aspirin should work. If when we begin to try again we experience another loss, it will be re-evaluated to possibly taking heparin, however both doctors are confident that this will help us to be more successful in the future. Some things that I found on the internet as other suggestions are eating a gluten free diet (something I have done due to an intolerance so no big deal for me personally there) and taking B12 and B6 (two that I already take).

Obviously I do not currently know if this new additional of baby aspirin works like my doctors hope, but I have faith and am very hopeful that this is the final missing piece of the puzzle for us.


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