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Hi,

I looked all around the community to see where this post could best be placed and it was hard, because I'm not sure it neatly fits anywhere. I decided to post this here because we are TTC and I have suffered several miscarriages.

So, I recently read something about the MTHFR mutation, and I think it is perhaps possible that it could explain some of the symptoms I have been having, including the miscarriages and also anemia, chronic fatigue, and feeling irritable more often than other people.

I know this is a shot in the dark, and I don't understand everything about it by a long shot, but that is why I am posting here. The symptoms seemed to fit me quite a lot so I want to know more about this. What exactly is a MTHFR gene mutation and how can you determine if you have it?

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An MTHFR is one of those "hot topic" medical issues now, isn't it? I read about it recently as well, and I understood it's a gene mutation that causes you to miss an enzyme that helps your body process folic acid. Of course, many things could cause your issues, and they could all be quite unrelated. Repeated miscarriages can be caused by autoimmune diseases, diabetes, uterine abnormalities, polycystic ovary syndrome, and much more. Fatigue can be caused by mental health issues as well as many other things, including the anemia, of course. 

There is a genetic test for a MTHFR mutation I think, and I did read it was quite prevalent, up to a third of people could be affected which is a LOT, but I am still not sure how your doctor would react if you ask for such a test. You could try though. 

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Can I be honest and say that I don't really understand this? One of my relatives is convinced that she has this so-called MTHFR mutation as well right now (after previously being convinced of suffering from this, that and the other) and of course I googled what it all meant. Very little info seems to be out there in the way of reputable sources written for people who aren't doctors or researchers. The Steady Health article on MTHFR mutations is one of the better ones out there but it still leaves me with a lot of questions. Like, would people just report their symptoms, casually mention that they seem to match those of an MTHFR mutation and ask their doctor to have them tested for that? Or can you only be tested if the doctor suspects you have it? And what would it be that would cause them to suspect that? 

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Hi Belle, 

Repeated miscarriages are awful and I completely understand that you are looking for answers!

Has your healthcare provider suggested any testing to get to the bottom of the cause(s) of your repeated miscarriages? They used to do that after three miscarriages in a row but now after two in a row, I think. Causes can include progesterone insufficiency, uterine abnormalities, and autoimmune conditions.

If you are already going through the process of testing, it seems like asking for MTHFR gene mutation testing, which I had never heard of before, is no big deal. If your healthcare provider doesn't think it is necessary they will simply say so. 

 

 

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It is important to know whether you have an MTHFR gene mutation because many of the issues this can cause can be totally prevented with measures such as a proper diet and certain nutritional supplements. I think you are onto something, OP, and you have every right to ask for testing.

Anybody who has any of the following issues could consider asking to be tested for an MTHFR gene mutation, of which there are several different types by the way:

  • Multiple miscarriages
  • Chronic fatigue
  • Heart disease
  • Complications of diabetes
  • Gout
  • Kidney disease
  • Bipolar disorder
  • Schizophrenia

Your symptoms do match up, which doesn't mean you have it, but it does mean testing might be a good idea.

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Yep... that's I found out I had an MTHFR mutation (one gene) as well. My pregnancies only ever went to 8 weeks at most and then I'd start to miscarry. After the last one we did a bunch of testing and the fetus was normal but it turned out I had this MTHFR mutation. 

If you find out you have it too, there are actually several forms, but even the milder can cause issues. The treatment is generally baby aspirin plus high doses of folic acid. You might be put on anti-blood clotting medication (lovenox injections) as well if need be. 

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Hi,

First of all, thanks for the replies and the acknowledgment that I could have hit the nail on the head and perhaps am a step or so closer to some answers. 

So, guest above... your doctor just did this and you found out you had the MTHFR mutation, you didn't specifically have to request one? That makes me feel less crazy and more like my own doctor has neglected to take the steps that needed to be taken. 

I will definitely bring it up. And thanks for telling me about the treatment as well. This is already giving me some hope. Now I need to find out for sure if I have an MTHFR mutation or not, then take things from there. 

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That's right; I didn't request the MTHFR test specifically. It was just part and parcel of the tests I was already undergoing. 

I have since done a lot of reading and though I am still waiting to get pregnant again, there are many stories from women who were able to carry either to term or nearly to term with the measures I mentioned before, or sometimes Heparin is used. 

I obviously can't tell if you have the mutation, but it sounds more than logical given what you said about your symptoms. Definitely follow up on this. I hope you get the info you need and you will be able to have a baby. 

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