Tuesday, April 27, 2010


The "little thing" that turned up in my bloodwork sounds scary, but it's really not too bad.  I'm a mutant!  I have two copies the mutation C677T on the MTHFR gene.

From what I can glean from reliable Internet sites, this is not uncommon.  5-10% of Caucasians may be homozygous for this mutant gene (have 2 copies of it).

The effect is that my body can not metabolize folate properly.  Folic acid!  Vitamin B9!  The one and only supplement that is prescribed for all pregnant women, because a lack of folic acid is one of the very few things for which they've found a real correlation with miscarriage, stillbirth, and birth defects.  A lack of folic acid is associated with neural tube defects, especially spina bifida.  Of all the garbage you hear about what to do to maintain a healthy pregnancy, taking folic acid is one of the few that has a basis in science, and isn't just fear-mongering or a fad of the moment.

It is entirely possible that all of my failed pregnancies were caused by this problem, or it could have nothing to do with it.  The doctor didn't order a test of my folic acid levels, but I see there is such a thing, so I'll ask for it the next time I see her.  My body can metabolize some folic acid, so taking large supplements is the way to fix the problem.  (I've already started a supplement called NeevoDHA.)  This also means that if I've been getting enough of this vitamin in my diet plus the prenatal vitamins that I've been taking for years, I may have had plenty in my system all along.

So, as far as pregnancy goes, this is not any kind of conclusion - just one negative factor to eliminate with the easy fix of taking a different vitamin.

As for my own health, this condition means that I am at higher risk for heart attack, stroke, or anything else that involves blood clotting.  However, I am not clear (and I'm not sure doctors are either) on the causality chain here.  I think that the inability to turn folic acid into MTHFR properly causes hyperhomocysteinemia (elevated levels of homocystein in the blood), and that hyperhomocysteinemia causes the clotting problems as well as the problems in pregnancy.  My bloodwork included a homocystein test, and my levels were normal.  This may mean that I've been managing to get enough folate to overcome my body's substandard production of the MTHFR enzyme, in which case, there would be no ill effects (unless I got the causality chain wrong).  But other things I've read indicate that it is not entirely clear whether homocystein levels are a reliable test in assessing these risks.

This web site has a brief but clear explanation of some of the issues, if you're interested.

(I really wish I could find a link between hyperhomocysteinemia or low folate levels in the blood, and any kind of pain.  If this could explain my mystery pain, and if taking a vitamin could fix it, how happy I would be!  I did see one, less reliable web site that mentioned pain and fatigue as symptoms of hyperhomocysteinemia, but since I don't actually have elevated homocystein levels, I think this would be grasping at straws.  Still, I'll bring this up with my new doctor when I see him.)

Hopefully I can clarify these questions at my next appointment with the fertility doc.  In the meantime, she wants Adam and me to get genetic counseling.  We did this after our first pregnancy loss, and they didn't find enough in our family histories to even order any tests.  Unfortunately, I can't seem to get my hands on those medical records, and my new doctor doesn't trust my memory.  She recommended a genetic counselor in Bethesda, which means that we'd both have to spend an entire day on that project and hire a babysitter.  Also, this geneticist does not take insurance, so we'd be paying out of pocket.  We've decided to put that off for the time being.

And that's all for now, folks.


  1. hi Amy,
    if the mystery pain is an amorphous cloud that eventually seems to condense (not proper medical terminology, just how it felt to me) into your joints, you may wish to try removing all the gluten from your diet for a month. My pain started 3 months after I had Lydia, (along with some weird neurological symptoms), and only cleared up 5 years later when I went took all the gluten out of my diet... which I only did after seeing my regular doc., a rheumatologist, and a neurologist, whose tests resulted in nothing concrete (some slightly abnormal results, but nothing wrong enough to diagnose). So they said "it's fibromyalgia!" the wastebasket diagnosis of the decade, and put me on a wide variety of muscle relaxants, painkillers, and too much tylenol - all of which did nothing good.
    The diet is remarkably similar to the paleolithic diet that's been in the news lately... so color me a cavewoman, but at least I can move in the morning, and don't scream when people touch me.

  2. Christa, hmm. One doctor did recommend a change in diet as a possible cure, but her method was for me to eliminate a huge list of things, and then add them back in one by one, slowly. I was not willing to try this without any real evidence that it might work because it was a massive, difficult undertaking. However, it does sound like you went through something very similar. My pain is amorphous only in that it moves around. It can be strongest in my toe one day, and then the next, it's in the ball of my foot. It can be in my knee one day and in my elbow the next, although usually when it moves, there is residual pain in the previous area. It's just stronger in the new place. At its worst, it was throughout the right side of my entire body. Right now it's the toe/foot and I can't exercise or even walk the dog. Were you worst in the morning? I'm also very stiff in the morning in general, and that's when the pain is worse. Movement makes it better in the short run (the remainder of the day), but worse in the long run.

    And I 100% agree with you about fibromyalgia.

    I'm going to give my new doctor a shot at this, but since gluten is such a huge problem for so many people, I might try giving it up. I already eat a Paleo-like diet so it wouldn't be too difficult.

    I'm so glad you worked out your problem. It's really hard when nobody can see your pain or find anything "wrong," and yet you are seriously handicapped and hurting. Good job figuring it out for yourself!

  3. Wow! I feel at home with you all. I have always had fatigue, weakness, and some degree of soreness throughout my body since childhood. I think my parents just thought I was lazy and dramatic and they were not real big on doctors. I tried to think that I was just lazy, too but deep down I knew that was not the right answer because I would try and try and then I would do as much as I could and just seemed to wear out before other kids. I have had goals in my mind and tried to accomplish them, my body just wouldn't cooperate. I struggle with some depression, as do both of my parents, mainly i think because my body feels terrible most of the time. Not to mention the pain. When you have pain and fatigue all the time and you always have, I think a person kind of gets used to it, but some days are worse than others and its much more noticeable. The main location of pain seems to be in the feet for me, big toe area, right in the bend of the joint. My doctor says maybe early arthritis (AT 33!). I always have tightness in all my muscles too, but the most in the upper back, arms, and lower legs. My ankles pop and crackle. I am 33 now and my aches are worsening. I was prompted to get tested for Factor V Leiden Mutation, as my sister came up positive. After having a placental abruption during delivery of my neice, who passed away during her birth, my sister was tested for Factor V. She has 2 copies of the gene. I got tested, came up negative for Factor V, but positive for MTHFR mutation and have 2 copies of that gene mutation! Same parents, Go figure. I aswell had a miscarriage at 10 weeks, six years ago which is common with MTHFR mutation. My new doctor wants to retest me for Factor V, as I may have had a false negative (yes, this can happen) and is screening me for Lupus, as my Aunt has it. My Dad says some of my pain complaints are what hers were before she was diagnosed with Lupus. They are checking my homocystein levels, still waiting on the results, and I have been prescribed Folate for now. Good luck everybody, this does seem to be a mysterious disorder and difficult to treat. Some days I feel its like chasing a rabbit down a hole. I am going to check into the diet changes and appreciate that tip. I wish you all well and I hope you will wish me luck. Oh, yah and I agree about the fibromyalgia comments 100% also, don't think that's the answer. I think that's what a doctor diagnosis when they give up.

  4. I can't believe we have some many symtpoms in common! There has to be more to this mthfr than what they have discovered so far! I just recently went through my fourth miscarriage. I was diagnosed homozygous for mthfr 5 years ago after having three miscarriages. With my four year old daughter I was on lovenox 2x/day and with this last pregnancy for some reason they changed the dose to 1x/day and I miscarried! I have been diagnosed with chronic fatigue syndrome. I have muscle aches all the time. I have had the big toe pain also! Never thought much of it before until now. There are too many similarities for this not to be related. I hope everyone the best of luck.

  5. [...]  I’ve never had any indication of problems with my body related to pregnancy, except the MTHFR issue, which seems to be a non-issue, especially with the extra folic acid I’m taking religiously. [...]