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MTHFR C677T????

Hey all!!!!  I just wanted to ask what this means???? I tested positive for one copy of this, but has anyone else????? and what did they do for you?????
Jacquie
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4463999 tn?1354982974
Hi
I never write on Forums but thought what my ND has told me may help. That MTHFR people need a type of Folic acid and may who make it is synthetic. I was diagnosed with the mthfr c677t Homozygous and she put me on, Thorne methyl guard plus  (a natural form of folic acid that is more effective she says but did give me headaches hope they go away) and suggested I eat an anti inflammatory diet.
Also gave me a shot of methylfolate and B vitamins.
This link talks about how folic acid can actually hurt this type of mutation.
http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/
I am still learning what to do with this and hope this helps you all.


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Avatar universal
I have the MTHFR gene (one copy C).  I lost a baby at 32 weeks before I found out about this.  The baby I lose had NO genetic defects (I had the CVsampling done), but, he had a nuchal fold of 6mm.  We were getting his heart monitored regularly and it seems to be developing fine (obviously SOMETHING was wrong).  They found no blood clots in the cord or placenta.  I didn't have an autopsy, I just couldn't bear to send him away.    Since then I have given birth to a healthy baby girl.  I took my regular prenatal vitamins as well as extra folic acid each day.  I had TONS of ulta sounds and fetal stress tests as well as regular biophysical profiles on the baby throughout my pregnancy, and NOTHING came back abnormal this pregnancy. So there is hope.  

MY question now is.  Can I take birth control since I have the least aggressive form of this?  I am at a point where for once, I don't want to get pregnant, and I am not sure if birth control is a bad idea for me (I am thinking it is, but just wanted to hear if anyone's doctor's have given them advice on this).  Thank you.
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Avatar universal
Hey Everyone-
  I have two copies of the mthfr c677t gene mutation.  I was told this means my mother and father both have it.  We know my father does for sure.  My mother had nine children, and I believe four miscarriages in between.  I have had two children and no miscarriages.  I just found out about this mutation and my doctor has started me on a low dose of methylfolate and methylcobalamine along with B12 and D3.  My doctor said that this mutation pretty much means that I do not digest vitamins very well.  As far as the blood clot part- that does make sense as well.  I got varicose veins at only 22.  This mutation can cause many problems other than blood clots and inability to digest vitamins.  I also have heart disease, depression problems, digestion issues, and much more.  All of this apparently can be related to this gene mutation.  Read what you can on the internet and speak with a naturopath.  So far this is the type of doctor I have found who knows the most about this gene mutation.  Good Luck to everybody.
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631676 tn?1333718203
i too have the license plate version of "mother f*r". i have to find out which type tomorrow. so far only on baby aspirin and prescription folic acid. i had 3 mcs. after first i was put on baby aspirin as a precaution anyway. and third baby never had a heartbeat. so i am not sure if MTHFR is the cause. not sure if maybe i skipped a day on baby asprin or extra folic at any point that made the difference. since i was not diagnosed it was just a "just in case" type of medical advice.
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Avatar universal
medications- aspirin 81mg daily
                    folic acid 4 mg daily
                    calcium 1000 mg daily
                    vitamin B-12 250 mcg daily
                    vitamin b-6 25 mg daily
                    folgard rx twice daily
If homocystine level is elevated start heparin, check  platelets 2x first week and then weekly x2 weeks.
1st trimester- 5000 units sq bid (injections twice a day
2nd trimester- 7500 units sq bid
3rd trimester- 10000 units sq bid

These are recommended medications for pregnant women or women who are trying to get pregnant. My sister and I just tested positive with 1 misscarriage each. I had a pulmonary embolism(blood clots to the lungs) my 1st pregnancy and was put on blood thinners for my next 2. I have 3 healthy children and have had no complications since the pulmonary embolism. My sister has 2 healthy babies and just had her first misscarriage and tested positive for the mutation. She will be following this list of medications and we have all the hope that everything will work out well for her. Our doctor is awesome and knows what she is doing because she deals with clotting disorders on a daily basis. Good luck! If you don't have a doctor that recommends medications THEY DON"T KNOW WHAT THEY ARE DOING! I hope this helps and I know that it helped me.
amber
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Avatar universal
I am 22 weeks pregnant with my first baby!  I just found out that I have MTHFR with both the C and A mutations.  (found out because my sister had a miscarriage at 8 weeks and was tested) I have not had any complications thus far, but I am really concerend about the blood clots.  When I discussed MTHFR with my doctor (before the results were back) he did not mention anything about taking a baby asprin or taking blood thinning meds.  He just said we would increase my folic acid intake. Are there any further tests that I can do to make sure I am not having any blood clotting issues, or anything that can be done to monitor for blood clots in the placenta? I am going to see a high risk pregnancy doc tomorrow and I would just like to be more informed before I go in.  Thanks for your help and support.
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Avatar universal
HI,

     I HAVE TO COMMENT ON THIS, I AM 43 SOON TO BE 44 YEARS OLD. I HAVE TO VERY BEAUTIFUL DAUGHTERS. I ALSO HAVE 2 TYPES OF MTHFR BOTH OF MINE ARE THE C677T, I NEVER HAD A MISCARRIGE, AND WHEN I HAD MY GIRLS THIS MUTATION WAS NEVER HEARD OF. BUT I WAS A DIABETIC SO I WAS CONSIDERED HIGH RISK, SO I WAS WATCHED CLOSELY FOR THAT. ANYWAY, I WAS GIVEN LOTS AND LOTS OF FOLIC ACID TO TAKE, I TOOK MY PG VITAMINS FAITHFULLY.
    MY GIRLS ARE 21 AND 18 NOW, AND THE 21 YEAR OLD JUST GOT MARRIED AND WANTS TO HAVE CHILDREN RIGHT AWAY. I ONLY LEARNED OF MY ILLNESS ABOUT 2 MONTHS AGO, AND WAS TOLD TO HAVE MY GIRLS CHECKED ALSO. THEY BOTH TURNED OUT TO HAVE WHAT I HAVE PLUS THE T1298A FORM, WATCH THEY THINK HAS CAME FROM MY HUSBAND. HE HASN'T BEEN TESTED YET.
MY GIRLS HAVE BEEN TOLD IT WILL PROBABLY BE IMPOSSIBLE TO HAVE CHILDREN. BUT I KNOW WITH THE GOOD LORD ABOVES HELP THEY WILL HAVE BEAUTIFUL CHILDREN. BUT BARE IN MIND ONE THING, THE CHILDREN YOU BRING INTO THE WORLD WILL NO DOUBT CARRY THIS ILLNESS ALSO.
      ONE FINAL NOTE, THE ILLNESS CAN EFFECT YOU LATER IN LIFE, WHEN I WAS 36 YEARS OLD, I DEVELOPED BLOOD CLOTS IN MY LUNGS, DUE TO THIS ILLNESS BEING SO SEVERE. I NOW TAKE A DOSE OF 12.5 TO 15 MG OF COUMADIN ADAY, AND CHECK MY BLOOD TWICE A WEEK TO MAKE SURE IT IS THIN ENOUGH, IF NOT I KEEP AND TAKE HERAPIN AT HOME BY SHOT IN MY STOMACHE. I HAVE HAD 3 BLOOD CLOTS HIT MY LUNGS. SO REMEMBER TO TAKE CARE OF YOURSELVES AFTER THE BABIES COME. NEVER SMOKE OR TAKE BIRTH CONTROL OR HORMONES OF ANY TYPE. AND WATCH SURGERIES, AND ALWAYS STAY AS ACTIVE AS POSSIBLE.
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374593 tn?1257879950
I just tested homozygous for the c677T gene.(two copies of it : ( ) .. after 2 chem pregnancies and 2 miscarriages... i PRAY this is the answer to our problems! I'm now on 5mg of folic acid, b12, b6, baby asprin every day and then heparin before implantation occurs for our next cycle! anyone ever hear of starting heparin before the preg test?   I love hearing the success stories it truely gives me hope! i hope this is our answer to why we have had so many losses!! and that there is a treatment!
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Avatar universal
I am heterozygous for C677T and had a healthy, past due-date, baby boy three years ago - before I knew I carried this gene type. In this past August I miscarried at 14 weeks, though didn't find out until 16 weeks. I am ttc again with no luck so far. My doctor has prescribed Folgard, prenatal vits, and baby aspirin. I had two regular cycles, 1 late cycle, 1 early cycle, and have been spotting for the last 8 days even though my period wasn't due for two weeks. So, I'm frustrated, but not beaten. I've had a healthy baby - I know it's possible. So I want you all to be hopeful. I feel for all of you and am very sorry for your losses.
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Avatar universal
Hi mthfrhetero,
I am so sorry that you have had 6 m/c's.  

I did want to encourage you and anyone else who has compound heterozygous MTHFR.  It is definitely possible to have healthy babies.  I don't understand it, but I was able to have 3 healthy pregnancies.  Then I had 2 miscarriages in a row.  That is how I found out that I had the MTHFR mutation.  Right now, I am researching it and trying to find a doctor who understands what the heck it is.  It seems just as luvmybaby121 said that doctors don't really know what it is.  Some get defensive because I seem to have more knowledge about it than them.  Others aren't so proud and come out and say that they don't know much about it.  Others fake it... but I can tell.  It is kind of scary.  

My ob doctor who I was seeing me when I had the m/c's does not seem to agree with me that compound hetero MTHFR could cause miscarriage or increased homoscysteine levels.  So, I need a new doctor.  I bypassed her and went to my family physician who did not really know much, but let me get the homocysteine test and a host of other tests that might be relevant.  Then he put me on baby aspirin, folic acid 1 mg, generic folgard (folic acid, B12 & B6) and my prenatal vitamin.  So, I meet with him on Monday to go over some lab work (homocysteine levels, B6 and B12, thyroid etc...).  I feel like he is on the right track, but definitely not an expert.   I am kind of guiding him along and telling him what I need to take and test for.
  My mother-n-law went on a cruise with her best friend who happens to be a high risk ob doc.  So, I asked her to "consult her about my problem" while basking on the beach.  I can't wait to here what she has to say.  I will talk to her on Monday also.  I also have a friend who works in research and she has been gathering lots of articles about mthfr and helping me get as educated as possible (I will share some of those findings later.).  She is also meeting with other scientist/professors that work with homocysteine research.
Then...I consulted with my children's pediatrician (since my children have 50% chance of having this mutation) and he referred us to a pediatric geneticists.  Can't wait to see what he has to say.  

Today, I got back on line to copy down some of the things people's doctors have been giving them so that I can figure out what to do next.

So, I am trying my best to do everything I can to help myself have a healthier pregnancy (if we decide to try again).  It makes me very sad to hear all of all of the women who have had miscarriages or stillbirths because of this problem.  I am so very thankful that I have my 3 boys.  We were trying for our little girl.  

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Avatar universal
Hi All,

I am new to this forum, sailing in the same boat - 6 m/cs - having MTHFR compound heterozygous. Tried lovenox, baby aspirin, progesterone. None of my OB/REI/Perinatologist suggested taking high folic acid. I am really excited to see baby1234's progress. I am interested in hearing experiences on people with similar MTHFR comp.hetero who have gone thru full term.

Good luck to you all.  baby1234, please keep us posted with your progess. I am really motivated looking at this forum, even though I am not depressed, doing good...positive attitude..not my fault for being born with MTHFR! Cheer up, let's try our best and enjoy with what we are/have too!

Have a great day.
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237300 tn?1231454718
good luck...stand up for yourself!!
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Avatar universal
Well,  since my ob doctor disagrees with me getting a homocysteine screen I have made an appointment with my family doctor who is an internal medicine doctor.  Because MTHFR is really a problem for a person in more than just fertility and pregnancy.  He should know some stuff about it and maybe he will let me get the test.  I see him on Thursday.  
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237300 tn?1231454718
After all that I've been reading I think once I become pregnant I think I'm going to ask my RE to give me the name of a good perintologist.  I think it's better to be safe then sorry.  I'm sorry to hear about everyone's losses.  I'm also taking a baby aspirin, folbic, and prenatals.  

Jenbug-  I had my homocysteine levels checked about 10 weeks after my m/c.  I would say it's a good idea for you to.  I don't think age makes a difference with MTHFR b/c you always have that gene mutation.  It gives me hope that you have 3 healthy boys!  I'm 30 the good thing is we still have time....

Good luck everybody!
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Avatar universal
i have mthfr c677t and i have had three misscariages ( i just had the third last week and i go back to doc on monday to see if hcg level is back down to 0) this last pregnancy i was taking neevo, 2 - 800mg folic acid and a baby asprin in the morning and neevo, 2 more 800 mg folic acid and prometrium at night.  I did not make it any further with this pregancy than the other two.  my hcg level did get a lot higher but i still miscarried at 6-7 weeks.  my obgyn said at this point he has done all he can do and is ready to refer me to a specialist.  my homocysteine level was not high but i did test abnormal for the mthfr mutation.  my father died at 46 from a clot and had a stroke at 42 and after going over family history my obgyn had a feeling i would test abnormal for this mutation.  i really thought after finding out the problem and taking these vitamins and asprin would help me stay pregant.  what do you suggest.  does anyone know what else i can do or should i make a consultation and go see a specialist.  
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Avatar universal
Oops sorry for the empty space!  To answer your question... no I never had any difficulty conceiving or carrying a pregnancy until this year. I am only 34 y/o.  I don't know if age is a factor or not in all of this.  I am currently not pregnant.  I had a missed miscarriage about 6 weeks ago and a D & E and I am still waiting for my period.  I am not sure now would be a good time to get my homocysteine screening, but I am anxious to see what it might be.  
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237300 tn?1231454718
No I don't think you are worng for wanting your homocysteine levels checked. My RE said I should have mine checked during my pregnancy.  It is VERY important!  Did you have any problems coneiving your boys?
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Avatar universal
Wow!  It was so wonderful to hear everyone's story.  I learned so much.  I am compound heterozygous for MTHFR.   I found this out after 2 miscarriages this year.  After a lot of research, I asked my OB to allow me to have a homocysteine screen because I read that the compound heterozygotes can have the same risks and symptoms of homozygotes.  She disagreed and started getting defensive and irritated at me so I backed down.  I don't know if I am going to try to have anymore children because we already have 3 precious boys (lots of work!!).  But if we do, I want to get a doctor that will take this more seriously.  

Thanks so much for sharing- especially baby123.  That was the best explanation I have heard and confirmed all my research.  I am going to print this out for my DH to read.

Do you think that I am right in wanting to get the homocysteine screen?  And, pregnancy aside, what should one do in my situation to be healthy for the rest of my life living with this problem.  In other words, to protect my heart and health should I be taking extra B vitamins etc...
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Avatar universal
Hey there.  I have both the MTHFR C677T and A1298C.  I have struggled with miscarriage after miscarriage.  I was fortunate enough to have a beautiful little girl a couple of years ago and we are trying again.  What I have found to be the most important part of having this mutation is finding a doctor that knows what this is.  I have had a couple (we have moved around and needed to find new dr's) that had no clue how to help and all of my miscarriages were with these dr's.

I am now working with a perinatologist in Columbia, MO and an excellent OBGyn there as well.  They know what they are talking about and that has brought my level of anxiety down - which is important as well.  

I am on heparin (blood thinner), baby aspirin, l-methylfolate (which is the broken down form of folic acid).  The l-methylfolate is due to our bodies not able to process folic acid.  That is why dr's increase the folic acid recommendation to 4 - 5 mg during pregnancy.  They also suggest taking b6 and b12.  My OB has also suggested staying away from refined sugars (enriched flour, donuts, ect.)  he thinks a Mediterranean diet is a good diet to follow.  

It is also important to remember that the whole pregnancy should be viewed as high risk.  Not just the first trimester.  Your dr can give you more information on this.  

Please know - for those that have the miscarriages, you can do this.  We pushed through after 3 mcs and now have a perfect child.  We had another mc after her (when we started trying again).  But I know that we can do this.  My Ob's nurse also has had a successful pregnancy.  

Good luck and remember that there are Dr's out there that know exactly how to help you.  We drive an hour to see ours.  It is worth it.  
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Avatar universal
Promise us when you have your babies not to forget to inform us. We all really need a happy ending story!!! Please!!! Hope all the girls are with me on this.
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Avatar universal
Faith--so sorry about your loss. I would definitely make sure that you are tested for thrombophilia issues when you decide to ttc again. Third tri losses are often due to clotting disorders. Have them do the the recurrent miscarriage panel (the common name). It is about 9-12 vials of blood for the whole panel, so expect them to take a lot. MTHFR can be a contributor to your baby's death, but it wouldn't surprise me if there isn't more happening to.

I wish you well with your marriage and ttcing.

Ashort--Sorry for your mc. After my first mc I wanted to be tested for clotting, but I let my doctor convince me it was bad luck or bad eggs. When the second mc happened, there was no way I was leaving until he gave me those bloodwork slips!!! I think the doctor was surprised when something actually showed up with the bloodwork (mthfr and protein s deficiency). I see only the RE and I still trust him despite him not listening to me. I take that blame on myself...I learned to be my own advocate from that and to remember they are only human.
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195647 tn?1198850534
Ok so I stopped reading when I finished baby1234's first post. I had a stillborn at 27 weeks in 2004. The umbilical cord had formed very small at her belly button and a blood clot had stopped the blood flow to her. The Dr. did not exactly explain to me how it happened or do any sort of testing. I know I have clots all the time with AF. This sheds a new light on things for me. I am getting married again soon and we will be going to a Dr. to try and conceive. I am going to inquire about this from the beginning. Thanks for everyone posting on this subject.
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237300 tn?1231454718
I just reread the email my RE sent me.  I am compound hetero. MTHFR.  He has me on Folbic (which have extra vitamin B and folic acid in them.  I'm also taking a baby aspirin a day...I'm so glad to hear you are doing well.  It gives me hope.  I had a m/c in June and demanded that I was tested and it was such a good move.  I love the website you posted above.  It was so informative.  Do you see a reproductive immunologist or just an RE?
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Avatar universal
Heterozygous is one gene mutation of either C677T or A1298C (your category and least worrisome)
Homozygous is two gene mutations of either C677T or A1298C (the most severe)
Compound heterozygous is one gene mutation of each C677T and A1298C (what I have and second most severe)

I'm not sure which mutation you would have, you would need to check with your doc. You are most likely okay as long as your homocysteine levels stay within normal range. If you are concerned about your levels you might have your doc check your homocysteine levels again to verify results.

Are you on extra folic acid and B vitamins? Your doc can prescribe the folic acis and b vitamins to keep your homocysteine levels in check. (prenatals don't have enough folic acid to do this) They also have supplements over the counter if you want to add this to your diet on your own. Whatever your body doesn't use/need is ejected without harming you. You can google mthfr to find out recommended amounts of each vitamin to help you out.

Good luck!

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