MTHFR?

[Anonymous]

No, it's not an abbreviation for a curse-word. I was just diagnosed with this and was wondering if anyone else out there is in the same boat. I understand the basics of what it means and how to treat it but I'm interested in hearing anyone's first-hand experience.

[Anonymous]

I had one (vs two- sorry- it gets fuzzy after a while) are you positive for tboth? for one- they don't do anything do precuationary recommend baby aspiring when ttc- which is what i did..

[Anonymous]

I just got my diagnosis yesterday so I'm not sure. I did some reading and understand there are different kinds of it -- just not sure which one I am. I lost my baby earlier this year at 15.5 weeks so I think they will be much more aggressive with me. I will most likely inject blood thinners instead of just doing baby aspirin. I just found out I am to see a perinatologist to discuss this prior to starting my next treatment cycle (first IVF - yikes!). So did you have a healthy pregnancy with the baby aspirin? How were you diagnosed with MTHFR?

[Anonymous]

I am a double MTHFR (DH loves to say that) and have another clotting disorder. I was diagnosed after multiple episodes of heavy bleeding at 14-15 weeks - luckily, the baby was fine but it was some scary scary times. AFter repeated episodes and ER trips my OB suggested seeing a peri, who after hearing my situation ran blood panels and discovered the clotting disorders.

I was on Lovenox for the duration of my pg (no baby aspirin, in fact had to stay away from aspirin and ibuprofen during that time). THe shots were no fun, but obviously I was willing to do whatever it took to keep the little one safe and growing. You can expect some extensive monitoring - I had to get my blood tested fairly frequently in the beginning until we got the Lov dose just right, and visited the peri every 4 weeks for ultrasounds in the beginning ( to confirm growth, etc. and make sure the clotting disorders werent causing issues with the baby), andd the more frequently at the end (i only got to the ever 2 week period before delivering my baby, who came 5 weeks early - but the last 5 weeks were supposed to be weekly appoitnments/ultrasounds. It was pretty cool to get all those ultrasounds and have confirmation that the little one was doing OK.

You will have to cycle off lovenox prior to delivery. You'll want to be on heparin instead, which is a blood thinner that they can "reverse" if you go into labor. As a general rule anesthesiologists wont touch a woman whos had a Lov shot in the past 24 hours to give a spinal/epidural, although at least 48 hours is the general comfort zone. That being said, I had a doc who ran some panels and gave me an epi 16 hours after my last shot when I went into labor unexpectedly. My OB was floored at that though - not from a safety perspective (apparently the risk of something bad is fairly remote), but just because anesthesiologists tend to err WAY on the side of caution in wanting people to be cycled off Lovenox. And erring on the side of caution makes sense, even for a remote risk - but boy am I glad my anesth. helped me out!

I'm sorry that you experienced a loss before discovering this. When I delivered, each nurse who read my chart noted my disorders and said "oh, so you had a few miscarriages before this, right?" - fortunately, that was not the case for me, but I understand most people don't discvoer these issues until AFTER something bad happens and the doctors dig a little bit deeper. Good luck - let me know if you have any more questions.

[Anonymous]

This is a client of mine...don't know much about what they do but maybe worth a try?
Pediatric Surgical Group
Annendale
703-560-2236

[Anonymous]

OP here. thanks to all for sharing your info and experiences. I have a consult with Dr. Ghidini/Poggi (the peri's at INOVA Alexandria) to discuss my treatment. It was kind of hard to make the appointment at first - the receptionist kept asking me who my ob was and I had to keep re-explaining that I'm not yet pregnant... But I did eventually get her to make me an appointment! My RE said he'd likely err on the side of caution and do injections but he wanted me to consult with Dr. G and P as they would be my peri's once I become pg. (do you like my positive mindframe of using "when" and not "if"?!?!) So, I'll know a lot more after my appt in 2 weeks. Thanks ladies.

[Anonymous]

Good luck, OP. FWIW, my peri said that next time we TTC I'll likely get on the shots while *trying* just to keep the clotting factor down. Keep in mind (and obv. your doctor will know this, but FYI for you) that your clotting factor increases in pregnancy - so you may only need to be on baby aspirin while TTC< or a low dose of lovenox/heparin, but when (again, not if!) you do get pg, you'll need to have your clotting levels checked and your meds adjusted so that you reach a good equilibrium again.

[Anonymous]

Hi --

First, I am so sorry for your loss.

I am positive for MTHFR, homozygous, meaning I have mutations on two alelles (sp?) of the gene. This is having "two" as someone has said. I was diagnosed following a pregnancy loss at 6 months. I did become pregnant again (like you, I had to do IVF, in fact the first baby was an IVF pregnancy as well). My second pregnancy was successful, in fact doubly so, twins). They are happy and healthy today. We just got home from the park.

I was VERY nervous throughout my second pregnancy. But things were fine. The Lovenox shots are no big deal, especially if you've done IVF! They are nothing. And plus, it's a whole lot easier emotionally to do injections when you are already pregnant. The resentment isn't there.

When you meet with the peri, you may want to ask about being seen by a hematologist. I saw a peri for pregnancy management, but also saw a hematologist once a month. I would do blood work once a month, and at my appointments with the hematologist, she would check me over and review the blood work. The blood work would just check to make sure certain levels were within normal. She would periodically raise my lovenox dosage (based on the amount of weight I gained -- the heavier you are, the more blood thinner you need.)

I did NOT do the Lovebox shots during IVF. But I did take baby aspirin. I then started the Lovenox right when I got a positive pregnancy test.

That's a little bit about my story -- I wanted you to know that you can have a successful pregnancy. It's more intensive, because of all the additional monitoring, but I liked that, because it made it so that I rarely had a week or two without seeing a doctor. Also, even though it sucks to get the diagnosis, in some ways I found it easier to have an explanation for the loss. And it made me feel better when pregnant again. I knew we were doing something to prevent it from happening again.

And yes, we call it the "mthr fcker" gene -- the severity of the curse matches the severity of emotional pain it inflicts on some people!

Best wishes.

[Anonymous]

16:52 poster, thank you very much for your condolences. I'm sorry that you, too, experienced a loss. It doesn't seem fair that after IF we also have to deal with loss. I very much appreciate you sharing your experience and advice. Were you in this area during your most recent pregnancy? I have heard good things about the peri that I have the appt with but I don't know any hematologists in the area. Would you recommend the one you saw? I can imagine that it may be a pain to see a regular ob, peri and hematologist, but like you I am guessing that the extra reassurance will give me peace of mind.
I called my nurse yesterday and found out that I am homozygous as well, so I, too, am a double m*ther f*cker. Nice to see that we can keep a sense of humor through all of this! Thanks to all!

[Anonymous]

I think it is hilarious that you also call it MTHR FCKER as we do as well in this house!!! I'm a new poster, positive for MTHFR (heterozygous) but I'm also positive for another clotting factor AND to top it all off, have a mild form of hemophilia. I had too many pregnancy losses, including a stillborn son, until I was tested, learning of these problems. Because of the hemophilia, my treatment would be much more challenging (can't take blood thinners) so sadly we couldn't pursue future pregnancies. I just had to jump in to say that I got a good laugh when I read what you call MTHFR.

[Anonymous]

If the OP is still out there --

I'm the 16.52 poster. The hematologist I saw was at Georgetown University Hospital (as was the peri). The hematologist is no longer there, but there is a team of them, and they have a good reputation. They work out of the Lombardi Cancer Care Center there. That said, I'm sure there are others in the area that can provide the same level of care. I just think it's important to ask. It's possible that your peri can order the same bloodwork. Also note that in some practices (such as at Georgetown) you can be monitored only by a peri. I did not go to a regular OB, just the peri, so it wasn't as many appointments as it seems.

I know someone who had a blood clot develop during pregnancy. She and her baby ended up fine, but she was also monitored by a hematologist, and I believe she was at GWU.

Best of luck with everything!

[Anonymous]

OP here - thanks for posting back. My consult with the peri is tomorrow so I will ask if they suggest throwing a hematologist into the mix. My RE made it sound like I would just see the peri. Now that you are no longer pg, do you see a hematologist occasionally to check up on things? Do you take a baby aspirin each day? Did your hema talk to you about telling your family to get tested? I hope I come out of my consult tomorrow with some answers and not so many questions!

[Anonymous]

Hi -- I'm the one who say a hematologist throughout my pregnancy. I now see one once a year, just to have my blood levels (homocysteine (sp?) checked. But other than that, I do nothing except take a high dose folic acid vitamin. No baby aspirin. The hematologist says intervention would only be warranted in high risk situations such as (in addition to pregnancy) long periods of immobilization, for instance, if I was recovering after surgery.

One note -- after pregnancy -- there may be issues with birth control pills, if you desire to go on them. They can put you at a higher risk for blood clots, so some docs say no. Some say it's okay. But to use them just as part of the IVF protocol is no worries from what I understand. It's only long term use that is of concern. This is currently causing a problem for me, as I have homonal imbalances (thus the fertility problems) that would be easily corrected with birth control pills now that I do not want to conceive. They're trying to figure out other alternatives, but none are as easy as the pill.

My doctor did not suggest my family get tested, but my brother, who tends to be a hypochondriac, requested it. He did turn up positive, but he doesn't know if it's for one or two -- I'm not sure he really understood the whole issue. But since he's a male, his changes are ever having a problem are so much smaller. Pregnancy is one of the biggest clotting risks. I never knew that before being pregnant.

Good luck -- and I encourage you to ask as many questions as you can. If I didn't ask questions and keep asking until I understood, I would not have my children today. When you have unusual issues, and a combo of them at that, you really have to be your own health "manager."

Best of luck.

[Anonymous]

OP here - Okay, I just got back from my perinatologist appointment. He said that since I only have MTHFR (and no other clotting disorders) there is no indication that I should jump to lovenox. He said current treatment is just vitamin B and folic acid, which I'm already taking. I started to get really emotional because in my mind, lovenox is what would prevent me from another loss. He pointed out that if I use lovenox but don't really need it I could get in worse trouble - he used an example of developing a small tear in the placenta and bleeding out and having an abruption. He said "then you would come to me and ask if the lovenox caused you to lose that baby." Ugh! He doesn't beat around the bush! He said that if I had another m/c then we could re-examine but at this point there is no reason for me to be on lovenox. I understood everything he said but I am still a little scared. He did give me a script to have my homocysteine levels checked but he expected that they would be fine since I am taking folgard. He said if you use lovenox now it might make you feel better emotionally but medically it is not necessary and could be worse for you. Logic and my emotions are having it out inside my brain right now! Any thoughts from the peanut gallery?

[Anonymous]

I have the same MTHFR gene and have unfortunately had 3 m/c and one live birth. I was able to have her by taking a few things- FOLT-X, baby aspirin, Prometrium early in the pregnancy (not orally btw) and worked w Dr. Hassan at Maternal Fetal and Assoc in Silver Spring. Good luck and god bless.