I’m Officially a Motherfucker December 11, 2005
When I went in for my hysteroscopy appointment a little over a week ago, I asked my RE about having the MTHFR test done. (Oh, and I know I can’t be the only one that reads that as motherfucker.) Anyway, it was the one test I hadn’t had done. After my chemical from fresh cycle #2, I had a shitload of tests done including blood clotting tests. I even had a bunch of really obscure tests done. Don’t ask me why the MTHFR one wasn’t one of them.
None of my bigillion tests had ever come back abnormal. I wasn’t really expecting this one to either. I just thought it would be one more thing to cross off of the list. So, it came as a bit of a surprise when my IVF coordinator called me on Friday to let me know that my test results were back and that they showed that I am homozygous for the C677T mutation.
Holy shit. I’m a mutant.
I already knew a bit about the MTHFR stuff, but I went into research mode pretty quickly after getting the phone call. Here’s the basics if anyone is interested. Feel free to skim or skip altogether if your brain is not in a sciency mood.
- The official name of the MTHFR gene is 5,10-methylenetetrahydrofolate reductase. (See, isn’t it easier to just think/say motherfucker?)
- The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase enzyme which plays a role in processing amino acids.
- Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
- Since the MTHFR gene produces an enzyme that helps regulate homocysteine levels in the body, if there is a mutation in the MTHFR gene, homocysteine levels may not be regulated properly.
So, here’s the summary version. If your MTHFR gene has a certain kind of mutation, it can’t process folate (folic acid) properly. This can result in elevated homocysteine levels.
The MTHFR mutation is pretty common. About 44% of people are heterozygous for the mutation (i.e. have 1 variant gene). About 12% are homozygous for the mutation (i.e. have 2 variant genes). It’s generally only considered an issue when you’re homozygous. (like me!) There’s also the whole compound heterozygous thing when you have one A1298C mutation and one C677T mutation, but I think I’ve already done enough of the science lesson thing to go into all of the possible combinations and permutations.
Basically the worst kind to have is the homozygous C677T mutation. As a result of the fact that MTHFR is a blood clotting disorder, that variant of mutation has been associated with an increased risk of cardiovascular disease, including coronary heart disease and stroke. It may also play a role in the risk of high blood pressure in pregnancy (preeclampsia) and may be a risk factor for birth defects that occur during the development of the brain and spinal cord (neural tube defects). It may also increase the risk of miscarriage.
So, what the hell do you do about the motherfucker? You take shitloads of Folic Acid, B6, and B12. For life. A lot of people also take a baby aspirin a day.
I’ve already started my massive dose of vitamins and will be discussing the use of Lovenox, a blood thinner, for this upcoming cycle when I go in for my baseline ultrasound.
I have to say that I haven’t been handling this well. I’m ok being a mutant. That’s not the problem. What’s killing me is that I didn’t ask for this test sooner. I actually had it on my list of questions to ask when I went in for my initial consult with my new RE before starting this last cycle. I honestly don’t know why it never got asked then.
I am glad that we know now. I am glad that there’s something that we can do about it. It is frustrating to know that we would have never found out about it if I hadn’t specifically asked for the test, though.
I’ve been on a major guilt trip since I found out the results. I am feeling totally responsible for the miscarriage. No, we don’t know why the miscarriage happened. No, we don’t know if this MTHFR stuff had anything to do with it. I can’t help but wonder if it did, though.
I just keep thinking that I could have prevented the m/c if I had just asked for the test sooner. I have shed many tears over this the past few days. I hate thinking that might have been my only chance. I may never get pregnant again. What if it didn’t have to happen that way?
I know I shouldn’t be thinking this way. I just can’t help it. It’s a heavy burden to feel responsible for such a thing. It’s one I shouldn’t have to bear, but I find myself doing so anyway. Quite honestly, it’s breaking my heart.
- Posted in : IVF Part 6: IVF #4
- Author : amanda
Comments»
Honey, listen really close for a second… You are not to blame in any way shape or form for the crappy things that have happened. I don’t know too much about MTHFR other than sniggering .. (why am I so childish?) at the name.. so I can’t comment on that, but again, you are not to blame.
It was not your fault. It was not your fault. It was not your fault.
Lots of people, including my uber-fertile friend, have both mutated genes (I personally have one) and have healthy pregnancies without any treatment at all. It’s just one of the contraversial things that sometimes comes up when they can’t find any other explanation. Hang in there, Amanda. It was not your fault.
I can understand your feelings, even though as everyone has said it’s not your fault. I’ve had these feelings too about my past losses and the “easy” things that were done to fix the problems that contributed to them. I hope that treating the motherfucker mutation will lead to a successful cycle. It sucks to find out problems but maybe this will be the fix.
Big hugs Amanda. I know it doesn’t really help for me to say it wasn’t your fault, but try to go a little easier on yourself. You didn’t know, and really, how could you know? “If only” you’d remembered to ask for the test, “if only” the RE had suggested the test… you can drive yourself crazy that way!
You had a lot on your mind and you can’t remember everything. But now you know, and you’re acting on your knowledge, and Gd willing, that knowledge will bring you what you want so desperately. Be good to yourself.
Oh Amanda, it is not your fault! But I’m sure I would be beating myself up to. Thinking of you.
Oh Amanda it’s so hard, isn’t it. I’m so sorry you’ve got something else to deal with. From what I’ve read the vitamins and other treatments will mean that this mutation is quite manageable. But I know it doesn’t take away the pain of the miscarriage. But do as everyone has said and repeat after me: It’s not my fault it’s not my fault it’s not my fault.
I feel the same way about my last m/c being my fault because I didn’t insist they take the septum out sooner. It sucks. I’m sorry for the new diagnosis. To try to put a positive spin on something crappy, at least it’s one more problem that will be treated.
And for a science question, I don’t know if I’ve ever been tested specifically for MTHFR, but I know I had my homocystine levels checked and they were normal. Would they definately be eleveated if I was also a motherfucking mutant?
Oh, Amanda, I can understand you so well, and my heart is breaking for you too. I had a very strong fear after my first RE appointment that they would find a hormonal problem. In all my many workups, you see, I had never ever had my hormones checked (except thyroid), and my gynecologist had never said anything about it either. If I had found out, after three miscarriages, that my hormones were out of whack, I feared I would never ever forgive myself for dropping the ball on something so huge — for not doing a test that, had I not been able to become pregnant in the first place, would have been done before any other. Notice something? Notice that you thought, while reading this, “It’s odd that her doctor didn’t say anything. It’s not like patients can order their own tests…” And you’d be right. Notice where I’m going with this? Now let’s take a closer look at your situation. You brought up something *rare* that the professionals didn’t even spot, and that should have been part of your blood-clotting workup. And of that you can be very proud. And as for not asking the question during the last cycle: these RE sessions are so stressful, and so asymmetrical in their distribution of knowledge and power, and so huge in their potential effect on our lives, that it is all too easy to forget things or to think, during the session, that they’ve been dealt with when they haven’t been. I have forgotten many things in doctor’s offices, and this is a doozy of a doctor’s office. Please treat yourself as you would a good friend, and take that blame off your shoulders. It has absolutely no business being there.
Miscarriage after IVF has to be one of the hardest f-ing things ever because its not like it was so easy to get knocked up (or try again). After I had my miscarriage, I had every immune test in the book done- I have only one mutation of C677T, but it didn’t stop me from obsessing about whether I did something wrong. Its common to blame yourself, but you really can’t go into this cycle wracked with guilt about the last one.
(Warning: Assvice alert!) You need to find a way to let it go- there are 5 million reasons why women miscarry, the hardest one for me to accept was that honestly, sometimes they just happen. (I know I hate that expression, because that’s such a damn cop-out. But unfortunately, its also true, and that what sucks so much about it.)
My therapist lent me a book called “Healing Minds, Healthy Woman” and its about mind-body/relaxation techniques. There are several chapters devoted to IF & miscarriage- I’m finding it extremely helpful to help me relax more, and also to help me deal with the stress of this cycle without being so invested in “it has to work.” I’d highly recommend it if you’re open to that kind of stuff.
P.S. Love the motherfucker analogy- honestly never thought of it. LOL
Please, please, please stop second guessing yourself. You cannot change the past, you can only learn from it. One of the biggest mistakes people make is trying to relive the past. It will never happen (well — until someone figures out how to circumvent this whole space/time continuum, but that’s not coming anytime soon). SO — bottom line — STOP!
You did the best you could at the time. That was and is good enough. Now you know more information for your upcoming cycle. Best wishes to you for your next try . . .
Amanda, I’m so sorry. I also agree with everyone else that you should not be blaming yourself. Guilt, begone. It’s OK to be mad, though, just not at yourself. I’m glad there is a treatment plan for the mutherfucking mutant.
Welcome to the world of mutants -where it’s hard to not feel guilty for not getting tested sooner! Like I’ve said, try not to beat yourself up.
Will they/have they tested your homocysteine levels and then determine whether to go ahead or not with lovenox/heparin?
Jenn- You can be a motherfucker mutant with normal homocysteine levels. Some people think it’s the elevated homocysteine levels that causes the problems, some think having a MTHFR mutation with normal levels can be problematic, too. I think more people agree with the former.
T- When I asked my RE about the whole MTHFR/homocysteine thing, he said we’d test for one or the other. I’m assuming that means that he’ll treat the MTHFR regardless of what my levels would be. I’ll be pushing for the Lovenox when I go in for baseline. I doubt he’ll say no if I go the “I want to do everything possible for my last attempt” route.
I think Julie from A Little Pregnant also recently learned she had this gene - after she had given birth to Charlie. As someone said upthread, many people have healthy pregnancies after been diagnosed with this gene. Please don’t blame yourself for anything!
Karen- I believe Julie was diagnosed with Factor V Leiden, which is a also a hereditary blood clotting disorder. I think it’s generally considered more serious, but I’m not sure.
This was SO not your fault!! I mean, you were the one who asked about the test in the first place! If anything your doctor is the one who failed to make the connection btwn your mc and the motherfucker mutation. And isn’t he the one who is PAID and TRAINED to make these connections?! And geez if I had a dollar for everything I’d forgotten to bring up to my RE I’d go shoe shopping much more often. Please, please don’t hold yourself responsible. Easier said than done, I know.
I know this diagnosis wasn’t an easy one to hear. But I’m glad you have some info to take with you into this cycle.
I only have one copy of the mutation but am on Folgard anyway just as an extra precaution. So, while the Dr. at my old clinic was diligent enough to run this test (along with a slew of even more obscure things), she did not run any sort of tests to detect PCOS. Never did she even say the word PCOS. It was one of the few infertility related subjects I knew next to nothing about. Well (you know where this is headed), I went to my consultation with the new clinic and the Dr. tells me he thinks I have PCOS in which case I need to go on something called glucophage. Of course, now I wonder, had I been on it in the first place, would things have turned out differently? Have I just wasted 2 whole years because my Dr. never ran a few simple tests??
As much as we might educate ourselves about all this stuff, we aren’t Dr.’s. We’re paying them the big $$$ to discover these issues….preferably before we go through numerous failed cycles and end up broke. It shouldn’t have to be our responsibility.
Your not knowing sooner is in no way your fault. It’s pretty amazing that you even came up with it at this point in time prior to your Dr.’s even thinking of suggesting it. I mean what was their reaction to finding out you had the 2 copies of the mutation? They must have felt like idiots given that you were the one who thought to run the test in the first place.
Further, as others have said, it’s not such a cut and dry thing as there are those who have both copies of the variant gene yet have had healthy pregnancies despite no treatment. I know it’s hard but just try to look forward and not back with this new discovery. I mean, now that you know (thanks to yourself) and can treat the issue, it will just be one extra thing that might help.
Oh, Amanda. As everyone else has said, this is not your fault by any stretch. Thinking of you.
Well it is something. I wonder if treating it will make a difference. That’s the thing with infertilty, they don’t really know a lot and so many times it just feels like stabbing in the dark. It sure sounds like it might be more than nothing. I hope your IVF cycle goes well. Sending sticky thoughts your way.
Amanda - I just happened upon your blog in researching MTHFR on the internet. DH and I began TTC 3.5 years ago after my 38th b-day. Since then, I’ve had 6 losses, one of which was a trisomy 18. I was with a fertility specialist that I loved, and I was certain that she had tested for everything. I started with a new doctor in January. She was reviewing my old labs and didn’t see the MTHFR results, so she ordered the test for. Low and behold - diagnosis: heterozygous MTHFR C677T/1298C. I was so upset. I felt betrayed by my old doctor, and angry for myself for not asking her for the MTHFR test. There’s no way of knowing that any of these losses were caused by the MTHFR - I mean, I am over 40 now, but it still sucks knowing that some of this pain could have been spared.
I just discovered your blog as well, after I found out that I am also heterozygous MTHFR C677T/1298C. I miscarried three times in 2005, one of which was on our wedding day. The emergency room is such a nice place to be when you are supposed to be at your reception. >:-( The thing that is really disturbing is that my doctor told me to just keep on taking the prenatals, as if they would have enough B6, B12, and folic acid to take care of this since my homocystine levels were within normal ranges. My question for her is, why even fuck around if you find that you have a patient with this? There is so much that is unknown; I have turned up any mutation of the MoTHerFuckeR being linked to alzheimers, cleft lip/palate, heart disease, etc. Would it hurt to just prescribe all of us Folgard even if only one mutation showed up? Miscarriage is devastating and if I had only known about this earlier I could be a mother by now.
I’m really glad I found this blog– I have been researching this for days. Thanks for letting me vent.
I found my MTHFR problem after 5 ivf cycles (one ectopic and one chemical preg). My Cornell (ny) doc did not think that i should do the blood clooting tests. I had to insist and change to different doc in NYU. I’m angry too and understand your frustration.
hi there,thank-you for making me smile,I have suffered 3 miscarrages,the most recent one 8 weeks ago.It has taken me 5 years to achieve this.I have just found out that i too have 2 mutant genes MTHFR C677T .Spooky really as the day before I was watching X Men!!!!!!!!!!!!!!!!! Unless you have had a miscarriage no-one understands.This time has been really hard as we saw a little heartbeat and it bouncing about.But i have too say I don’t know how I would cope with a severely disabled child.I searched on the internet and saw lots of great things you can get with this gene,cancer,etc but got to try and stay positive.That gets harder each time,but some of your comments made me smile,and has given me hope.All I want to be is a mum,i’m 34 next month and my clock is chiming like Big Ben,but I send all my best wishes to all you ladies,and hope that we will all have the opportunity of having healthy babies.
Hi there
I have had 3 miscarriages is the last 9 mos. I am going through infertility treatments now. My DR. has tested me for MTHFR. And I have the A1298C gene, but I was negative for the C677T. Does anyone know if there is a different treatment for the A1298C gene for miscarriages????? I want to know theres hope out there!!!
Hello, everyone.
I found out this webpage searching for papers on the relation between Cleft/Lip palate and variants in the MTHFR gene.
Well, we have worked with genetics of several pathologies, including childhood leukemia, recurrent miscarriage and cleft/lip palate.
Please, do not be fool. Those mutations (called polymorphisms) are common in humans, particularly in Native Americans. In fact, some tribes from Brazil are fixed for the C677T polymorphism - that is, all subjects have the TT genotype (all mutants!!!). However, the incidence of miscarriages is practically 0% - cuz, of course, they have an adequate diet.
In this respect, several studies have pointed out that the intake of folate simply overcomes any putative effect of the MTHFR variants.
Finally, we have found that subjects harboring the TT genotype have a reduced risk of leukemia as well as cleft/lip palate.
Therefore, do not be fool. Doctors do not know everything, especially genetics!
If you need either further information or want some references, please, do not hesitate to contact me.
Best regards,
Tiago V. Pereira, PhD
São Paulo University Medical School
t27026t@yahoo.com.br
To Tiago,
I had two m/c this year after having a healthy 4-yr-old. I was tested postive on 2 C677T mutation and positive ANA recently. My Dr. said only homocysteine level really counts. I did test on that and am waiting for results. If it comes back normal, then I am asked to take baby asprin only, not even Folgard, not to mention Lovenox. He even provided a link from an expert to support his view:
http://fvleiden.org/ask/51.html
Is there any research or reference that you know of to convince him that the mutation only already warrants Folgard and Lovenox?
Could you please email me at juliet_wang@yahoo.com. I am not good at keeping track of the sites I researched.
I do not understand the doctor has not called me about my blood work yet and I checked the results online. I have had two m/c in my past and I am possitive for two copies (homozygous) for the A1298C mutation. I need some information it is saturday and Ican not call my doctor please someone help!