Methylenetetrahydrofolate, also known as MTHFR, and affectionately referred to as MoTHerFuckeR.
Methylenetetrahydrofolate reductase is an enzyme that is involved with amino acid metabolism in the body.
A mutation in the gene that produces the enzyme can affect how a person’s body processes homocysteine, which is an amino acid found in blood. (There are several different types of mutations, but this is a blog post not a medical transcript so I’m not going to get into the variances between the different types. But my NP did say that if you have to have a mutation, mine is the one you want to have {two mutations of the A1298C, Homosteine level is 10.5; normal is below 10.4})
An elevated level of homocysteine increases the risk of blood clots, and typically decreases the body’s ability to metabolize Folic Acid and other B vitamins.
Common risks associated with blood clots are Cardio Vascular Disease, Coronary Heart Disease, and Stoke. In pregnancy: Recurrent fetal losses that can occur in any of the three trimesters, Placenta Abruption (when the placenta detaches from the uterine wall before delivery) Small Gestational Age (where the baby is smaller due to clots in the placenta which results in a lower supply of blood delivered to the baby) Preeclampsia (High Blood pressure, proteins in the urine)
It should also be noted that the decreased ability to metabolize Folic Acid and other B vitamins leaves your baby susceptible to Neural Tubal Defects (Spina Bifida, and a whole mess of other scary birth defects), Preeclampsia and Blood Clots.
So part of the reason that not all doctors test for this is because the link between the MTHFR and recurrent Miscarriage has not been conclusively proven, therefore has never been formally introduced as a risk factor that should be routinely tested for.
I wrote this post because doing the research was therapeutic for me. And unlike my ability to properly absorb Folic acid, having to decipher the data and regurgitate it forces me to really absorb the information, and now I might not kill myself. KIDDING. This shit instantly mattered a whole lot less when I got the NK Assay results back. I still have a lot more reading to do there.
Please, please, please, please, please do not hesitate to contact me if you see the slightest bit of misinformation in my statements above. You can also email me for my references.
Annnnd the last of it; Dr. 3’s preferred method of treatment:
- 2.2 mg of Folgard daily, which is a high dosage of Folic Acid, B6 and B12 (starting now, and pretty much for the rest of my life)
- A prescription strength prenatal vitamin (starting now)
- Low dose/ Baby Aspirin (81mg) (starting now)
- Heparin: Likely started just after my transfer, I will need to give myself two shots per day until I’m at least twelve weeks along, possibly longer - pending future blood tests and the actual occurrence of me being pregnant.
- Calcium: 500mg twice per day, because heparin can cause bone loss. (after I begin heparin)
20 comments:
Hi Melissa! I just got a new doc and our first IVF is also January 2011! I'll be cheering you on and I hope you and Brian get your BFP!
I'm also super happy for you that you're so close to/with other bloggers out there. It's strange when you meet a fellow blogger for the first time; it's almost like meeting a celebrity, isn't it?
If you want to chat you're welcome to check out my blog or email me at coberbro@gmail.com!
You sound so informed. I am glad you are attacking this with research. The whole knowledge is power thing. I am sorry you have to do it at all, but I love how strong and in charge you sound. And some days you may not feel as strong and that's okay, too too. Those days we'll be here.
That list of bullets there at the end? Well, that sounds to me like the stuff that's gonna attack this crappy stuff! Will be crossing everything for YOU. XOXO
Wow Melissa, that is a lot to digest. I'm sure it is overwhelming to say the least. But again, I am so thankful you found this dr. He really has his stuff together and it sounds like he's going to do everything he can to make this a successful pregnancy for you. I had heard of MTHFR before but had no idea what it was. You've really done your research and seems like you are very well informed. I'm just sorry you're going through this. But again, so happy you found this awesome RE. Give him a big kiss for me! If he gets you pregnant he will be one of my new favorite people.
My goodness, Melissa, that is a lot of information to take in. In general, I try to stay away from Dr. Google but I think that in this case, you're very smart to do your research and know what you're up against. I know it's not ideal to have this issue, but I'm glad that it at least seems treatable and it sounds like your RE has a pretty good protocol laid out for it. I will be thinking of you over the coming weeks and months as your IVF approaches...I can't believe how soon it will be here (though I'm sure it still feels forever far away to you). I'm going to want to throw a huge party the day you get your BFP!
Good research. That was very interesting to read about since I have seen so many women receive that diagnosis but have no idea what it really is. Much less exciting is the fact that you have it. I really hope this regimen will work!
Great research - I'm impressed! I have compound heterozygous MTHFR, not as bad as yours, which is not as bad as two of the C type mutations. I've seen all kinds of opinions on the right way to treat this, but it sounds like you and your doctor have a wonderful plan!
This research is great...thank you so much for posting it!
My hematologist told me that unless your homocysteine levels are elevated, that MTHFR isn't something to be concerned about, beyond taking extra folic acid. I know there's so many different schools of thought, though.
Any direction/thoughts with treatment for your NK cells? (I'm curious, since we're in the same boat, down to conflicting doctor opinions)
This is very interesting, thanks for posting your research! It definitely makes the whole thing feel more manageable and treatable. I'm still sorry you have it, but I hope all the vitamins and shots work their magic!
Wow. You really sound as if you are doing your homework. I know tha all of these new diagnosises are a lot to take in and you really have been handling this all pretty well. And doing your research really seems to have helped you grasp what all of this means.
Glad to hear that you and your doctor have a plan AND that you have all of the info about the medication and schedule for that.
Wow Melissa. This is all the testing I have just had done. Have you read the book 'Is your body baby friendly?' As this book explains everything that you are talking about - it explains the science behind it and the treatment in an easily digestible way. Personally I think reproductive immunology is fascinating and offers more answers than you get from most REs.
Sorry you didn't get the test results you wanted but as you said better to find out now rather than later. Wishing you lots of luck and sending big hugs!
Hey! It is so good to be informed...good for you for doing so much research. Your treatment sounds more than adequate so that's good. Not that this is your biggest concern at the moment, but don't worry too much about the cardiovascular implications...I work in lipidology and homocysteine levels fell out of favor a while back in terms of predicting risk for cvd b/c big trials didn't end up proving anything. Good luck with more research!! Everything is crossed for you!
Melissa,
I'm back! And lucky me, seem to be getting the same test results as you (minus a couple).
What a nightmare, no? We need to talk, girl!
I know it sucks to have been diagnosed with all this stuff, but be thankful that you may finally have some answers as to why all the IUIs never worked. At least your RE has a game plan and seems like he's got everything in order. It will be okay and I really have a good feeling that things will work out for you. Know I'm thinking of you and sending you lots of love.
Thanks for all the info. It sounds like you know your stuff. I always thought of MotherF*cker whenever I saw that diagnosis for someone- like "MotherF*cker- this is why I am not PG???
Knowing is half the battle- and I think you are now definitely armed for a fair fight!
i'm so glad you have your Dx now so you can be treated appropriately! i'm homozygous for the MTHFR c-mutation so i'm also on folgard and BA. that's awesome that you really dug into the research. i did the same, but you summarized it so well! i don't have a success story myself (yet) but i've read of soooo many women who once Dx with MTHFR go on to have successful pregnancies. good luck!
Well I don't know what impresses me more.. your research or your protocol. From what I've heard about Mthfr it can be easily side stepped by the meds that your Dr has suggested. So I say BAH to the little mthfr... just let it try to mess with you now.
Best of luck (and thank you so much for your lovely comments you've been leaving for me :) )
Just wanted to say hello -- having just recently discovered your blog, and having so much be familiar to me. I haven't seen a lot of blogs address immune issues (which I have as well), so I'll definitely be cheering you on.
The treatment you listed here sounds a lot like what I was on with our 3rd IVF cycle (which finally equalled a live baby, believe it or not) -- though I did Lovenox once daily until I was 6 months pregnant, and had IVIG during the cycle and in the first trimester. Whew!
Will keep my fingers, toes, everything crossed for you :)
Hi Melissa,
I'm here from Mel's Wishes post.
Your research is awesome. I've always found that having a diagnosis makes so much difference in my being able to accept and deal with an issue. It makes the issue real and legitimate. And it is also so crucial in figuring out how to deal with it. it sounds like you have an awesome medical team in place!
I wish that I had a magic wand that I could wave to grant you a successful IVF next year. The best I can offer is to recommend the Circle Bloom meditations. I used them during our first IUI cycle this month and they were beyond wonderful. Our beta is scheduled for tomorrow, so I can't say yet if they helped me actually get pregnant, but I can say that they have helped me really enjoy the 2ww.
Best of luck to you my friend!
-Foxy
Wow... I've got the same damn motherfucker gene as you, but I never bothered to research it at all so THANK YOU for that. (And best of luck, because I know in my heart it is not the end of the world for us).
Isn't it satisfying to call it "Mother-f*r?" I tested positive for it as well, and I refuse to call it anything else. I wonder if the doctor's call it this behind our backs, too. :-)
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