Family Summer 14

Family Summer 14

Monday, January 25, 2010

Compound Heterozygous MTHFR - now what?

I intended this information to be viewed by my friends and family about my personal history and background with MTHFR, but then it occurred to me that others with the condition may also stumble upon my blog when googling MTHFR so I should probably provide some helpful information to them as well! Feel free to ask questions, and I will definitely try to help answer if I can=).
(Here's my disclaimer though - I am NOT a doctor or healthcare professional qualified to diagnose or make any treatment recommendations. If you have questions or concerns regarding your diagnosis or treatment, please ask your heathcare provider. Thanks!)


Compound Heterozygous MTHFR – My Personal Background
After my last miscarriage in December 2009, I requested that some additional blood work be completed to make sure we weren’t missing any potential causes of miscarriage that could be treated ahead of time, prior to additional expensive fertility treatments. Under normal circumstances this recurrent miscarriage testing (or “habitual aborter” testing as it is commonly called) won’t be covered by insurance until after the female has had at least 3 documented miscarriages. As I have only had two miscarriages, and one was ectopic and may not be considered a “true” miscarriage to some practitioners, my RE (Reproductive Endocrinologist) refused to run any additional testing on me. As I was already paying out of pocket for the IVF cycles, paying the out of pocket cost on some blood work wasn’t a big deal to me. I talked to my OB about the testing and he agreed to have the blood work run. He said that he requests the blood work be completed after one miscarriage. He said especially in a situation where a patient is spending loads of money and is using IVF to get pregnant, it makes sense to do the testing just to make sure you have a clear picture of any potential problems. I love my OB!

So, the blood work came back at the end of December and it showed that I am “Compound Heterozygous” for the MTHFR gene mutation. My homocysteine level was within normal range (although on the high end of normal – this will be important later). Essentially what this means is I have one copy of the C677T gene mutation and one copy of the A1298C gene mutation, and it inhibits my body’s ability to properly metabolize folic acid, and may also be an inherited clotting disorder (depending on homocysteine levels in my blood). I got one copy of the mutations from each parent (so both parents were heterozygous for at least one MTHFR mutation in order for me to end up compound heterozygous).

All other blood work came back normal (Anti-Thrombin, Cardiolipin, Lupus, Plasminogen Activator Inhibitor, Factor V Leiden, and Protein C&S).

Now you may be wondering what this all means! Brilliant! Let me try to fill you in.

Different MTHFR Mutations
With MTHFR, there are two different genes identified for this mutation, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous." According to the information I have found, the order of potential severity from most to least is:

1. C677T & C677T (Two C Copies - C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
3. C677T (One C Copy - C677T Heterozygous)
4. A1298C & A1298C (Two A Copies - A1298C Homozygous)
5. A1298C (One A Copy - A1298C Heterozygous)

The heterozygous MTHFR mutation is relatively common in the general population. Approximately 44% of the population is heterozygous (having one copy of one of genes) and another approximate 12% are homozygous for the MTHFR mutation (two copies of either C677T or two copies of A1298A). Compound heterozygous and homozygous MTHFR have the highest incidences of being linked to implantation failure, late term miscarriages, specific birth defects and overall vascular health. (See also supporting study)

What does the MTHFR gene do?
Essentially the MTHFR gene takes the folate that you consume from food or vitamins, and breaks it down into a metabolized form that can be used by your cells to complete protein synthesis (the building blocks of DNA). More specifically, the gene MTHFR (Methylenetetrahydofolate Reductase) encodes the protein MTHFR. Its job is to convert one form of folate (5,10- Methylenetetrahydofolate) to another form of folate (5-Methyltetrahydrofolate). 5-Methyltetrahydrofolate is used to convert Homocysteine (a "bad" amino acid) to Methionine (a "good" amino acid). So, if MTHFR is not doing its job as well, homocysteine will not be converted to Methionine as efficiently and the homocysteine will be elevated in patient’s plasma. Elevated homocysteine has been associated with a variety of diseases (including but not limited to cardiovascular disease, stroke, Alzheimer's, recurrent miscarriage, etc.) and can also indicate a higher risk of DVT (deep vein thrombosis) or blood clots (hence MTHFR is considered an inherited clotting disorder in patients with elevated homocysteine levels).

My homocysteine level was checked when the recurrent miscarriage blood work was completed (I was not pregnant at the time). My homocysteine level was within normal ranges at the time it was drawn (although it was on the high end of normal). I will likely request that my homocysteine level be drawn again once I become pregnant to ensure that everything is still normal=). In the meantime I have been switched from a “normal” prescription prenatal vitamin to a special prescription prenatal vitamin (Neevo) containing the metabolized form of folate that my body can actually use (5-MHTR). Additionally my OB has recommended that I start taking an 81 mg baby aspirin every day, and I will continue taking said baby aspirin all the way through pregnancy.

Is there any research? What are the treatments?
Some research has been completed on MTHFR, particularly by Dr. Alan Beer, a Reproductive Immunologist (RI) who passed away in 2006 (and his colleagues). Dr. Beer had a specific protocol that he used when treating ladies with homozygous or compound heterozygous MTHFR, particularly with elevated/abnormal homocysteine levels (although it doesn’t appear that elevated or abnormal homocysteine levels were required to use his treatment protocol during fertility treatments – I am currently trying to find the article of Dr. Beer’s that I read that shows this). I have joined a yahoo group with other ladies with MTHFR, endometriosis and other immune conditions, and being a member of the group has given me access to piles of research, information, and even some protocols used by patients of the Beer Center. From what I can gather, Dr. Beer would begin Lovenox (40mg/once a day) on cycle day 6 of a fertility cycle (particularly IVF) and would continue the Lovenox throughout the cycle. If pregnancy is confirmed, this dosage would probably be increased (Typically up to 40mg/twice a day, but potentially higher doses can be prescribed – up 60 mg/twice a day- dependent upon blood work results and homocysteine levels) and usage continues throughout pregnancy. Approximately two to four weeks prior to birth, the patient is usually converted to Heparin and continues to take an anti- coagulant for another 6 weeks postpartum.

Dr. Beer’s Center for Reproductive Immunology and Genetics website is a wonderful source of information and can be accessed here.  This is a specific link to information regarding inherited and acquired thrombophilias. You can go backwards through the site for more general information. This page speaks to MTHFR and other inherited an acquired clotting disorders.

Many doctors prescribe “Folgard” or “Metanx” to ladies with MTHFR gene mutations, which is a prescription vitamin supplement containing very high levels of folic acid, B12 and B6. To put these amounts into perspective, the average multivitamin contains 400 mcgs of Folic Acid , and most decent prenatals have 800mcg of Folic Acid (about 200% of the normal daily value). It is recommended to take 1 -2.2 mg Folgard or Metanx per mutation. Those that are compound heterozygous and those that are homozygous for the mutation are recommended to take nearly 4.5-5mg of Folic Acid/B vitamins (or 2 Folgard or Metanx) (12 times the average multi-vitamin and 6 times more than prenatals)!

However, recent research has indicated the importance of supplementing with 5-MTHF instead of the actual folic acid that is provided in both the Folgard and Metanx. 5-MTHF, is a bioactive form of folate. Although synthetic folic acid is the common form of "folate" used for supplementation and food fortification, it must be converted to 5-methyltetrahydrofolate (5-MTHF) by the intestines and liver to become biologically useful to cells.

The prenatal vitamin I am taking now, Neevo, contains 5-MTHF. I don’t know if it really is better or not, but that’s what my OB wanted me to do, so I’m running with it! It is also recommended that patients with MTHFR begin taking a low dose or “baby” aspirin (81 mgs) once a day, every day, for the rest of their lives.

What does this mean for me?
I have spoken with several RE’s, and so far, no one has suggested that I take lovonox during my upcoming IVF cycle or after a pregnancy is confirmed. I will check with my OB after we successfully achieve pregnancy again. Several other ladies with compound heterozygous MTHFR and seemingly normal homocysteine levels informed me that after they achieved pregnancy that their RE’s gave them the option to continue taking baby aspirin or switch to lovonox, but due to the risks of lovonox, they chose to stay on the baby aspirin. So far their pregnancies are progressing wonderfully! This is wonderful news! I would definitely give myself a daily shot or two of lovonox or heparin if it meant I would have a happy healthy baby (I will do nearly ANYTHING for a happy healthy baby!), but if it’s not necessary I have no desire to jab myself in the abdomen twice a day either!!

There is a lot more information out there online regarding MTHFR. A diagnosis of a MTHFR gene mutation and subsequent treatment still seems to be pretty controversial, and testing has only become common in the last 5-7 years or so. Some physicians recommend no “treatment” for the mutation, and others will treat with increased doses of folic acid (because extra folic acid “can’t hurt”). Some providers may recommend baby aspirin, and others may not. Still others may recommend lovonox or heparin during a fertility cycle and during pregnancy, while others will recommend against such treatments stating that they are unnecessary and offer more of a risk than a benefit. I’m quite sure that as more research on MTHFR is completed, we will get better treatment recommendations. If only we had the 10 years to wait for that research to be completed!

If you think your physician isn’t being aggressive enough with treatment, please don’t hesitate to seek out a second opinion or even see a reproductive immunologist or a genetic counselor. You are your #1 advocate!

*Update*
Just in case you may be curious what the recurrent miscarriage/habitual aborter workup will run you - my insurance was charged $1026 for all 9 tests. I have good insurance - I only had to pay about $40 out of pocket - but it still would have been worth it to me to have the testing done even if I would have had to pay the entire amount out of pocket. It really is worth asking your doctor about.

I wrote this post in January of 2010. Since that time I have had a successful twin pregnancy and gave birth to two beautiful little baby girls on October 13, 2010 as well as a successful singleton pregnancy and gave birth to a beautiful baby boy on June 12, 2012.   I took Neevo prenatal (with the metabolized form of folic acid) and baby aspirin throughout my entire pregnancy for both pregnancies. It CAN work. One of my fellow bloggers and commenters on this post also had a successful twin pregnancy and gave birth to her boy/girl twins a few weeks after I did. She is homozygous for the C677T mutation and was on lovonox injections and metanx (among other things for her other clotting conditions). My point being - with the right treatment - you very well may be able to have the baby you have always dreamed of. Please make sure to explore your options, push for the testing you believe that you need, and above all, don't give up!!

**Update 10/30/13**
Since my original posting, there have been several occurrences where people have been unable to ascertain Neevo due to manufacturing changes, or the copays have simply been too high for people to be able to afford it.  I have been taking Neevo DHA again for the last 18 months, and I want to take a moment to share with you a more cost effective option with you to get the Neevo you need if your insurance doesn't cover it:
The maker of Neevo is Pam Laboratories
If you click on the Neevo link on the Pam Laboratories site, then click on the "ordering information" tab you will see information about ordering Neevo through "Brand Direct Health".  I would highly encourage you check out this ordering option.  I just refilled my Neevo DHA prescription for 90 days (with GOOD federal insurance) through Hy-Vee, a local grocery store and one of the few places in town that carries Neevo, and my copay was still $150!  When I had called Brand Direct Health previously (a year+ ago) they had quoted me $114 for a 90 day supply, and they will ship it direct to your door! Your OB just needs to fax in the 90 day prescription.  I would highly encourage you to check this option out.  Neevo IS still available!

Also, for those of you who are reading this blog who are NOT trying to get pregnant, if you go to the Pam Laboratories website you will see that they are also the makers of Metanx AND Deplin... you can also order these products instead of the prenatal through Brand Direct Health for substantial savings.  Remember, MTHFR is a lifelong issue, that you will need to treat forever, not only when you are pregnant or lactating. 

God bless ladies, and Good Luck!
.

69 comments:

  1. I have this one - C677T & C677T (Two C Copies - C677T Homozygous)
    Great for me, lol.
    So do you feel better on the new prenatal? I feel a bit better, more energy, less lathargic on the metnax i take which is the broken down folic acid and mega B's. Its probably all in my head tho :-)
    Are you taking the lovenox this IVF or waiting til the BFP?
    I am taking it the whole time even with the last IUI but thats prob cuz i have the worst of the worst MTHFR and then another 2 other blood clotting issues, or at least thats what i think they are doing with me. Pretty soon my entire body will be a bruise cuz my blood will be so thin, lol.

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  2. Meg

    fantastic summary! congrats on the pregnancy! are you taking lovenox?

    Robyn

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  3. Hi Robyn -
    Thanks so much for the congrats! No, I'm not currently taking lovenox. My OB decided that he wasn't going to add it unless I was having problems. I was spotting a lot during the first 8 weeks of pregnancy just taking the baby aspirin, so I acutally think he was afraid to add something that could increase my bleeding risk. So far the baby aspirin and special prenatal have really done the trick. Both babies have been growing just perfectly - they are growing at the same rate - and are measuring right on. It's bizarre how some people can get away with just the BA and how some need the lovenox. I thought for sure I would need the lovenox, but I guess not! I feel very blessed to have made it this far. Thanks for your comment=).

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  4. Wow, you just summed up about everything the doctor told me after I had my tests done for my two miscarriages. I found your blog by trying to research metanx since I have been prescribed that and a baby aspirin. I start IVF for the first time next month so here's hoping that all this extra stuff actually helps. Thank you so much for the blog post, it helped immensely!

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  5. A friend from a baby board sent me a link to this blog entry. I just learned I am the same type MTHFR as you. Thanks for such a comprehensive picture...I have lost two babies since July, and my hubby is unsure if he wants to try again. I'm getting my Neevo this week (Right now I take 4 extra Folic Acids, prenatal and a B-complex, + Asprin). I'm wondering how many Neevo I'll have to take.

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    1. folic acid and b complex have the two things that DO NOT work for mthfr. The folate and b that need to be taken are the specific forms called 5 methylfolate and methylcobalamine :)

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    2. Jarrow B Right B Complex has the folate form of folic acid and the methylcobalamin form of B12, as well as the Pyridoxal 5 Phosphate form of B6.

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  6. Hi Sarah! Thanks for dropping by! I am so sorry for your losses. They are so hard! I am so glad that you had the testing done and are going to be starting on the Neevo. I kid you not, that has made ALL the difference for me. Just one Neevo a day allowed me to have a successful pregnancy and I feel SO much better too! I have a ton more energy, and I just feel good. I was actually off the Neevo for about a month after I had the girlies. My OB simply refused to refill it saying it wasn't necessary (that's a different post about the importance of being your own advocate). Long story short, I got pregnant while I wasn't taking the Neevo, and I promptly miscarried at 6 weeks. UGH. I will never make that mistake again!
    Point being, I really believe that the Neevo can help you have a successful pregnancy. I wish you the best of luck!! And if you have any questions, please don't hesitate to ask!

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  7. Thanks Miss Megan. I'm sorry for your recent loss. I actually started following your blog, I love reading other mama blogs :) I cried when I read your post, but I'm thankful you shared your story b/c now I know to be my own advocate and stay on the Neevo forever! God bless, and I look forward to reading more.

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  8. Wow, this blog post has helped me understand my mutation so much better!
    I've had 4 confirmed early losses since August 2010. We've had a successful pregnancy before trying for #2.
    I am compound heterozygous and take baby aspirin and folgard. I'll talk to my doc about the Neevo when I see him next. Thanks so much!!!!

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  9. Jessica - so glad I could help!! So sorry about your losses. I hope you get a sticky bean very soon! I think the Neevo helped me a ton! Good luck!

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  10. Hi, just a question since you've traveled this path before. I've been reading a lot, and it seems that B12 increases the blood's clotting ability, which is sort of what we want to avoid, and it's why we take the baby aspirin, right? So do those two things cancel each other out?

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  11. Hi! My name is Micha. I'm a compound heterozygous mthfr. I've had four miscarriages and am currently pregnant..almost week eleven! (Ive never made it past week seven.) Ive been taking the folgard since pregnancy was first confirmed. Im on week three of a subchorial bleed which scared me near to death but it is getting better. My Matenal Fetal Medicine team hasnt prescribed baby aspirin or lovenox..but my homocysteine levels were on the lower end of normal last lab. This was probably a good thing since I developed the bleed at week eight. I'm 33 and holding my breath..this may be my last chance. Good luck ladies!
    Micha

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  12. Hi Micha! Thanks for commenting, and congratulations on your pregnancy!! Week 11! YAY! Good for you! I had a SCH with the girls too, except mine was from 14 weeks- 16 weeks or so. Agreed, it's SUPER scary. So glad it is getting better! FX that little peanut holds on tight and you will have a beautiful baby in your arms in another 6-7 months!!! Thanks for sharing your story, and good luck!

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  13. I am also compound heterozygous. I am so glad that I found this blog! I just recently had my 2nd miscarriage. My first pregnancy was with twins and I was 13weeks. So, they did the whole blood work and found that i had the MTHFR. However, the high risk pregnancy doctor and hematologists said I didn't need to do anything different because my homocysteine levels were fine. My OBGYN decided to up my folic acid, and sure enough I had another miscarriage. This time I was only 6weeks, but it still makes me wonder if I should be on more. I have never heard of Neevo before and I will see what my doctor thinks. Any advice on what else I should do? I am ready to try again because there is nothing I want more than a baby and I don't wanna give up!

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    1. My grand child is compound .....any problems when you were young?

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  14. Hi Amy! So sorry about your miscarriages. My suggestion would be to definitely talk to your OB about Neevo. It's a once a day prenatal that requires a prescription (like many prenatals, so that's no big deal, and it's available basically at any pharmacy). I have specifically requested to my OB that I stay on brand name Neevo only, there is a generic, but I don't know, I had read some information indicating that the 5-MTHF was made in a different country where the standards for making the 5-MTHF weren't the same in the generic as they were in the the brand name. It could have been a totally bogus claim, but true or not, I wasn't willing to risk it!
    I would also start yourself on a baby aspirin a day (81 mg aspirin - you can get them anywhere - Target, the drug store, etc.), and of course extra folic acid won't hurt. Right now I am taking the Neevo, Folbee, and a baby aspirin. I am pregnant with baby #3 (12 weeks now - ON OUR OWN!!) and so far so good! So I think my regiment has worked well for me. I hope it works for you too! Remember that YOU are your #1 advocate...don't be afraid to ask questions and do what is best for you! Good luck hun!

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    1. IMHO, extra "folic acid" can hurt. Please see the link I posted below. There is some more recent research that has led to the theory that the increase in trouble with the MTHFR mutation has to do with the ridiculous amount of folic acid in our diet as it's been added to everything.

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  15. Congrats on your pregnancy!! :) Especially on your own. I have a friend that just got pregnant from her second round of IVF. She is not far behind you. Thank you so much for the information! It really does help. I am going to a high risk pregnancy doctor on Wednesday, and now I feel like I have lots of information and questions to ask. What NeevoDHA?

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    1. Neevo DHA is just the Neevo prenatal with DHA already added in. It still has the metabolized folic acid you would need, it just has DHA too. I actually wasn't able to tolerate the Neevo DHA so I had to switch back to "plain" Neevo. To each their own I guess =). Good luck hun!

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  16. Hi Megan,
    This information is very helpful, so thank you for consolidating it all and also letting us know how you were successful. I have had 3 miscarriages and I am compound heterozygous as well. I take a prenatal with high folic acid and Dha, and I also take Folgard. I'm going to ask my RE for the prenatal you mentioned, but my question for you is what was the dosage of folbee you took in conjunction with the prenatal when you were TTC?
    Thank you so much!
    Molly

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    1. Hi Molly! Thanks for commenting. You know, I checked my prescription bottle and the prescription on file, and neither have an actual doseage for the folbee (like X # of mg). Sorry! I just take one pill per day, along with the Neevo and baby aspirin. They do have NeevoDHA that has the DHA already mixed in (probably similar to your current prenatal), but I actually take the regular Neevo and a separate DHA capsule because for some reason I couldn't tolerate the Neevo DHA - weird! Good luck hun!!

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    2. Great! Thank you, Megan. I think Folgard is basically Folbee with a different name. I am going to a new RE for a second opinion on my unexplained infertility. I feel like this mthfr hasn't been taken seriously enough by my other RE...Just my gut instinct. We'll see. Thanks again for the info, and for giving me hope. :)

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  17. HI Megan,

    Reading your success story has giving me so much hope. I am compound heterozygous just like you. I have suffered two miscarriages and now i'm 8 weeks i started folgard twice a day along with baby aspirin and prenatal vitamin with dha when i found out at 4 weeks. so far so good i got to see a heartbeat last week for the first time. my miscarriages were always before 6 weeks so never got this far. I hope all goes well as it did for you. i'm so worried.

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    1. Hang in there! I know this part of pregnancy is SO scary. It's all scary actually. It gets a little better, but I found myself countint down the days until the girls were here instead of enjoying being pregnant. I just think it's the nature of the beast, but I totally get it. After miscarrying multiple times I had the hardest time believing that I would every actually carry a pregnancy to term and have a take home baby at the end of the day. The fact that you have already seen a heartbeat during this pregnancy and that is something you haven't seen previously is an AWESOME sign. I am so hopeful for you that this is THE one for you!!! (HUGS)!

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  18. Hi Megan,

    Thank you so much for putting together this blog post. I am also compound heterozygous (with normal homocysteine levels) and have had 2 miscarriages before the 6wk point in the past 4 months (with a healthy birth in 1/2010), so I really feel that I need to try something even though doctors don't necessarily agree on the protocol. Researching/compiling the information has been a challenge, but your blog puts all that I've found in one place in a really clear and concise manner. I pray your pregnancy is going well! Good luck to you and thank you again! Deanna

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  19. Thanks for your excellent post! I've always suspected MTHFR (both moms have issues on either side) but didn't test until after my third child...I'm compound C. My homocysteine levels are in normal range, and not too high either. I'm hoping it was my diet all along. :(

    Anyways, I love your post and will share it w/ my friends!

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  20. I came across your blog through a link on Mamas and Babies FB page. I have a couple of corrections. Metanx and Neevo both have l-methylfolate in them which is close to 5-MTHF but not exactly the same thing. L-methylfolate is the patented version of the active form of folate whereas 5-MTHF is the over the counter non-patented version. They do the same thing and are equally as good. You are right about Folgard though, it's total junk to those of us who have two mutations. For those looking for more information about MTHFR, I highly recommend viewing Dr. Rawlins' lectures and reviewing his nutritional protocol (in the link below his photo): http://www.methyl-life.com/a-doctor-explains.html I am truly blessed to live in the same town as Dr. Rawlins and to have been able to consult him with my first pregnancy.

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  21. maybe this is why when I was on a very high dose of methylB12 I got pg and it stuck at least until the 12th-ish week, because when the body uses Methyl-B12, one of the biggest things it does is methylate THF in the 5-MTHF process! Looks like I have another piece of the puzzle, thanks for sharing!

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  22. Thank you so much for starting this blog. It has great information and I really think more and more that MTHFR mutations need to be addressed when testing for recurrent P/L. I have had 2 m/c and 1 CP. I have been on Folgard for years with no success. I just heard that L-methyfolate is better for people with MTHFR mutations. It's too bad that so many doctors dismiss MTHFR mutations and the possible link between recurrent m/c. It's very difficult to find a doctor who is willing to look into it further. There are so many women online that say they've had recurrent P/L and have an MTHFR mutation. I just got a prescription for NeevoDHA and have completely stopped Folgard due to the risk of too much synthetic folic acid not being metabolized in people with MTHFR mutations. And all I can say ladies, even if doctors dismiss your diagnosis as nothing, they haven't had to struggle with recurrent P/L and this mutation is a fairly new finding - it always takes the medical community a bit of time to accept a new idea. Trust your gut on this one. Good luck!

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  23. Hi,
    I ran across your site doing research about my condition compound / hetro. I am 52 and have many health issues because of this. I have no children, no miscarriages either. This is also called the autism gene and in my research for my grandmother, mother, sister, niece and my health problems I run across site after site where everyones concern is anout being able to have a baby/babies. This genetic mutation has affected 4 generations of our family in a very negative way. Horrible blood clotting (this is why your prescibed blood thinners, as the tiny blood vessels become clogged, that feed the baby), pulmonary embolisms, many DVTs, ADHD (autism spectrum), depression, anxiety, early age stroke, my mother had 12 miscariages (back then they didnt know what to do but did know that with blood clotting no birth control pills). I've noticed that on forums, blogs, responses etc that none of this gets brought up much if they are geared towards pregnancy. My conclution to this is that noone searches about what other problems this mutation causes because most are young enough that the full brunt hasnt hit them or their children havent received the genetic challenge. It would be in everyones best interest to do furthur research for themselves and children. A happy home is not one that consist of depressed, undiagnosed ADD/ADHD, anxiety ridden people with a multitude of health problems. The more I research this, especially Autism that has been connected to vaccines. I now realise that we also have the issue of not being able to dump toxins. That the children are showing signs of autism after they are vaccinated. That the reason for the higher rate of autism is that women would normally miscarry most children with this. This doesnt happen as often now because of the folate and blood thinner. Not to rain on everyones baby shower, but this genetic issue causes much more than miscarriage.

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    1. good post, and interestingly, one of the research articles I read said that 98 percent of kids with autism also have mthfr. That is a startling number. Yes, while fertility seems to be a large component of the mthfr, the other problems are huge as well. If you have this disorder, have your kids tested, and figure out how to supplement from early on, hopefully helping their bodies function properly from the get go. Don't wait until all the autism spectrum or depression or clotting issues become a reality :)

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    2. I have MTHFR and am compound heterozygous. I had a successful pregnancy early in life followed by 3 miscarriages in the second trimester. Finally 16 years later after many tests and a wonderful OB I gave birth to my second son. My 1st son has no issues while my second son has autism. He is extremely high functioning and I wouldn't change him or the fact that I had him. I didn't have all of this wonderful information about MTHFR or the treatments back then. Having a baby is the most wonderful thing and I pray you all have happy, healthy babies. Please research all medications and the affects they may have on your unborn babies. Best wishes to you all!

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  24. Miss Megan, Thank you so much for this excellent summary of MTHFR! It really is helpful. I was just diagnosed with the same MTHFR combination you have. I'm currently on Thorne Prenatals (similar to Neevo, but not prescription) and a baby aspirin daily.

    What sort of baby aspirin are you taking? I'm hearing that the enteric-coated tablets may not be effective as the chewables, so just wondered what worked for you.

    (Clint is my husband's "alter ego," just in case you wondered why a guy was writing this. :) - Claire

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  25. Thank you Megan! I am scheduled for a d&c tomorrow for an early miscarriage (should be 8 weeks, only 6 weeks) and my dr sprung this on me today (I had been previously tested but they said I had one gene mutation-perhaps they didn't test for both) but I have exactly what you have-one of each although I don't know any of the other levels. Weird thing is, I have 3 perfectly healthy children that were conceived with little effort. What I can't figure out is that, if that is true, maybe my mutations aren't exhibiting and that this m/c was a fluke (I had one other loss at 10 weeks back in 2007 thats why I had the previous bloodwork done and a chemical this past December)? I was taking baby asprin and extra folic acid as directed. Not sure what all this means except that I will be scheduling with a high risk ob to see if I need further testing before ttc our 4th and last! Oh and it took us 14 months to get pregnant this time whereas the others were within a month or two of trying!

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    1. ...if you have mthfr that means your body is not methylating the folate you ingest properly, and when your body is not metabolizng properly, the body is "missing" things, whether you see immediate results of that or not :) If you are not taking 5 methylfolate you might do some research to figure out how to do that, to support what is not happening properly in your body :)

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  26. Great blog, great information. Hopefully there will be much more research done, confirming the treatment needed. Personally, I think it's all very overwhelming and since one researcher (or doc) recommends one thing and the next something else, that's a bit tedious to try to decipher. And, most docs hardly know what this disorder is let alone how to treat it.

    I think the most vital thing to realize is that folic acid is not the cure. One thing I wonder is if the people who are helped with the "folic acid and baby aspirin" treatment are solving the blood clotting problem with the aspirin, thereby having successful pregnancies? Maybe the folic acid is just a peripheral non entity? Or maybe the extra folic acid allows a bit more "methlyation" to happen (methylation is happening insufficiently to greater and lesser degrees with all folks with mthfr)and the combo of both results in pregnancies? Who knows :)

    Anyway, the gist of it is, the body isn't methylating right, so giving a substance (folic acid) that the body cannot convert (that's the problem with mthfr) is not supplementing properly. Methly folate is the converted form that needs to be taken, and all research indicates that it needs to be 5 methylfolate. Also, any b supplementation (most prenatal and other vitamins have b's) needs to be methylcobalamine form and NOT cyanocobalmin.

    God bless you and your precious family!

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  27. Hi i have a question for you ! I am Compound Heterozygous and I have 3 girls and i am not sure if i should get them tested for mthfr as one is a little women now. Have you thought about if u will test ur girls for mthfr?

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    1. Hi Tascher - Yes, I would like to have all three of my peanuts tested. The pediatrician previously didn't think it was necessary, but I disagree. We switched pediatricians this year, so I will ask him his thoughts when we go in in a couple of weeks =).
      Did you decide whether or not to test your little ladies?

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  28. I certainly would recommend that anyone with mthfr test their children. We have 3 children (who are now 19,18,17) and discovered the genetic mutation in our 19 year old first, when hunting down causes for worsening fibromyalgia/chronic fatigue/ ish problems. Since then we have tested all but my son and he's getting tested this week. So far 2 have the 677 mutation, and one daughter and I are both compound hetero. I never had any fertility issues (got pregnant easily) but looking back can see that I have probably had some mthfr type symptoms and results, albeit not severe ones, for years. My daughter has had lots of worsening health issues over the years which were not evident before about the age of 11 ish (the stress of puberty?) and it's been downhill ever since.

    Does mthfr show worsening symptoms over the years because of the cumulative and building up of side effects of all that isn't functioning properly in the body?

    Mthfr can result in an unfortunate myriad of health problems from depression to clotting disorders, surgical risk for anesthesia (nitrous oxide too) to risk for birth defects as well as fertility issues. Migraines, digestive issues (gluten/etc.) and neurological problems (parkinsons, alzheimers), sensitivities and allergies (the body is not able to detoxify at a cellular level properly) and more are linked to this mthfr. Obviously, if there is a genetic mutation things are not and will not fuction as they should. If one knew they had mthfr from an early age, one could supplement with mehtylfolate/proper b vitamins (methylcobalmin)/etc. and hopefully help the body function properly, and thereby hopefully preventing some of the issues that are common for mthfr.

    :)

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    1. Were any of your children diagnosed young? My son was just diagnosed with the mutation heterozygous but not sure if it's compound or not. Researching right now and we have a few appointments to see specialists. He's 9mo.

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    2. Evy, did they give you any suggestions on how you could have supplemented your kiddos by chance?
      Thanks so much for sharing your experiences.

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  29. Hello,
    I love all of the info. Thanks everyone for adding. My story is that i have had 8 IUI's and three of these have been miscarriages. I finally asked my doctor to run tests. It came back that I was compound heterozygous, but my Homocysteine was within the good range. I asked my dr. what i should do and he said that since it was normal and my pre-natal has 1mg of folate i should be ok. My issue is that i am allergic to baby aspirin....is there anything else you guys would suggest? Not sure if i should push my dr.

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  30. Hi all. I am 55 and just found out last Sept I have compound MTHFR defects.(C677T & A1298C) From a large extended family and I am now seeing the links and common issues within my family. As you get older you are at risk for MANY chronic diseases and issues. Have your children tested so you can take preventive action. My new gyno ordered tests because although according to my GP I am in great health I knew something was wrong.
    1.) Severe Pain (pre-menapuase) during menastration. No visible cause for this. In 30 years Nothing helped even surgeries. (ablation/D&C) Till my new gyno gave me Progesterone, the wonder drug. If you have MTHFR you should NOT take estrogen. I read that is a prescription for a stroke.
    2.) Post menopause depression
    3.) 2 eye strokes in past 3 years. (Just found out 2 aunts also have bleeding in eyes, and one is blind.)
    4.) Tingling and numbness in limbs. Past 8 years I just knew I had carpal tunnel. 3 different neurologist say not so. Last visit revealed very weak core muscles. After starting mthylfolate the Carpal Tunnel pain/weakness is GONE no matter how much I use a PC/mouse during the day.
    5. Many women in our family had issues with Placental abruptia including my mother and myself. Luckily we did not lose our babies.
    I see common issues in my family. Also see symptoms in my sons, including tongue tied, adhd, executive disorder, heart murmer, gastro disorder like celiac. The lack of info and finding doctors who understand this is frustrating.

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    1. I totally agree with you! I think it's sad that some of the best information out there comes from blogs and from others with the same condition who can help you navigate the treatment options. I'm all for being your own advocate, but it's HARD to get anywhere when you can't find physicians or other health care workers who have a good knowledge of MTHFR effects and treatments. I need to go back and find it, but there was a GREAT Youtube video on MTHFR by an OB on the coast....he had a really cool flowchart too with causes and treatments. Let me see if I can find it. That would be good information to have on this blog too!
      Thanks for your insight and input AlwaysLearning!

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  31. Instead of baby aspirin take Nattokinase supplements, available on Amazon. My friend has severe clotting disorder and this was recommended by her doctor.

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  32. Miss Megan,

    When did you stop taking baby aspirin prior to delivery? My midwife recommends stopping a month before the due date - but I don't know that taking nothing is wise. Have thought of substituting with nattokinase, which AlwaysLearning has suggested above. Apparently its effects are much shorter term (hours instead of days). Any thoughts?

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    1. Actually, I was still taking baby aspirin when I had the girls. I had pre-eclampsia and was delivered early. I didn't have a chance to stop taking the baby aspirin. I had taken in within 24 hours of delivery.
      With my son, my OB said there was no need to stop the baby aspirin. My midwife friend suggested stopping 3 days before, but my OB said not to worry about it. I personally didn't have any bleeding issues with either delivery.
      How soon are you due Claire?! I'm so excited for you!!

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  33. Curious if you've had your children tested and if so how that's being treated and managed. I have not been tested although I suffered two miscarriages in between my two children. My youngest (9mo) just tested positive heterozygous (not sure if compound or not and which version).

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    1. Hey Miranda, I haven't had my kids tested. I talked to the girls pediatrician about it several times the first year and she told me that they wouldn't supplement them with anything anyway. I didn't like that as an answer, but I didn't know where else to turn (other than the internet, of course). With my son, we actually did switch pediatricians (to my pediatrician when I was a kid!) and I haven't had the discussion with him yet. Hudson will have his one year check up in a couple of weeks, so I will make sure to bring it up then. I REALLY want to get the kids started on whatever supplements they should be taking to combat this. The problem is, I can't find jack online for information regarding dosages of supplements to combat MTHFR in children...it's only adults.
      So, please share, why did you have your son tested? Was he exhibiting signs/symptoms of something that triggered the pediatrician to have him tested? I think we all need to be cognizant of the effects of MTHFR on our kiddos, and we need to be treating it BEFORE it becomes a problem. You are on top of it Miranda!

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    2. my frustration is that I never was encouraged to find out why I lost a baby at week 20! Doctor told me that if we conceived we would again since it took us 3 years after that miscarriage to conceive again and were getting worried that we wouldn't. We later went on to have two other children. Third child reacted to MMR vaccination Ive recently read that MTHFR's can have a negative reaction to the metals in that vaccination! Frustrated because that was about the time in the news they were showing slight connection with vaccinations and autism. My son change irreversibly from that point. He is a high functioning autistic or ADD kid. Pick your poison. Very frustrated not knowing this in my youth, and child bearing years. If I'd known that I am compound heterozygous I would have learned more and proceeded more cautiously.

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  34. Thanks for writing about this. Ive had 3 miscarriages and my doctor is about to test my thyroid, mthfr,progesterone. Ive tested with 23andme and it says I am homozygous for C677T. I am going to ask my OB about NeevoDHA , I think that would be a great substitute for my prenatal and I would also take a baby aspirin as well as progesterone if I need it. Were taking a little break seeing as Ive had 3 miscarriages in 7months and my body and mind need a rest. Im taking this time to do testing and prepare my body the best I can for my next pregnancy.

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  35. I am reading this with tears in my eyes!! I was diagnosed with the compound hetero mutations last year after my 3rd miscarriage. This one was at 17 weeks and we were devastated. My OB referred me to a hematologist but he didn't seem to think it was a big deal! I would love to have another baby. I am in Omaha and would love to hear what doctors you would recommend!!! please contact me if you can. hlake78@hotmail.com

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    1. Heather, I'm so sorry for your losses! I sent you an email, please let me know if you don't receive it! Hugs!

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    2. Hi Heather, I'm from near Omaha. I had a child born at 24 weeks who only lived for 10 days and 12 miscarriages before I finally had my two kiddos. I went to Dr. Maud Doherty for both of my children in 1996 thru 2000. I have had several friends go to her with much success as well. I know I wouldn't have children without her, I can't say enough good things about her.
      I had a hysterectomy when I was 27 due to recurrent endometriosis and it wasn't until several years later when I was trying new Hormone Replacement Therapy that the Dr I was going to tested me for this and told me I had I had the MTHFR mutation the Dr said she couldn't help me because I had it and sent me on my way. I've been trying to find a Dr. to help with this and my early menopause issues due to the hysterectomy, what a pain. I would love to here any recommendations for Drs in Omaha as well.

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    3. Oh Angel! SO sorry for your losses!
      I would second Dr. Doherty in Omaha for anyone who is trying to get pregnant. We too used Maud for our sweet girls.=) The only negative we found with Maud was that she totally didn't buy into my MTHFR issues. She told me testing was unnecessary, but then also refused to treat me for it once I got the results back confirming I was compound heterozygous. She wouldn't even write me a script for Neevo, and advised me against taking baby aspirin. All of the testing and treatment came from my OB, Dr. Jorge Sotolongo with Metro OB/GYN. Maud can get you pregnant, and she's amazingly good at that, but she wasn't good at keeping me pregnant...just my experience of course. I started seeing my OB immediately after confirming pregnancies, and would follow up with both my OB and Maud, until week 12 when Maud would refer back to the OB. There's such a need for OB's or other specialists that actually understand and can treat MTHFR. I have my annual exam coming up and hope to talk to my OB about long term expectations and recommendations for MTHFR and see what his thoughts are. I've tried talking to my pediatrician as well about the effects of MTHFR on my kids, and he has no idea what I am even talking about and is sure that it will have no effect on my children....so, I'm on the pedi search too if anyone knows of a good one! LOL!
      I am curious though Angel...they couldn't do any hormone replacement therapy because of the MTHFR? Dumb question of the day perhaps, but why?

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  36. So happy to have found this blog. I am currently going through insurance appeals for testing for MTHFR, Factor V and Factor II... which is how I found this blog. I had three early losses in 12 months (no successful pregnancies). Got tested after the third since insurance "requires" this and despite waiting for that third loss, now I am being billed for those three tests $935 dollars later.

    I ended up having the MTHFR mutation- I am hypercoagulable. I am currently on baby aspirin, B complex, 1 mg of folate (which I am waiting to hear from OB if I should really be on 5 MTHF or Folic acid as I am seeing on many blogs and research that extra folic acid is not helpful with MTHFR), and a prenatal vitamin. What a journey this has been so far... very frustrating!

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  37. Hi, I was diagnosed with MTHFR Mutation: Compound Heterozygote during my pregnancy. I didn't have a miscarriage, but my baby had Gastroschisis (born with intestines on the outside of belly). I was just curious if you thought I should be taking anything for this since I am no longer pregnant and what I should take. I was on Metanx during my pregnancy, but insurance wouldn't cover it because it wasn't life threatening so I stopped taking it after my son was born.

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    1. I still take the Neevo and baby aspirin every day, even though I'm not pregnant. It should help protect against stroke, DVT, etc.. My OB told me that I would need to take both every day for the rest of my life. It's expensive, but I do feel better when I take the Neevo vs not. =). Good luck!

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  38. My grand child is compound heterozygous since 3 months of age. Dr blowing me off, she has multiple (20 +) diagnosis and Dr acts as if nothing is wrong. Diagnosis include recurrent DVT, portal vein thrombosis, migraines. ...need help.....have you or anyone reading this had any problems from childhood?

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    1. Ashe -
      I'm sorry, I don't have any experience from childhood. Thank God, my children haven't had any issues (yet) from the MTHFR. I would advocate like crazy for her! Don't stop until you find a provider who will listen. I have asked multiple pediatricians and they know nothing about MTHFR and really don't think it is a big deal at all. I think that is simply unacceptable. If nothing else, I would be asking the pediatrician about supplementing the metabolized form of folic acid, just like they do for adults. This should help solve the problem if MTHFR is the only issue. The only problem is, there's no dosing indication for children...so it would be hard to know what dose she needs. I can't help but think that the metabolize folic acid would help...the trade name is Deplin. It is used for several purposes, one of which is an adjunct to antidepressant therapy...hence they express using it with extreme caution in children. Something has got to help her! I am so sorry you are going through this with her! Please keep us updated!

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  39. Thank you for posting this information. It gives me a lot of hope and I have at least read this 3 times over :) Also, thank you so much for any input you can offer. So here is my story ...

    I had 3 MCs back in 2011, one at home naturally @5 weeks and the other two @7 weeks or so. I went through D&C twice in which the tissue was send out for testing and they found chromosomal abnormalities both times around. Upon further testing, I was found to have 2 mutations of MTHFR (Compound heterozgous A1298C + C677T MTHFR mutation). My OBGYN told me to take 4mg of Folic Acid, any brand of Prenatals and Baby Aspirin when I get pregnant again.

    I researched a lot online on this condition and found that some women have success with taking NEEVO prenatals which has Folic Acid in the form of methylfolate. Long story short, I got a prescription for NEEVO DHA and took that throughout my only pregnancy that was a success (LO born on 12/11/12). Now, fast forward to last few month we started trying again and I wasn't really sure if the medication made a difference so I was just taking regular multivitamins. I just had another MC last week and I am so lost and heartbroken. I now wonder if I need to go back to my NEEVO or some other special prenatals for us to have a successful pregnancy. I will discuss this with my doctor next week but at the same time not sure if she has enough knowledge on this since she never prescribed anything special other than extra Folic Acid and Baby Aspirin.

    I was wondering which medications have you been taken to treat this condition. Is there any advice/suggestions you can offer? I look forward to hearing back from you.

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    1. Hoping again - So sorry for your loss! I would absolutely go back on the Neevo! After I delivered my daughters I didn't refill my Neevo and I got pregnant on my own (!!!) but miscarried at about 6 weeks. I got back on the Neevo and 7 months later got pregnant again and carried to term. I can't guarantee that it was the Neevo, but I miscarried each pregnancy before I started taking Neevo, and I miscarried after I stopped taking Neevo, but never once miscarried while I was actively taking it. If I were you I would seriously consider going back on it! I know it is expensive, but it is so worth it! I still take Neevo and baby aspirin every day and I am not pregnant (but am still nursing my almost two year old). It is protective against other things as well...decreases your chances of stroke, DVT, etc...my OB told me I have to be on both the Neevo (or other form of the metabolized folic acid) and baby aspirin for the rest of my life, so that's what I'm doing! Good luck!!!

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    2. Thank you so much for a quick response Megan. I am getting a prescription for Neevo DHA again but just started taking Vitafol Ultra since the local pharmacy couldn't supply Neevo but I can get that ordered via mail. We are hoping ttc again from August onwards so in your opinion taking Neevo for a few months is going to be enough while ttc. I will continue to take it if I become pregnant of course. I will be asking my doctor the same question but wondering what your thoughts are on it. In other words, how long does it take for these vitamins to be effective and really work?

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    3. Yes, I think that would be fine. Going off my personal experience, I started on Neevo about a month before my last IVF cycle/transfer, and we got pregnant with the girls that month and carried to term....so I think a month or more of Neevo is probably adequate. Definitely start when you can. Again, just going off my experience, it seemed to be the difference for me between miscarrying or not =). Good luck in your TTC journey!

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  41. Thank you again. I am hopeful and your story gives me additional hope. I just checked and with my Dec 2012 baby, I started Neevo beg of Feb'12 and conceived beg of April'12 and had a healthy and happy pregnancy :) Thanks again for all this information and your support.

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  42. I'm so glad I found this. My hubby and I have been TTC for almost 4 years with two early miscarriages. I just got blood work back that I'm compound heterozygous. My fertility Dr said a lot of doctors don't think it is a big deal, but he does. He has me on folgard, baby aspirin and coq10, plus I take a prenantal. We meet with him this Friday to discuss my results. What questions should I ask him? I hope this is the answer. I have seen things about an increased risk for autism, downs, and others...would that level be back at normal if I'm being treated for the problem?

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  43. Hi! I love the way you have laid our the MTHFr info here. I was diagnosed as compound heterozygous in 2010 as part of a thromobosis panel prior to a breast reduction surgery. Before my diagnoses, I had 10 years of B/C pills and then 2 successful, uneventful pregnancies. Since the diagnosis, I have also been diagnosed with PCOS and after a rocky year trying to conceive, because I am normally anovulatory, we went on to have a 3rd successful and uneventful pregnancy.I am currently pregnant with baby #4, 16 weeks tomorrow. Still I have yet to experience the normal "symptoms" of the MTHFr. I had my homocysteine tested once before my surgery and it was 7. Which is in the normal range.
    My question is, I have recently changed from a folic acid supplement to a high does 5-MTHF supplement, and have been experiencing fatigue, headaches, and acne. I first wrote this off as a pregnancy thing, but after a bit of research have found that it could possibly be from too much of the bioavailable 5-MTHF. Have you heard anything about a recommended dose, or dealt with a dosage too high?

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Thanks for sharing your thoughts with me!