MTHFR

jervisamy

Anyone else been diagnosed with this mutation? How are you being treated and followed through the pregnancy? I had a late loss at 17.5 wks in May and was diagnosed so just wondering what approach your dr is taking.

tarier

I was diagnosed with this and have been taking low-dose aspirin for months.  Since I am now pregnant, I also have to take daily shots of Lovenox and will continue throughout the entire pregnancy.  

Dbaby2

I have had 3 losses and finally this time we saw a baby and heartbeat which I never get this far.. I'm on folbic and lovenox40mg as well as far as we know I only have the one mutation I'm praying my baby sticks this time!!

hgsurvivor

I was diagnosed with a single mutation - you can have single or double - well before we started TTC (long story but it was because they found my mom had it so recommended my sister and I het tested). Two primary cares physicians, and three obgyns (including a specialist in NYC) later, I was finally told that the main issue is it doesn't allow your body - at the cellular level - to break down follic acid into L-Methylfolate. The L-Methylfolate is the ultimate version of the molecule needed for each individual cell to process a free radical called homocysteine - this is a natural bi product of other processes in the body but it needs to be flushed out of the body, otherwise it accumulates and causes all sorts of problems ranging from infertility to cancer to a whole bunch. So the best way to treat it is by giving the body folate - which is the natural version of folic acid (folic acid is the lab-created, cheaper, readily available version). Or better yet go straight to L-Methylfolate. Which is what I take in the form of a prescription called Keplin. I guess it was originally put together to aide antidepressants but it is 100% L-Methyilfolate. Plus it's 7.5 mg of it. Most OTC PNV only have 400 - 800 micrograms of folic acid. This is 7.5 milligrams, so 7500 micrograms.

Anyway, that's how my medical team is treating it. I did a whole bunch of research on it - beyond just google, and everything I read confirmed that folate or L-Methylfolate is best.
Obviously I am no expert at all. Just sharing my experience.


Edit - typos

arteduc8

I found out a few years ago that I have the homozygous C677 mutation, meaning I inherited it from both parents.  Therefore, my body really has a hard time processing folic acid.  I found out because my uncle tested for it, so my father was tested, and he was homozygous.  My sister and I both tested and are homozygous.  My doctor (GP) originally wanted to put me a synthetic folic prescription (Folgard?) and I refused.  I had done my research and wanted Metanx as it has L-Methylfolate, which is a few steps down the methylation pathway which my body can access.  Synthetic folic acid can actually block the methylation pathway.  Studies have shown it might also increase chances of getting cancer.  It also can increase the levels of homocysteine in your blood which can cause blood clots, heart attack, stroke, etc.  I had my homocysteine checked a few years ago and it was in the normal range.  My sister's was high for her age though.  She has had 2 successful pregnancies without issue. 

Now that I'm pregnant, I've been taking Seeking Health's pre-natal vitamin as most prenatals on the market are full of folic acid, exactly what I don't need.  Instead, it has L-Methylfolate. I take 8 of those a day and a Metanx tablet. I saw my OB Monday as I am considered high risk being homozygous.  She suggested I take a daily baby aspirin and DHA.  In a week and a half I go back to get an ultrasound and blood work done.  They will check my homocysteine and I will also setup an appointment to see a Maternal Fetal Medicine specialist (aka high risk doctor).  My OB said for now everything looks good.  I'm hoping that taking enough L-Methylfolate and baby aspirin will help me out.  MC is my biggest fear, but I'm feeling good.  I'm fairly certain I had a chemical pregnancy last month (symptoms were intense, but no positive, period a few days late and I'm never late).  I think I'll feel even better after the ultrasound and blood work comes back. Fingers crossed!

alylove11

Just wanted to let you ladies know that next Wednesday, I'll be doing a high risk pregnancy check in! That way we can keep the support up, and check in on everyone who is high risk.

hgsurvivor

@arteduc8 didn't know about Metanx. How much L-Methylfolate does it have? I'd like to talk to my doctor about it. Like I said, she put me on Keplin which is only L-Methylfolate and its 7.5 mg. But I also have epilepsy - also high risk just for that - and the medication I take for it lowers the level of folate in the body, so I need extra extra, to counter both the mutation and the medication. Not to mention the seizure medication also increases the risk of neural tube defects - so more folate is used during pregnancy for it. Without the mutation, pregnant women on the medication I take are given 4 mg of folic acid. That's why my doctors put me in such a high dose of L-Methylfolate. Initially I thought maybe it was too much haha.

And definitely give us an update. I'd like to know how it goes!

arteduc8

@BVBabyHopeful Metanx has 3mg L-methylfolate, 35mg pyridoxal 5′-phosphate (active B6)/ 2mg methylcobalamin (active B12).  My pre-natal states that it is specifically formulated for women with MTHFR, so fingers crossed.  Here's the site, but I buy it on Amazon with Prime. https://www.seekinghealth.com/optimal-prenatal-240-vegetarian-capsules-seeking-health.html

Folate [50% as Quatrefolic® ((6S)-5-methyltetrahydrofolate, glucosamine salt) and 50% as folinic acid (calcium folinate)]	800 mcg	100%

We'll see what the MFM tells me when I have that appointment.  My regular OB thought what I was doing now was good and suggested the baby aspirin.  I mentioned Lovenox, but she said I might not need that and for now to use the baby aspirin.  So it looks like Metanx has less l-methylfolate than Keplin, but it also has the active forms of B6 and B12.  

hgsurvivor

@arteduc8
Thanks for the info. I will certainly look into it. I like that Keplin is prescription and insurance pays for it so I end up paying like $3 for it.

Definitely let me know how the apt goes.

jervisamy

Thank girls for all the info. I'm taking Prenate Elite (ptescription PNV) which has the methyl-folate. I'm also on additional folic acid supplement by prescription but I'm thinking I need to get that switched to the methyl kind. I took Prenate alone with my first pregnancy (I didn't know I had the mutation then) and was fine so at this point we are going to not do blood thinners. I have my 6wk ultra sound next week and the. I'm getting referred to the high risk Dr. So he may have a different plan for using blood thinners. I just don't want to go through a Loss again. I'm homozygous with the C6667T.

soralette

I'm homozygous A1298C, and all I've got is 2mg L-5-methylfolate on top of my prenatal. Since we didn't find out about my MTHFR until after my son was born just fine, the doc didn't see a need for blood thinners or anything. Good luck, OP!

hgsurvivor

Yeah I think the methylfolate is really the main thing in terms of the mutations. I'm thankful that I know it's there so I can do something to counter it. 

Those of you going to appointments soon, keep us updated. My first 8-week isn't until Nov 19, so I'm really curious how things go. 

jervisamy

We got to stick together! There's lots of crazy info out there on MTHFR so if we can keep each other up to date we can get each other through this.

arteduc8

jervisamy, I just looked at Prenate, but it seems to also have folic acid.  Everything I've read states to avoid folic acid as it can actually block up the methylation pathway for those of us with MTHFR by blocking the receptors so that we can't use the methylfoloate.  I keep hoping to find a prenatal that isn't as expensive as the Seeking Health prenatal, but so far it seems to be the best one for me. 

hgsurvivor

arteduc8 said:

jervisamy, I just looked at Prenate, but it seems to also have folic acid.  Everything I've read states to avoid folic acid as it can actually block up the methylation pathway for those of us with MTHFR by blocking the receptors so that we can't use the methylfoloate.  I keep hoping to find a prenatal that isn't as expensive as the Seeking Health prenatal, but so far it seems to be the best one for me. 

I don't know how much your prenatal is but I take Thorne Basic Prenatal (Amazon) and it has folate. Plus as stated above, I take 7.5 mg of L-Methylfolate in the form of prescription Keplin. That prenatal also has not given me any nausea even when I take it without food, at night, first thin in the morning etc. so far I've been happy with it.

soralette

Yeah, the Seeking Health one was good... But I just can't gag down eight pills a day now, so I went back to my old one.

@arteduc8 -- The Prenate doesn't have folic acid, though -- it has the same Quatrefolic brand methylfolate that Seeking Health uses. My local pharmacy keeps not carrying it, though, so I dropped my prescription because it was just too difficult.

Kellyg39

@BVBabyHopeful do you have any tips about getting pregnant while having Epilepsy?  I'm working with both my neurologist and general physician now but I don't know any other people with Epilepsy who have had a baby.  Thanks!

GoMommy

I am homozygous c766t also. I take baby aspirin and throne prenatal and with extra folate.

arteduc8

@GoMommy Did your doc prescribe the baby aspirin and extra folate? What kind of folate are you taking?

danalynn86

I have an MTHFR mutation and I take the Raw Garden of Life prenatal. It's about $37 for a 2 month supply on Amazon, it's a 3/a day. I do 1 in the AM and 2 in the PM, but it has folate as opposed to folic acid. It hasn't made me nauseous, though it does have an earthy taste. The taste is WAAAAAY better in my opinion to the 1/day Honest brand prenatal I was taking before I got pregnant. Those things taste like rancid Filnstone vitamins I hated them, a lot.

arteduc8

I had my 2nd visit with the doctor on Monday which included my first ultrasound.  Baby looks great! Heart rate was 126 bpm and my due date was exactly what I thought, June 15th, so I'm at 7 weeks today.  I go back in 5 weeks to meet with an MFM to discuss my vitamins, Metanx, and baby aspirin to see if I need to make any changes.  They also drew blood to test my homocysteine levels to make sure they weren't too high.  With MTHFR, elevated homocysteine can increase the risk of blood clots. Should get those results soon.  I decided to pass on the 12 week genetic testing panel and will do the 16 week one which can test for spina bifida, which could be a concern with MTHFR.  Doc said most insurance covers the 16 week, but the 12 week can be iffy. Hope all of you are doing well, too! 

stringgirl

I am homozygous c766t, had five first trimester (6-10.5 weeks) missed miscarriages, all "unexplained."  Only thing abnormal with us is the MTHFR.  I'm 8.5 weeks with identical twins.  My RE has me on baby aspirin, heparin 2x a day, and plaquenil.  Also, I'm taking 5 mg of methylfolate and B12 in addition to my Garden of Life Organic prenatals (and diclegis for "morning" sickness).  Our next ultrasound is friday.

My last pregnancy, I was on aspirin+heparin, but my Doctor took me off after a SCH at 8 weeks.  Also, I was talking extra folic acid, but I didn't know that I should be taking folate instead.  Baby's heartbeat stopped at 10.5 weeks.

arteduc8

@stringgirl Have you had your homocystiene levels checked? Curious if that could have contributed to your previous MC.

I just got my homocystiene levels checked and they were very normal, 5.3. That was a relief. I've been on Metanx for a few years, so it appears to be working.

stringgirl

@arteduc8 Yes, after our third loss we had my levels checked, and they came back normal, which is good, but frustrating when you are trying to find answers.

nekedfeet

I'm planning on getting tested for MTHFR this week-  starting to freak out about a little bit as I just connected the dots on this one.  My mom has C6667T and my Aunt (her sister) has C6667T and A1298C, but no one thought to tell me this could cause problems for me re: folic acid.

The reason I've finally connected the dots: I've been having unexplained high liver enzyme numbers for nearly a year now, and now my iron levels just went up out of range.  I was looking at possible reasons for this dysfunction and found out that if I have MTHFR too (which is likely), not only am I and my baby not getting any folic acid, but I'm blocking my ability to receive natural folates AND POISONING MY OWN LIVER, as my liver can't properly break down the folic acid with this gene mutation.

My last pregnancy ended in Turner's and severe cystic hygroma at 14wks, which is not indicated as a "lack of folic acid problem" but now I'm completely freaking out that I've caused this new baby-- which is 7w3d possible problems.  Overreacting?  Probably, but I'm pregnant, so it's to be expected.

I guess my question is, if I find out I have MTHFR-- a.) how long will it take to get those results? b.) if I stop taking folic acid and start taking the appropriate L-Methylfolate, will I end up dislodging a whole load of toxins from my malfunctioning liver?  That makes me awfully nervous with a baby in there, on the receiving end of toxic build up.
Sheesh.

lilp2015

When I was tested after my second loss it took 2 weeks for the results. I have 2 mutations so I'm on lovenox shots also. MTHFR caused both of my mc's at 7w5d. Im 7w1d and a nervous wreck. I'm not sure what would happen if you switched meds now. My dr likes to have you start the right meds 3 moths prior to ttc. That didn't happen in my case. I found out I was pregnant 5 weeks after my loss. Lots of thoughts and prayers!

live4something

Creeping from another board... I too have MTHFR and I was diagnosed after taking the Counsyl test. The test was given after my loss in April. I don't know if the MTHFR caused my loss, or because I was low in progesterone, or if there were chromosome issues. As soon as I got this BFP, I started on progesterone suppositories and a pill called FaBB Tablets (for the MTHFR) twice per day and regular pre-natal vitamins. I'm 16w3d today. I go in for the anatomy scan in two weeks where my maternal fetal specialists says we'll check for all issues, but will pay special attention to the baby's spine to make sure we're all okay. Wishing you all the best of luck.

arteduc8

@nekedfeet Is your mom heterozygous or homozygous? If she's homozygous, than you are at least heterozygous (having one copy of the gene). If that is the case, you can process folic acid, just at a lesser ability than those without the mutation. If you are homozygous, your body really can't handle folic acid.

As far as releasing toxins if/when you switch to L-methylfolate, that's really a convo to have with a doc who really understands MTHFR.

arteduc8

Sorry, reposting, not all of my initial response posted, grrr....

@nekedfeet Is your mom heterozygous or homozygous? If she's homozygous, than you are at least heterozygous (having one copy of the gene). If that is the case, you can process folic acid, just at a lesser ability than those without the mutation. If you are homozygous, your body really can't handle folic acid.

As far as releasing toxins if/when you switch to L-methylfolate, that's really a convo to have with a doc who really understands MTHFR. There are some good resources online with MTHFR support and doctor lists. Perhaps try contacting Dr. Ben Lynch from MTHFR.net? I do know that proper methylation is needed to produce glutothione which helps to detoxify your body. I experienced this first hand when I moved out of a house that I found out had black mold after months of being sick. Was diagnosed a few months later with MTHFR, started Metanx, and many of my symptoms subsided (fatigue, heart palpitations, acid reflux, abdominal pain, achey joints, unstructured sleep, had a sleep study done on that last one and they had no clue why my sleep was so poor.) Within a few months I felt normal again. So based on my experience, it seemed to take a few months to normalize, however my body was very overloaded with environmental toxins.

Wishing you the best of luck and sending thoughts and prayers!

nekedfeet

I need to find out re: my mom being homo/heterozygous!! I'll definitely let you ladies know as soon as I hear something. Thank you for the help.

GoMommy

I buy them over Amazon but my dr told me i needed 4mg of folate and to take baby aspirin everyday yes @arteduc8. Although i wish it was a rx it would def be cheaper

arteduc8

I met my MFM for the first time today for a consult on my current medications and folate regimen.  He said that my prenatals and Metanx were really good and to keep taking them.  He also said that because my homocystiene levels were very well within the normal range, that I don't need to be on baby Aspirin, but that it can't hurt to stay on it.  I plan to keep taking it.  He said it actually can help around week 20 when the placenta goes into its second state where the blood vessels grow to help avoid preeclampsia.  He said that I will need to stop taking baby aspirin around week 36 so avoid bleeding issues during birth. He felt strongly that I was going to have a normal pregnancy, so here's hoping! 

I met with my regular OB after meeting with the MFM to go over things and answer more questions.  She used the handheld doppler and we got to hear the heartbeat!!! 161 BPM which she said was perfect for being almost 12 weeks.  She even said that we might not hear the heartbeat today as before 12 weeks it can be hit or miss, so we were really excited to hear it!  I'm feeling a lot more at ease now that I am nearing the 2nd trimester and everything is looking good.  Hoping all you ladies are doing well, too! 

Atlast111

Thanks for all the info. I had never heard of this condition. That's the best thing about these boards, you get to learn so much! Glad you are all getting great treatment for it now and babies are growing well.