Lorraine... Please ignore that. I'm terribly sorry. It was someone close to that name and the same terminology was used and all the anger she caused me came swelling back up again. Please forgive my mistake! I truly apologize to you and the ladies here. ↑
Hello. I have a question. I am compound heterzygous for the C677T and the A1298C MTHFR gene abnormalities. I posted a little background earlier in this forum. The Dr wants me to see a genetic counselor, a perinatalist and a cardiologist. Is this excessive? What does the genetic counselor do for you and did anyone else have to see a cardiologist? I have always had excellent blood pressure and I am physically fit. I know things can be going on inside that you can't see, I just wondered if any of you had to do this as well. ↑
Hi Krista - have you had your homocystein levels done? The hetero compound can cause elevated homocysteine, which can affect the heart (less than the homozygous, but sill possible.) You dr is probably just covering all bases. I would get the full workup (I'm going to ask my primary care dr for same, just to be safe, even tho my homocysteine levels are normal.) It is also always good to get baseline tests done, so they have something to compare them to later. On the genetic counseling, it can't hurt. Has your husband been tested yet? That will help the genetic counseler give better advice, I would think. I'm still confused about what the implications would be if my husband tests positive for any mutations in MTHFR - he hasn't gotten the results yet. Best of luck to you! ↑
Hi, KristaM, I am also compound heterozygous for 677T & A1298C. I think it's great that your doc wants you to investigate this further. My RE hasn't offered much other than take extra folic acid & let's jump in again! I have one frozen embryo left from my last IVF prior to pg & m/c. I'm curious to see what these other specialists have to say. Please keep us posted. ↑
I can relate. I have a 9 year-old, but I have had 7mc's and lost my 6-day-old daughter. I have a balanced translocation which was found with a chromosome analysis. Recently I had more testing and found that I also have homozygous, an MTHRF mutation. Lucky for me I work for an infertility specialist. I am waiting for the rest of my blood results to come back before we discuss the next step. I was told that this mutation causes over clotting and can be corrected with daily injections after conception. Hang-in there, finding the problem is the hardest part. ↑
Hello. This is getting more complicated by the minute. We had my husband tested and he has the same exact situation as I do, compound heterzygous for the C and the A. Now not only are we having my parents tested but we will have his parents tested. This testing will try to determine in both of us if we have one mutation on each chromosome or two mutations on onechromosome. Testing the parents will help tell. There may be some difference if the two mutations are on one chromosome or one on each. One way may be better than the other. My Dr. thinks the C and A on one chromosome is better than one on each since it leaves you with at least one chromosome that is fully functioning. He also thinks that in general the A problem has less effect than the C, but having both together of course is not so great. Which Dr. ordered the testing of your homocystene levels? My OB says the cardiologist does that but I am not sure that makes sense. Can the OB order this? I can not get in to see the cardiologist until March 2 and can't get into the parinatalist until April 21. This is taking forever! ↑
Hi Krista - my RE ordered the homocysteine test. I think it makes sense to do b/c the hetero compound mutation doesn't always result in elevated homocysteine. My levels were normal, so my RE doesn't think that caused the MCs, altho she is keeping me on folic acid anyway. If yours aren't elevated, that may not be the cause. Since both you and your husband have the same mutation, I guess a genetic counselor could help determine any risk to the baby genetically. We are still waiting for my husband's results. I'm sorry you're going thru this and understand your frustration. It seems like all this should be so easy and, for me at least, it is so hard. I just keep worrying that I'll miscarry again. I'm considering IVF partly so the embryo can be genetically tested first. Best of luck - keep us informed. ↑
KristenR: Thanks for responding. This may be an entirely ignorant question but what is an RE? What kind of Dr. is that? I am fairly new to all this terminology and the only Drs I have been referred to do not have those initials, so I'm lost. Thanks ↑
Hi Krista - RE stands for Reproductive Endocrinologist. I believe that they work with all kinds of hormonal issues, but also tend to specialize in fertility. If you are seeing a fertility dr, s/he may be an RE. ↑
Hi,
I was curious to see if anyone has any advice for me. This board is huge and I'd appreciate any input. I have m/c 4 times in 3 years. I have 1 healthy daughter. My last m/c in December revealed a chromosonally normal baby girl. The baby's h/b stopped at about 7 wks. I had previously been diagnosed with a Protein S dificiency and was taking baby asprin prior to conception and Lovenox upon the + HPT. Since this didn't work, I went back to my RE and she did more testing revealing that I am compound hetero MTHFR and she prescribed 4mg folic, b12 and b6, baby aspirin, lovenox when pg (and calcium supplement). Has anyone ever had these two combined? I just feel beat. I don't know if I can move forward or just let it go. I have also been referred to Dr. Collum in Chicago for immune testing. I was just looking for some insight if anyone could help. Thanks for reading.
Hi Lesley~ I noticed that you posted a couple of days ago and didn't want you to think that your message had gone unread. I have one MTHFR mutation (A1298C). I am so sorry for your 4 mc's...I have had 2 in the past year myself. We are currently trying again, but I know what you mean about feeling beat. I feel emotionally drained, and I am constantly on a short fuse, which is not how I am at all. I would just say that the immune testing is a good idea. I have been tested for various autoimmune disorders, as well as diabetes, anticoagulant factors, etc. Many doctors are just beginning to understand MTHFR, so I say it's always best to rule out as many things as possible. Hang in there! Best of luck to you...keep us all posted. :) ↑
Hi ladies. I am honored to be the first male writing on this forumn. You women are all so strong and I applaud you. My wife went to pick up our blood test results yesterday afternoon, and you guessed it...MTHFR. She is Hetero Compound and we have had 2 mc in the past 6 months. Our first mc we were not closely watched and tested so the doctors checked my wife's health and assumed the baby was healthy too. 4 months later during our FIRST ultrasound, we saw that the sac was empty. Chances are the sac was always empty and because of our lack of care, we just never knew about it (it was devistating, not to mention the day before my brother was married). So it was chalked up to Blighted Ovum and not looked into again. 2 months and a new Gyno later we were pregnant again. This time we were able to see the empty sac at 4 weeks. So my wife had her second D and C this past Dec. Although tough again, it's much better knowing at 4 weeks then at 4 months. So now we at least have hope for the cause and because of you ladies a "cure" for what's been going on. We go to the docs this Tuesday to get an explanation and better understanding of our results. Honestly...after the first bit of searching I did on the internet, I was very discouraged and 2 clicks away from throwing in the towel. You women are a God-send and I have a newfound hope for what lies ahead and the possibility of children. My wife and I are both 26 which easily proves this MTHFR does not discriminate by age. What should be some of the core questions we ask our doc this tuesday? Thanks in advance. ↑
Amy Nog,
I also have A1298C and have had 2 m/c's. My original post here is above on January 6th. What precautions is your doctor taking with you? What meds are you on as you ttc? I'm taking Primacare prenatal vitamins and a complex B vitamin. ↑
Hello to all, my daughter is pregnant with her third, with no m/c, but I have had several, so I have been there. Back to my daughter. She found out at the age of 21 that she has a rare form of closed spina bifida, then right after found out she was preg with baby #2, With baby #1 she had severe eclampsia but a good outcome for both. With baby #2 severe eclampsia and gestational diabetes, and during labor, a complete placental abruption, but thank god, I refused to take, "this is all ok" from the staff ( I do have six kids, used to work in labor and del, and I am also an EMT), so I thru a major natural redhead fit, and we got the baby delivered right away, but he will be in April and is still having respiratory issues. Back to baby #1, M developed some blood clots from the iv's etc's but the doc's didn't think much about it. then with #2 she had even more and some between the pregnancies. As much as I love grandchildren, I begged M not to have any more, that her boys need her and I know how hard it is to have a m/c and never want to see her go thru that. But she developed more blood clots while on the birth control patch and was taken off it and immediately became preg again. This time they have sent her to a high risk specialist, and he in turn is also having her seen by the "premier" profss at Ohio State Univ. He did all of this blood work among others, and he told her she has this issue. But my concern is in that, #1, he is old and very busy, so does he really keep up to date with improvements in treatments like he shoudl? #2, because he told her the "only cure for this was to take her prenantal vitamins and pray" I was there, those were the exact words he used. As an Emt and a knowledge searcher, it seems to me that she should be doing what you are doing, baby aspirin, heparin, etc. What should I do? And to the newer lady who is needle phobic, as am I, don't let any one convince you otherwise, heparin hurts, and only you can decide how much pain you are willing to put yourself thru to "have a homegrown" child, as I call birth children. I also have adopted children, and while it isn't for some, know that you only substitute one form of pain for another. My prayers are with all of you. My first preg was a m/c and I about had a nervous breakdown over it. Myworst one was an unexpected preg that I wasn't too thrilled about that day, I was soooo sick, Had five kids, marital issues, etc, and then I had a miscarriage that night. The guilt about killed me, litterally! To this day, there is a part of me that still believes that my stress at the suprise of it that day willed it to happened and I should be allowed to live because of it. But I was blessed with a beautiful healthy baby girl a year later, after the absolute pregnancy and delivery from hell. GIrls luck ladies, and one more thing, sorry, age doestn't have crap to do with it, my daughter is 23. ↑
Hi Nate, I'm really sorry to hear about your losses. I would ask your doctor to have your wife's homocysteine levels taken. If she has elevated levels, this could be a cause of the mcs. If not, they may tell her what I was told, that the MTHFR mutations were not the cause. I'm not sure I believe that and there is much controversy among Drs about it. But in any event, she should probably take folic acid and possibly heparin during the next pregnancy (that, at least, most seem to agree on). I would also make sure that they test you too. If you have one or more mutation yourself, this could affect the baby's DNA and therefore its viability. Sorry to sound clinical about it, but in cases like these I think knowledge is our best bet - all of us. I wish there was more known about this and whatever factors probably interact with it. We are still waiting for my husband's genetic test results. We may go to IVF b/c of the prenatal genetic testing. When we end up getting pregnant again, assuming we do, I'll be taking folic acid and heparin shots. Best of luck to you both and please let us know what you find out at the doctor's office on Tuesday. ↑
Hi Kristine~ I am sorry for your two mc's. Mine occurred at 7 weeks and then 9 weeks. I am now on Folgard, which is a combo of folic acid, vitamin B6 and B12. I am also taking a baby aspirin each day (although I know many doctors don't recommend this until a positive preg. test). Like you, I tested negative for Factor V, and I was tested for Factor II (neg. also). Who knows...this is all so confusing. The doctors told me that my single mutation most likely is not the cause, but I meet more and more people like you and I who have miscarried. I am 33...and although my doctor seems to think I am still 'young', this whole process is wearing me out. I hope that this helps you somewhat. Keep me posted. :) Best of luck to you. ↑
Amy....Wow! We are very similar. My m/c's were at 6 and 7 weeks. My doctor told me not to take baby aspirin until I got a positive test . She also said I am still young..... 33 like you!! Well I don't feel it. I feel like I am very behind with starting a family. Also, two doctors told me the single mutation may not be the cause. In a way, I am grateful that I do not have some of the complex medical issues that many of these women post but what is causing me to lose the pregnancies? No one has an exact answer. I guess it is in a higher power's hands so to speak. Good luck as well xo ↑
Hi, everyone - this is such a great discussion about this very confusing disorder. My sister tested positive for compound heterozygous MTHFR, and I recently had my blood tested and found out that I also have it or something similar. I'm not sure yet since the nurse just called me and said I should have a consultation with my doctor to find out more information about the results, which I couldn't schedule until 3/15. Anyway, neither my sister nor I have started trying to get pregnant, but since I am 33, my husband and plan to start around june this year. My question is about other symptoms that exist withthis disorder, My sister said that her doctor told her that it caused other problems, like headaches and exhaustion, and I was wondering if any of you had anything else to add. I have a lot of headaches and frequently feel tired, so I am hoping that maybe all that has something to do with the MTHFR and can be treated. I am already taking folic acid (have been for at least a year in preparation for pregnancy, anyway), but i would appreciate any other advice. Thanks! ↑
Hi everyone. My name is Cheryl and I'm 36. I echo that this is the first place I've found with real info on MTHFR. I just found out, after two miscarriages, that I have the homozygous MTHFR. My genetic counselor advised me to take 4mg of folic acid and baby aspirin. He advised me against Heparin, since I have no history of blood clots and have had two healthy, full-term pregnancies before I started miscarrying. I'm looking for advice from you on a few things: I have not had my homocystein tested yet. Who orders that test? Can I go to my primary?? Also, I haven't been taking any extra B vitamins just the extra folic. I'm interested in Folgard and Folex from this board, but it doesn't seem to have 4mg. Are you ladies taking it several times a day?? And finally, considering I have the homozygous mutation, should I go straight to the perinatalogist instead of my OB?? Thanks in advance. ↑
Erin. My sister has this and it caused her to lose a baby when she was 5 1/2 months pregnant. The hardest thing ever to witness. She went on to have a healthy child a little over a year later and everything was fine. She did have to take Lovenox injections starting around her 3rd month and continuing until she gave birth. YOU CAN NOT AND I REPEAT CANNOT TAKE BIRTH CONTROL PILLS after being diagnosed with MTHFR!! It is a blood clotting disorder and can cause a stroke or heart attack at a young age, and please don't smoke either. This is a very serious disease and should be treated as so. Good Luck. ↑
Annie, I am so sorry for your sisters loss. MTHFR is a gene that everyone has. Problems come when there are mutations on it. I am now sure of only one thing, that this has to be far more complicated than it appears. From what I have read above, people can have the mutation but it is causing different things to go on in different women. Most are taking extra folate/b12/b6 but the mg needs can vary. Some are only taking aspirin while others take injections for the blood clotting component. Does everyone have this blood clotting part? I just had my homocystine levels checked, I'm still waiting for the results. I have the compound heterozygous (the C and the A) mutation scenario and I believe it may have contributed to my 2 miscarriages in some way. Finding out as much as we can may narrow down how. Is it my homocysteine levels, is it the blood clotting factor that has been mentioned, could it be the fact that my husband has the double mutation as well? Trying to understand this, if it is my H levels, why could I have 4 children and then start having miscarriages. It could be the way the mutations are placed on the chromosomes. My double mutation could be on one chromosome leaving the other one fine. My husband, having the double mutation could have them both on one chromosome as well. I want to know how viable a baby would be if they got my double bad chromosome and his double bad chromosome from this gene. We are getting tests done on our parents to see if we can tell where the mutations fall on the chromosomes. We either have one mutation on each chromosome or two on one. Could this alone could have caused the miscarriages or homocystien or, or, or. Testing, testing, testing. We will meet with Dr.s that will attempt to tell us the answers. Hope to all of you. ↑
Hello all. Well my wife is off to the doctor's office now to discuss the meanings of our results. Compound Hetero for C&A as a recap. I'm anticipating him wanted to have me tested and in the meanwhile putting my wife on some of the things yall are on. I have a question to you ladies that have been blessed enough to have had children before/during/after finding out you have had MTHFR... Due to the fact that this is new and there hasn't really been any concrete studies on the children, have you noticed any development issues with your kids or do they seem to be as "normal" as the next family that doesn't have the mutated genes? I mean granted, many of you have stated that you've had 1+ children at one time or another and they have been "healthy" (which is all that I can ask for), but what if anything is there to say about how MTHFR has effected a childs early-late developments? Honestly if my wife and I can make it through a healthy pregnancy and birth, I will be overjoyed and greatful. But this might be good information to prepare those of us that haven't had children yet so that we can be better prepared. Any information would be appreciated as usual. ↑
Hi Krista - I think you've summed up the complexity well. Those with the homozygous mutations have more to worry about on their own health than heterzygous. In either case, the levels of homocysteine can be high, though. I wonder if these fluctuate regularly or increase with age? If homocysteine was the cause of your miscarriages, that would be an important question to have answered. If the problem was the baby's own DNA and not your own homocysteine/folic acid levels, then that's is another difficulty to overcome. I'm in the same boat, but know my homocysteine levels are normal (at least on the day I was tested), but don't know my husbands genetic test results yet. I wonder if we both have mutations if that could be passing enough problems onto the fetus to cause it to miscarry. I'd be very interested in what you learn as you continue. I don't have any kids, but otherwise we have similar situations. I'm heading in for another IUI this weekend. We're considering IVF if that doesn't work, but I'm terrified of going through all that only to miscarry again. Good luck, all, and don't loose heart! ↑
Kristine~ We are very similar! Let's hope that 33 is the magic number. Well actually, at this point I would be 34 by the time I have a baby. I do know what you mean about feeling a bit behind...and this just adds to my angst. And every miscarriage just puts me behind another 3 months or so. However, I guess we can't think like that. There is hope for all of us here...we just have to keep persevering! :) ↑
Nate ~ First I want to say kudos to you for sticking yourself out there and posting to all of us ladies. I want to respond to your entry from earlier today. I am a special education teacher working toward a doctorate (not a medical doctor in the least). However, I have seen and worked with many children who have Trisomy 9, Trisomy 18 and Trisomy 21 (commonly called Down's Syndrome). My second miscarriage resulted in a baby who had trisomy 22. I am positive for the A1298C MTHFR mutation; my husband's DNA is normal. I was at first concerned that the trisomy 22 was caused by my MTHFR, but our specialist told me otherwise. He chalks this up to a fluke, and although it is scary - we will keep trying. I have learned though that increased cases of spina bifida are linked to people with both the A and C mutations. I am sure that ladies here who do have children (I don't yet) can attest to the fact that there are many 'typically developing' children out there. I hope that this helps you even just a little bit. Best of luck to you and your wife...please keep us posted about your results. :)Amy Noggle ↑
Hi all - I am the one who initiated this thread. I am happy to report that I am now almost 14 weeks pregnant. I have had several diagnostic ultrasounds and blood tests and all looks good. I am under the care of the Maternal Fetal Medicine Practice at New York University and they know their stuff. My homocystine levels turned out to be extremely normal. Nevertheless I have been taking FOLTX and a baby aspirin every day sinc two weeks prior to conception. They are against giving me heperin and lovenex. Although they are keeping an eye on the MTHFR mutation (compound hetero A&C), they really do not feel that this has been the cause miscarriages (two blighted ova nine years apart, an ectopic and what appears to have been another due to a chromosomal problem), and I am beginning to think maybe they are right... Anyway, I have a nine year old daughter who is not only perfectly normal, but exceedingly bright and very pretty! She has absolutely no developmental problems, so don't worry. I stopped taking regular over the counter folic acid with her at three months, and had no problems. All blood work came back as VERY low risk (1:18,000) for genetic abnormalities/neural tube defects. I must have had the MTHFR mutation then, and for whatever reason, it did not effect that pregnacy. I will never know if it caused the others losses. I doubt the ectopic had anything to do with it. I am 37 now, and my age may have played apart. I had my homocystine levels checked several weeks after my mc at 10 weeks (baby stopped developing at 8 weeks) and they were smack in the middle of the normal range, so I would be surprised if they were significantly higher just a few weeks before. I have also smoked and took the pill for many years.... I guess I am lucky not to have had any clotting problems. Although I am not really sure how much MTHFR has had to do with my losses (I wish I could say it was THE ANSWER, and now I could rest easy), but I am glad to know about it and will take FOLTX for the rest of my life, and maybe the baby aspirin as well, to avoid a rise in homocystine levels. Here is the important thing to remember: if you are taking enough Folic Acid and B Vitamins, your homocystine levels will be NORMAL. If they are NORMAL, you will not develop BLOOD CLOTS. Baby aspirin is a nice insurance for that. Whether or not MTHFR mutations passed on to the embryo can cause mc is an entirely different matter, and one that specialists don't really seem to know that much about. It will be interesting to see what develops in the research in the next few years. All of this MTHFR stuff only came to light when they mapped the human genome. ↑
"Both the lower folate and increased homocysteine concentrations associated with CT and TT genotypes can be corrected by folic acid, even in relatively small doses. Therefore, our study provides new data underscoring the importance of public health intervention programmes of folic acid supplementation and food fortification targeted at all women of childbearing age to prevent neural tube defects. Such intervention may also turn out to have other public health benefits—for example, in the prevention of cardiovascular disease. "
And for all you compound heterozygotes out there: http://www.phd.msu.edu/DNA/mthfr_fact.html
So take your FOLTX or FOLGARD and relax. Feel lucky that this may be the cause and that Folic Acid really is an easy fix. It's like the progesterone deficient women (I used to envy them their luteal phase defects - easy to idenitfy and easy to treat!). Imagine having something that was harder to treat or impossible! Good luck to all!!!!
Also, I know a woman who had a baby diagnosed with a neural tube defect in the first trimester (she said they can pick it up quite easily on ultrasound most of the time). She was not checked for the MTHFR mutation (although she should be!). But, she is now 20 weeks pregnant and had her level 2 ultrasound and all is fine. The doctors put her on FOLTX the day she found out she was pregnant. She is not having an amnio. She terminated the last pregnancy and does not want to risk another loss, as all the blood and ultrasounds look good this time. She also had two healthy pregnancies 10 and 7 years ago, no mc's. It will be interesting to see if she has MTHFR. And if she doesn't, why the NTD? ↑
