c677T and a1298C mutations :/ [update bottom of page 1]

[heather_dw]

My doctor ran a bunch of bloodwork after my last miscarriage a few weeks ago (2nd m/c for me). They found out that I have mutations on C677T and A1298C. The doctor has put me on Fish Oil supplements and baby aspirin. She also said that the second I find out I'm pregnant again, to start taking Prometrium and call her office to get 5mg Folate pills. I'm just worried that these gene mutations mean that I'll never carry a baby to term and if I do, will the baby have lots of problems?

Anyone had these mutations and gone on to have a normal pregnacy/baby? I'm worried!
I'm not even sure it will work. I'm such a worrier!

 

[Perdita]

I'm sorry but I don't know anything about your specific situation but the only thing I can add is why wait to start taking the high dose folic acid? I'm diabetic and when I said I was going to try again the doc put me on 5mg folic acid straight away and told me to keep taking it! So much development happen in the early stages and if you don't find out you're pregnant till quite late then the opportunity for it to do it's best work has been lost! It was a suprise I fell pregnant so hadn't been on anything - it didn't have anything to do with the stillbirth but felt have to do all I can to get the best result.
Anyway - something to ask about, good luck and they don't put you on tablets unless they are at least hopefull it will do some good!
xx

 

[NGRidley]

https://www.kimballgenetics.com/tests-mthfr.html

 

[roonsma]

I agree with Perdita, you need to start taking your 5mg folic acids now!!!!xx

 

[heather_dw]

I forgot to mention that she also referred me to a specialist. She says they can explain what my test results mean. I asked her "didn't you just do that?" and she said "some people like to hear them from more than one doctor". I wonder if she thinks I have something else wrong, or if she's just covering her bases.

It's way down in St Louis, I think, so I'm not sure what I'm doing. I can't find the card she gave me to make sure, but I'm still searching my purse. Gah!

 

[hoping:)]

I have the C677T mutation so that makes me heterozygous MTHFR. Since you have both you would be homozygous. Lots of people with MTHFR have gone on to have healthy babies so there is hope for us I had 2 miscarriages last year... 1 chemical and 1 blighted ovum. They had me on one baby aspirin and extra folic acid (5mg) a day and then once I got pregnant in May I started daily injections of Lovenox. Sadly I miscarried twins this past Sunday. This was the only pregnancy where I got to see the babies and their heart beats on an ultrasound so we made a lot of progress. There was something wrong with one of the twins and when I started to miscarry that one I ended up losing both We are hopeful for the next pregnancy because we know that MTHFR can be fixed.

Good luck to you

 

[heather_dw]

She has me taking my prenatals (that already have the 1mg folic acid in them). I've been taking them since February. However, she took blood yesterday to check my HCG, since it went up, not down the last time they took it. I KNOW I miscarried though, because of all the stuff that came out.. (sorry to be gross, but.. yeah.. ). They are also checking for homosystein levels and for Folic Acid levels. I'm worried that she told me to wait for a ++ test before calling for the Folic acid 5mg, but maybe she's just waiting to see what these blood tests say to make sure I really AM low on folic acid first?

I feel like I'm extra messed up, since I have two. It's got me kind of stressed today just thinking about it. The doctor told me to see myself as a mommy. She says "I can see you as a mommy. I can see you pushing a stroller with a baby and knitting cute little baby things. I CAN SEE IT!" Hubby doesn't seem to worried either. He's just like "well, the folic and the aspirin will help it. End of story". He doesn't understand why I'm as upset about this as I am.
I'd like to do what the doctor says and imagine being a mommy, but I don't think I can. It's really painful to think of those things when I'm scared it's never going to happen.

 

[Amos2009]

Hi Heather- I also have the C677T mutation. My test results actually read- "Two copies of the C677T mutation were identified". Is that what you have also? I put myself on baby aspirin 2 months ago and we haven't really been TTC so I don't know if this will help or not, but I am hopeful. My homocysteine level was also high and my folate level was low, so I am on something called "Neevo". I think it is just a high powered folic acid prenatal vitamin. Don't know if this helps any, but I wanted you to know you are not alone.

 

[heather_dw]

I'm heterozygous for two separate mutations, so it's a bit different than yours, but I think we still carry the same amount of risk.
I just heard from the doctor's office.

Folic acid level was HIGH
Homosysteine level was NORMAL.

I'm really worried. With my gene mutations, those results should have been the OPPOSITE of what they were. Also, my HCG went up to 61. I'm not pregnant, but...

They scheduled an ultrasound for the 19th, after my Maternal and Fetal medicine specialist appointment. I might have to schedule a D&C if they find anything (plus, I absolutely HATE getting pelvic ultrasounds). I'm really upset about all this. If these gene mutations aren't the issue, I guess I have another issue altogether? I'm not sure how much more I can take at this point. Ugh

 

[HappyAuntie]

Hi Heather -

I was also just diagnosed heterozygous MTHFR after two losses (no successful pregnancies yet). My dr did a great job explaining it to me, and I work in health care and took a lot of genetics in college xxx number of years ago, so here's what I know....

We all carry two copies of every gene in our bodies - one from your mother and one from your father. In a heterozygous mutation, one of those two MTHFR genes is mutated. (Hetero = different, homo = same.) Your labs show you have two separate heterozygous mutations, one of MTHFR c677t and one of MTHFR a1298c. But having two heterozygous mutations isn't the same as having one homozygous mutation.

According to my rmc specialist, MTHFR mutations are only known to cause a problem in pregnancy when it's a homozygous mutation, when BOTH copies of an MTHFR gene are mutated (like Amos). This causes an elevated level of homocysteine (an amino acid) in your body, and it's the homocysteine that actually causes all the trouble. The fact that your homocysteine level is normal is good news, and it's exactly what would be expected for having a heterozygous mutation. Amos' labs are exactly what would be expected for a homozygous mutation.

According to what I've read, close to 40% of the general population is MTHFR heterozygous. I've also read that because that percentage is so high, a lot of drs don't actually check your MTHFR, and only check homocysteine levels instead - almost half of the women tested are going to be heterozygous and it freaks us out when it doesn't really necessarily mean anything in regards to our pregnancies.

Now, that said, my dr has elected to go ahead and treat me for it anyway, since the "fix" is simple and can't hurt me or a future baby, and it helps me feel like we're at least doing *something* different next time (other than just crossing my fingers and hoping for the best). He has me taking one baby aspirin/day and up to 4 mg of folic acid/day total. My pre-natal has 1 mg, so I take OTC folic acid to make up the difference. He also has me starting prometrium on 3dpo every month until I get a BFN (or hopefully a BFP, in which case I keep taking it!) He also mentioned Lovenox was a possibility, but I don't feel ready to go there yet...

If you have questions, perhaps go ahead and see the specialist in St Louis, or at least call and see if he/she or the office staff can answer some of them over the phone. I always find that information is the best antidote to worry - the less I know, the more horrible scenarios my brain imagines!

Hope that helps.

 

[Amos2009]

Thanks Happy- very well put!! Heather- the fact that your homocysteine levels are normal is wonderful! Not only for future pregnancies, but for yourself. I will have to stay on meds the rest of my life for this, but I am thankful I found out. They say a lot of the young people that die from strokes and heart attacks have my mutation and never know it. So, in a way, having all these miscarriages has actually saved my life I believe. As heartbreaking as they have been, I know things happen for a reason and I think that was my reason.
Fingers crossed for sticky beans for all of us!!!

 

[heather_dw]

I actually talked to my doctor on Facebook last night and I asked her why my test results were the way they were. She said that "she didn't know, all the more reason to see the specialist". That didn't make me feel better. I do have the specialist appointment on the 19th. They're also going to take blood from me at the OBGYN that day to check HCG again and then I have to go to the hospital for a pelvic ultrasound. They want to check to see if there is anything left from the pregnancy that would be causing my HCG level to do what it's doing. I might have to have a D&C, but I started bleeding last night. If I counted the first day I started bleeding with the m/c as "Cycle Day 1", I would have only been on day 21 yesterday, so it's not time for me to bleed. I'm wondering if I did have something left in my uterus and my body is getting rid of it on it's own finally.

The thing that worries me the most about all this, is that if my homosysteine is not high and my folic acid is not low, that means that there is another reason entirely for my miscarriages. So.. I guess something ELSE is wrong with me? I worry that it's either 1: something super bad or 2: they won't find a reason at all and they won't have anything to "fix" to prevent this in the future.

 

[HappyAuntie]

the sad fact is that most miscarriages are caused by random chromosomal problems with the baby - most women have absolutely nothing wrong with them, and we'll never be given a "diagnosis" or cause for our losses. Even after two consecutive losses with no successful pregnancies, statistically it's still most likely the case that the two losses are completely unrelated to each other - each one was a random chromosomal error with the baby - nothing causes it, nothing can prevent it, it just happens sometimes. And statistically, it is most likely that the next pregnancy will be completely normal without any medical intervention. I know it's of absolutely no comfort, because it's the situation I'm in myself, but those are just the facts. It's not until you have three consecutive losses and no successful pregnancies that you are likely to have anything at all wrong with you, which is why a lot of insurance companies (and the NHS in the UK) don't do any testing at all before then.

I'm sorry, I know it really isn't helpful, but I hope it explains the situation a little more. The specialist may be able to run more tests than your dr did and look for other potential causes, but they still may find there's nothing wrong with you.

In the meantime, try keeping a list of every question that pops into your head, and take that list to your first appt with your specialist. I have a giant notebook I take with me every time I go! It really helps me make sure I get all my questions answered.

 

[heather_dw]

Thanks! That does help a little. I think I'm going to call the specialist's office and give them a heads up about these latest test results and see if the lady who answers the phone will notate my chart so that the doctor can address this. Maybe if I give him a heads-up, he'll have time beforehand to look at this.

I'm also going to ask if they want me to fast, just in case they decide to take blood. It's a 10am appointment, so that wouldn't be too difficult.

 

[heather_dw]

I did call. The lady said she would put in an order with the OBGYN's office to get ALL my test results and she'd put them right on top of my chart, so the doctor will see them when I come in on Monday. The OBGYN is right down the hall from the Fetal/Maternal Medicine specialists, so it shouldn't be hard for them to get