MTHFR Mutation Diagnosis
This is the story of my MTHFR mutation diagnosis, how it was discovered and what preliminary treatment plan I've been prescribed.
MTHFR Mutation Diagnosis
Hey all,
So... I had a consult with an obgyn today and was informed I tested positive for two copies of the C677T mutation Methylenetetrahydrofolatereductase (MTHFR). Basically my blood clots too much and I am not good at absorbing folate. At least that's what they told me.
I guess that explains why I have had three miscarriages and have had bleeding in all four of my pregnancies.
MTHFR Treatment Plan
So far, the plan is to take aspirin and extra folate (for the rest of my life). I think I'm going to do this for three months starting now before I try to get pregnant again.
When I was pregnant with Gabriel I was very diligent about taking my prenatal vitamins before and during that pregnancy. With these last pregnancies (which I actually haven't told you about yet until writing this blog post) I had been more lackadaisical before and during pregnancy about taking my vitamins. Is this what caused two of my miscarriages?
I could easily go down that path of feeling super guilty that I wasn't diligent enough - but I won't. I didn't know any better, you know? I've forgiven myself today... and I'll keep reminding myself in the days to come.
MTHFR High Risk Pregnancy
Right now I'm looking for information on if MTHFR risks me out of an out of hospital birth. I was talking to my obgyn and he seemed to think that I should have my baby in a hospital. He wasn't very definitive in his answer (which of course, was that I should have my baby in a hospital) and I'm not exactly clear of the risks associated with a full-term pregnancy with a double copy of the MTHFR mutation.
Also, I'm interested in finding out what other treatment plans women have found to be helpful. Is the folate and aspirin enough?
So, If anybody has any information they want to pass on to me, that would be fantastic. Go ahead and comment in this post and maybe other women will find it helpful too.
MTHFR Mutation Diagnosis Relief
Honestly, I was really relieved to have found an answer of sorts to what the heck has been going on. I'm not upset at all, and am up for the challenge. Secretly, I've always wondered what it would be like (for me) to have a baby in a hospital. I think I could rock it, you know? I'd have to break out the big doula guns, of course. 🙂
So, there it is. This is what I have kept a secret for many, many months. I feel like today was the perfect time to tell you about my miscarriages because now I have something to work with and towards.





thanks for sharing Lindsey!! I admire your openness!
I'm so glad you worked hard and got a diagnosis. Having a diagnosis sucks, but then you know what you're up against and it becomes less scary that way, and you can devise a plan now. I think I mentioned this site before, but you can search for blogs of women with MTHFR on http://www.stirrup-queens.com, where you are sure to find helpful info. It's a great resource for any issue within adoption, loss, and infertility (you'll find that the ALI Community is huge!!!). All my love to you, and YES, you'd totally rock that hospital birth!
I would start by asking a homebirth midwife if it risks you out of homebirth because they actually know what the midwifery rule says to that (and it has been designed with the risk scoring system to do this). Then do some research to see if other women who have this have had a homebirth or not. And, I also think you could have a totally amazing hospital birth too!
It may suck to have a diagnosis but I also know women who have unexplained fertility issues so at least you know what you have and how to actually do something about it.
Also, I am glad you aren't beating yourself up about what you didn't know during your other pregnancies. After my losses I felt guilty about the few cups of coffee I had.
I hope this leads to good things!
I am glad you have more information about what is going on. I have a friend from college who had many pregnancy losses before she learned she had a clotting disorder. I know she was monitored and on a blood thinner as the situation warranted. I hope you are able to find good support and care. Thank you for being willing to share. I know your story will touch many!
Lindsey,
You mention that you are going to be taking extra folic acid. Have you ever taken a prenatal containing L-methylfolate as an alternative to folic acid?
Holly - Nope, I've never heard of it. How is that helpful as opposed to folic acid?
Lindsey,
I am so sorry for your losses. I think you are so smart to start working on your folate status now. The most crucial time to make sure your folate levels are adequate is when you are trying to conceive.
Because you are homozygous for the MTHFR polymorphism, you have a very limited ability to metabolize folic acid into its active form, L-methylfolate. Folic acid is synthetic and must be broken down in a four-step process. I work with NeevoDHA which contains L-methylfolate as an alternative to folic acid. It is specifically indicated for women with MTHFR. L-methylfolate is the active form of folate. It increases blood folate levels and decreases homocysteine levels more effectively than folic acid and is 6 times more bioavailable than folic acid.
I don't know if you are a member at Babycenter but if not, you might want to check it out. There is a very large group of women with repeat pregnancy loss who have the MTHFR polymorphism. Many of them are on supplements containing L-methylfolate. They have been in your shoes and could also answer your questions about hospital versus home delivery.
Best of luck for a happy, healthy pregnancy in the very near future!
Holly
Thank you for sharing your story! I am going to up my folic acid RIGHT NOW because I've also had 3 miscarriages plus bleeding in two of my pregnancies.
I've only had hospital births and although I know you could rock it, I'm not sure you could really enjoy it- the feeling trapped there after baby has arrived is a very frustrating feeling when you have little ones at home. You're just not allowed to leave until so and so does such and such tests...enough to make a mama crazy! For our next baby, I'm going to insist on a home birth 🙂
Dwija,
Almost every woman on Babycenter who has repeat pregnancy loss has MTHFR. It definitely cannot hurt to start folate supplemenatation as soon as possible.
Dwija - I love your blog! Thanks for stopping by. You can't overdose on folic acid, so it wouldn't hurt. If you do have a blood clotting problem you might consider aspirin too.
Holly - I'll stop on by babycenter. Thanks for all the information!
Leslee and Kristen - Thanks for the information!!
I'm glad you finally have an answer. You are such a strong woman, I know you can conquer anything, and rock the crap out of a hospital birth.
Please don't just take folic acid without further research. It's not always good for people with MTHFR. It is an artificial form. Drug companies like to sell it I think because it's cheap and stable. We can't always avoid it because it is added to flour and many processed foods. But for some of us it can possibly build up and be toxic. If you can't convert it to folate because of methylation issues (ie MTHFR) then I think it's a risky choice. Be well.