Since I've had four mc's and posted frequently on this board, I'm sure many of you remember me. I've been waiting for the results of my blood tests, and although I dont have my chromosome analysis back yet, the rest of the tests are in and my doctor says I have a MTHRF mutation on my DNA. He has referred me to a specialist (only eight days till the appointment - fast!). Has anyone else out there been dealing with this. I guess it doesn't cause complete infertility, because I do have an 8 year old... ↓
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Name: Kim | Date: Nov 16th, 2005 1:24 PM
Hi Erin: I do not, but from what little I know of this problem it sounds like it is some kind of enzyme deficiency that causes blood clots? Is that right? I assume your specialist will go over treatment options with you. I'm so glad they could get you in fast! Did your diagnosing doctor say that this could be treated with anything like a heparin and baby aspirin combo? ↑
Name: brandi | Date: Nov 16th, 2005 4:04 PM
erin-
i have one mutation which means i'm a carrier but my husband has 2. MTHFR is a blood clotting disorder and I to have had four miscarriages the last of which happened at 18 weeks. I have been told that in my future pregnancies I would be put on a higher does of folic acid as well as blood thinners. In my case my husband will pass on the disorder no matter what and I have a 50 50 chance so if it turned out that I did pass it on MTHFR can cause blood clots to form around the baby or the placenta. I go to meet with the gentic counsler on the 30th so hopefully I will find out more. ↑
Name: Kara | Date: Nov 16th, 2005 7:01 PM
I googled "MTHFR miscarriage" and got an article called "Ask a genetist". The woman had muliple m/c. She was asking about extra folic acid (above and beyond prenatals) to prevent micarriages. The genetist went on to explain how higher doses of folic acid and blood thinners have been used in woman who have MTHFR, but would not be increase positive outcome if she did not have this mutation. Also, was this test part of karyotyping? How did you find out you had this? I was not aware of this problem. I am always very curious about this type of stuff since I don't buy into the "really, really, bad luck" theory my doctor keeps throwing at me. ↑
Name: Kara | Date: Nov 16th, 2005 7:05 PM
Here is the address to the article.
http://www.thetech.o-rg/genetics/ask.php?id=84
Her-e- is a portion of the article.
One such situation is if the mother has certain mutations in the MTHFR gene. People with this mutation need extra folic acid. Something called homocysteine builds up in their blood and they need folic acid to combat its effects.
One of the effects of increased homocysteine build up may be more lost pregnancies. One number I saw was that 21% of women with high homocysteine levels have recurrent pregnancy loss! But if this is true (and I haven't seen the hard data to confirm it), is it because of chromosomal abnormalities? Or something else?
Hard to say. There are a couple of ideas out there for how high homocysteine levels might affect a pregnancy. There is some evidence that clots form more easily in these women’s blood. Too much clotting can lead to problems like cystic hygromas which are known to affect pregnancies.
Another possible consequence of high homocysteine levels is chromosomal problems. DNA is often thought of as unchanging but it is actually pretty dynamic. While the A, G, C, and T’s rarely change, something called DNA methylation can change a lot.
DNA is decorated with little chemical groups called methyls. These methyl groups can affect whether a gene is turned on or off. They can also affect whether a chromosome goes to the right place when a cell divides.
The connection here is that high homocysteine levels decrease your pool of methyl groups. What this means is that there is less methyl around so your DNA might not get enough. What folic acid does is provide extra methyl groups to the pool.
It certainly looks like women with the MTHFR mutation have more babies with Down syndrome when they don’t get extra folic acid. But, is there a connection with other chromosomal problems?
No one knows for sure. In one study, researchers failed to find a connection between the MTHFR mutation you mention and any other trisomies except, possibly trisomy 18. However, the researchers couldn’t tell from that study whether the mothers had had enough extra folic acid in their diet to overcome their mutation. ↑
Name: Erin | Date: Nov 17th, 2005 9:50 AM
I saw my test results and have what is called "compound C677T and A1298C heterozygous MTHFR mutation. This and Homozygous MTHFR are the one's that cause problems. 40% of the population has plain old heterozygous MTHFR mutation and it means nothing. The compound and the homozygous types are the dangerous ones. They also put you at risk for vascular diseases generally. You should take aspirin every day, pregnant or not. I found out by a special chromosome test, one of dozens I had done. I don't understand how I had my daughter, but it proves you can have a normal pregnancy without treatment. It was nine years ago, and perhaps my homocysteine levels were lower then, although I had a mc right before my daughter as well, so that is odd... Who knows. I did have a lot of (bright red) unexplained spotting during that whole pregnancy, maybe blood clots causing small parts of the placenta to break off, like tiny abruptions? Possible, I guess. Anyway, I feel like she is a huge miracle. I'm seeing a specialist on the 29th, so hopefully will know more then. Any pregnany to a MTHFR compound or homozygote is considered high risk. I'm not sure I can put myself though that. I have to do a lot of thinking. I'm 37 and would have to have CVS to rule out chromomal problems early, seeing as I have this. ↑
It is recommended that MTHFR patients need as much as 10 times the normal folic acid supplement. Not just during pregnancy, either, but every day to lower risk of all vascular disease. Also baby aspirin. I will see if the specialist backs this up next week. There is a prescription vitamin called Folgard which has all the folic acid and B6 and B12 needed by women positive for MTHFR. ↑
Name: Trish | Date: Nov 30th, 2005 12:51 PM
I went to a hemotologist after being diagnosed with MTHFR (and after 3 miscarriages). The hemotologist tested my homocysteine levels and said that if they come back normal than the MTHFR is not a problem. If fact, she said more and more doctors are only testing for the homocysteine levels than the mutation becuase you can have the mutation and no complications such as high homocysteine levels. So my test came back with normal homocysteine levels and I was sent on my way. Then when I went back to my infertility doctor with that info she still wanted me on Folgard (folic acid, b12, b6) for a month before conceiving again. She said it is because the MTHFR gene is defective and what it usually does in convert folic acid into other nutrients that your body and the baby will need. When that gene is malfunctioning you don't get those nutrients needed. So by giving you the Folgard they are giving you a overload of what your body doesn't naturally do. She said high homocysteine levels are mute in this regard. That is a compication that will probably come later...for me at least....but not a problem right now. ANyway....I think any information is helpful in this frustrating situation and I hope it helps. ↑
Name: Erin | Date: Dec 2nd, 2005 2:18 PM
Hi Trish - I went to a specialist and she told me the same thing! Tested my homocystine levels (not back yet) and put me on Folex and baby aspirin. She said if homocystine levels aren't high, that isn't what caused my 4 miscarriages... She also ran a few more tests that my regular ob/gyn didn't. If they all come back normal, she says it's probably just bad luck.... She said no heperin unless homocystine is high. ↑
Name: NJ | Date: Dec 3rd, 2005 12:47 PM
I too have heterozygous mthfr mutation. have had 2 m/c. i am on high doses of vitb6, b12, and folic acid. i hope this will help for next time ↑
Name: Erin | Date: Dec 4th, 2005 1:53 PM
A neighbor just informed me of a success story for compound hetero) MTHFR mutation (which is same risk as homozygous). Baby is now nine months old, heperin shots daily throughout pregnancy. Dr. says only two pregnancies for her though - due to being high risk. ↑
Name: Trish | Date: Dec 4th, 2005 5:35 PM
Hi Erin, So when will you get your homocysteine level test back? If they come back normal will you go off the Folex? I don't know how you feel but I' really frustrated. Something is causing these miscarriages and doctors just don't know why. My fertility doctor still wants to continue me on the Folgard even though my homocysteine level is normal. She says it is because I don't process folate and B vitamins properly due to the MTHFR gene mutation BUT that doesn't make since to me. Actually what keeps your homocysteine levels down is folate and B vitamins. So if your homocysteine levels are normal that would mean that your body is processing enough folate and B vitamins. Anyway, I'm frustrated that the doctor is insisting on keeping me on the Folgard since it doesn't make any sense to do. Look forward to hearing your feedback! :-) ↑
Name: Erin | Date: Dec 5th, 2005 1:18 PM
Hi Trish - I am definately going to stay on the Folex no matter what. I have read that homocystine levels can vary, and staying on the Folex keeps them on track all the time. THis is important due to general risk of vascular disease. Also, I actually feel better since taking it! I used to get very tired easily, but feel much better now. Don't know if it is just a coincidence... ↑
Name: Anna | Date: Dec 5th, 2005 2:53 PM
Hi Erin, I do not think it is a coincidence. I feel the same way. Whenever I take folic acid +b6+b12 I feel more energy and do not get tired easily. So, keep taking those no matter what ....
I did read all your emails and I got some sense what is going on. I am also 37 years and got diagnosed with mthfr (2 compounds) 2 years ago.
I had my friends (not very close) over yesterday and I asked her if she is planning for a second one (she has a 6 years old girl) and she said that she recently had 2m/c-s and was diagnosed with mthfr. She did not have any m/c before her daughter was born. She did not take any Folic acid and B6/B12 before. The doctors now are offering her shots if she becomes pregnant. In my mind I was thinking it was a miracle that she had a girl. (Like in your case) Then I told her my story. (below)
My story is little different. I have a 5 years old son. I got diagnosed after I had a m/c only 2 years ago, BUT I had 6 m/c before my son was born. After 6 m/c-s I was so frustrated of hearing that nothing is wrong with me just a " bad luck "(all tests found nothing). I went to John Hopkins University Medical center back in year 2000. They told me that only 30% is known to the modern Medicine and they have no idea what is wrong with me since all my test were negative (at that time no one even was mentioning mthfr b/c I guess it was just discovered in late 1990-s and probably tests were not available at that time). But they instructed me to take baby aspirin + PROGESTERONE right before getting pregnant. So I did and a month later I started a healthy pregnancy (I had blood too during that pregnancy ). I gave a birth to a healthy boy (thanks God). At that time I was thinking I found a magic formula (progstoerone and baby aspirin) until I was ready for a second child. So it did not work for the second time and I had a m/c. That is when they did a test and found me positive for mthfr. (They offered me shots too.)
SO MY CONCLUSION IS THERE ARE COMBINATION OF FACTORS THAT ARE CAUSING M/C-S. MTHFR PLAYS A BIG ROLE BUT SOME OTHER THINGS ARE INVOLVED TOO WHICH WE DO NOT KNOW. Maybe progesterone supports placenta? maybe you need a right amount of folic acid and b6/b12, I do not know. But you can suggest your specialist the progesterone - it is better than shots...... I do not know now. I was thinking I found a magic formula for successful pregnancy but after a m/c while I was on it changed my thinking. Maybe it is combination of rest, right amount of progesterone, folic acid, b6 b12, aspirin and a strong fetus that can "survive"....... everybody's body id defferent too. THANKS. Apamb@novainternational.com ↑
Name: Erin | Date: Dec 6th, 2005 9:33 AM
Anna, thanks for all your great information and very sorry to hear about your losses. I was on progesterone with the last preganancy, which miscarried at 10 weeks, which was the longest any of my pregnancies has lasted except for my little girl... The embryo was reabsorbed and the ultrasound showed an empty sac after previously showing baby with good heartbeat... So doctors thought progesterone was doing its job, but there were other problems... they did the blood tests after that and found the MTHFR mutation. I also had a 21 day progesterone level test, and it was 26.6 - slightly above the normal range, so my progesterone seems OK, but I will definately ask the new specialist if I should take it next time as well.... I get pregnant so easily, I'm sure there will be a next time. Whether it comes to fuition is another story. ↑
Name: carol | Date: Dec 6th, 2005 1:54 PM
Hi Erin - I found out that I have a slightly elevated homocysteine level. I take additional folic acid, B6 and B12. The high level can cause neural tube defects and is linked to causing miscarriages. Taking the vitamins brings the level back to normal and removes all those risks. It's caused by a mutation on your DNA (I have a single mutation, some people have multiple mutations). But the good news is that it's fixable. ↑
Name: Tara | Date: Dec 7th, 2005 6:45 PM
I Erin. I am a mother of two and I had a fetal dimise back in July at six months. I just found out I was pregnant 5 and a half weeks. The doctor ran hcg and they looked great but I have MTHFR. The specialist can't see me until Mon. Have you heard if it is hopeless if you don;t start theropy before you get pregnant. Thanks ↑
Name: Kara | Date: Dec 16th, 2005 8:04 PM
Both of my husband's sisters just found out that they have MTHFR. One of them thought she couldn't get pregnant, but turns out she was having very early m/c's. The other sister, who has had a history of blood clots, went to go get tested when she heard about the other sisters results. She had a missed m/c at 17 weeks between her first and second child. She almost died after the birth of her third child due to a blood clot in her brain. She has had other blood clot problems, but never knew that it was MTHFR causing them. ↑
Name: Jennifer | Date: Dec 16th, 2005 11:22 PM
Hi girls! Well I have to say it is nice to find people that have the same gene mutations. I actually have MTHFR and Factor V Lieden. Two blood clotting disorders. Some history...I had two early miscarriages about 6 months apart. After the second one, my doctor did a whole bunch of tests and I came back positive for the two gene mutations. They immediatly put me on baby asprin, and folex. I went to see a few high risk doctors and they put me on baby asprin, b6, b12, and folic acid. Well the third time I got pregnant, it stuck. As soon as I found out they took me off the baby asprin and put me on the lovenox injections. 30 mg, once per day. I had lots of first trimester bleeding, but after 14 weeks it stopped. (thankfully) I had a healthy baby boy 6 weeks early (I guess a common thread among those on blood thinners during pregnancy)....we are all fine...I took the blood thinner until 6 weeks postpartum....then I was finished. (anything to do with my low milk supply?) But now I do not take anything, but I am thinking abotu getting pregnant again and I am going to pray that the thinners and asprin and vitamins give me another healthy baby. My doctors really did not consider me high risk (cleveland clinic ones) but the original one did...and said I would need extra appts....went to cleveland clinic....they were great. They did, however, send me to a hemotologist who checked all of my levels once a month (all were normal). ↑
Name: Erin | Date: Dec 17th, 2005 8:19 PM
Hi everyone and thanks for writing. My homocystine levels came back normal, but my doctor is keeping me on the folex and baby aspirin anyway. ↑
Name: Erin | Date: Jan 2nd, 2006 3:39 PM
Hi everyone. I just came back from the specialist who has had me on progesterone (even though my levels are good) Foltx and baby aspirin and I am 6 weeks 3 days pregnant. I saw the baby on the ultrasound, heartbeat and all, just this morning. Fingers crossed for me - I got farther than this last time and still lost the baby. Hopefully the FOLTX and baby aspirin will make the difference this time. I am heaving with morning sickness all day long. ↑
Name: Kristine | Date: Jan 6th, 2006 7:39 PM
Congratulations Erin. I wish you lots of luck! I've had two mc's (August and November) both at around 7 weeks. Your postings here and others have been very informative. It is so much information to absorb. My doctor just called and said MTHFR A1298C was detected in my blood tests but not MTHFR C677T. I tested negative for Factor V. She said I am a heterozygote. After these postings, I am going to request my homocysteine levels be checked. ↑
Name: Erin | Date: Jan 7th, 2006 10:16 AM
The homocystine test will determine if MTHFR is behind your problems or not. If it's normal, either bad luck, unfortunately, or keep looking elsewhere for answers. Lots of luck! ↑
Name: Erin | Date: Jan 7th, 2006 10:19 AM
Heterozygotes usually are no problem. Homozygous and COMPOUND heterozygotes are the ones with the risk. But if homocystine levels are normal, even they are OK. It's all in the homocystine levels and keeping them normal. Homo and Compound Heteros should take FOLTX to make sure the levels don't become elevated. ↑
Name: gigismith | Date: Jan 15th, 2006 7:29 PM
I am so glad I found this posting. This gene which in my family we like to refer to it as the Mother....you know what gene is very complex and confusing. I was tested for this after my 2nd miscarriage and tested postive but I do not know if it is hetero or homo, my Dr didn't tell me. All he said was take a daily dose of baby aspirin, Folic acid twice a day and Vitamins B6 and 12 and I will be fine. So I have an appointment on Tuesday for my ultrasound to start the IUI procedure again. It worked but we didn't know about the gene so the twins didn't develop and I lost them at 9 weeks. I'm just very scared that this treatment isn't going to work. Keeping our fingers crossed. Thanks to all who have shared their stories. ↑
Name: Kristina | Date: Jan 18th, 2006 6:11 PM
Hello all: I just came from my doctor's office and received results that I am MTHFR homozygous. He gave me a prescription for folic acid, but said if I'm taking prenatal vitamins, or a multivitamin that I did not need to take the extra folic acid yet. I guess I should have started that I lost my pregnancy at 21 weeks about 10 weeks ago. I'm going to my maternal fetal specialist on Monday to discuss what they think I should do next. I don't know what my homocysteine levels were, or even if they were tested for. I was just kind of relieved that I had something wrong that could be fixed so I wouldn't lose my next baby. He also said that I would probably be put on heparin injections. Has anyone had to do that? and does it hurt? I have a phobia of needles, but will do anything to have a child. He also told me that I would have more frequent ultrasounds, but that I really wasn't high risk. I guess what I want to ask is, should I start heparin shots and extra folic acid before becoming pregnant or wait until I go in for my first visit. I have those questions to ask the doctors on Monday, but I'm a little anxious and would like to hear what you all have to say.
Good Luck to all of you trying again. ↑
Name: gigismith | Date: Jan 18th, 2006 7:03 PM
I'm finding not all doctors say the same thing. I went yesterday for my baseline ultrasound before starting the Clomid and IUI and talked to him about the MTHFR and he said according to the fertility specialist I will have to do LMW Heparin shots as soon as I get a BFP because I have the double gene and an elevated homosyteine level. I am currently taking the Folic Acid, and Vitamin B6 and 12. I now believe the miscarriages have saved my life for the future. People like me who have this condition could have, hardening of the arteries, stroke, heart attack and vascular disease. I will be considered High Risk and will be monitored more closely but if that means having a healthy baby I'll take it. ↑
Name: Erin | Date: Jan 19th, 2006 9:14 AM
You will only need heperin if your homoscystine levels are elevated. I am compound heterozygous (two different mutations on the same gene, rather than double mutation, or just single mutation). I am on FOLTX and baby aspirin. I am seeing high risk doctor for the first time. I'm having an ultrasound and am terrified, as this is where I lost my last baby, around nine weeks. I had seen the hearbeat that time too, so I am a wreck. ↑
