MTHFR and ttc... who else is with me?

[dodgercpkl]

I actually have a couple of issues - PCOS, borderline hashimotos - but 2 weeks ago, I was diagnosed with homozygous MTHFR mutation. I truly feel that I've now found the reason behind my 2 mc's.

I've been doing a lot of reading/studying on my own so that I'm prepared with informed questions before I have my RE appointment (my first!) in 11 days. Because of all this reading, I've decided to switch out my vitamins/supplements to the active forms (methyl) of folic acid, b12, and b6 to do what I can to help my body so that's it's actually really ready for the next pregnancy.

I know that there are others out there with one version of this mutation or another, so I thought I would start a post and get us ladies together so we can cheer each other on, discuss what's working for us and what's not, discuss what dr's have told/prescribed us, etc.

Any takers?

 

[Storked]

I have some friends who have it. My form of thrombophilia is different however

 

[dodgercpkl]

What kind do you have Storked?

 

[Storked]

Heterozygous Factor V Leiden mutation. Quite a few people have the regular but the mutation raises my risk even more. Have one sister who formed huge clots in her legs and another who nearly died from a pulmonary embolism.

 

[dodgercpkl]

I was afraid that I might have that, but I tested negative for it. Did you get double copies then or just the carrier copy? My limited knowledge tells me that heterozygous means just one, but in my research on MTHFR, it seems it can also mean one in the case of alleles (sp?) affected.

I'm so sorry to hear about your sister! Is there a way to regulate it so that doesn't happen anymore?

 

[Storked]

I was afraid that I might have that, but I tested negative for it. Did you get double copies then or just the carrier copy? My limited knowledge tells me that heterozygous means just one, but in my research on MTHFR, it seems it can also mean one in the case of alleles (sp?) affected.

I'm so sorry to hear about your sister! Is there a way to regulate it so that doesn't happen anymore?

Just one copy. My doctor told me that if I was homozygous I probably would have died at a young age.
I have to be on blood thinners. Not all the time, like my sisters. Since I haven't had any complications yet I only take blood thinners when pregnant or on birth control. You have to take the blood thinners too right?

 

[dodgercpkl]

I'm pretty sure I will have to. I kinda found out about it backwards though. I had this testing done recently with a Dr outside of my health care insurance. My insurance company is sending me to an RE, so I requested all my recent test results from my outside dr, so that I would have them ready to give them at the RE appointment. That's how I found out about the MTHFR. I have my RE appointment in 11 days, so I'll hopefully find out much more there. From what I've read though, it seems pretty much the 'norm' to be put on blood thinners of some kind (herapin or lovenox are the 2 I've read the most about) when I get pregnant. My homocystein levels came back optimal though, so at least at the moment I don't seem to be having an issue with the clotting side of MTHFR. No idea what happens with it when I'm pregnant though.

Do you take baby aspirin too?

 

[Storked]

I'm pretty sure I will have to. I kinda found out about it backwards though. I had this testing done recently with a Dr outside of my health care insurance. My insurance company is sending me to an RE, so I requested all my recent test results from my outside dr, so that I would have them ready to give them at the RE appointment. That's how I found out about the MTHFR. I have my RE appointment in 11 days, so I'll hopefully find out much more there. From what I've read though, it seems pretty much the 'norm' to be put on blood thinners of some kind (herapin or lovenox are the 2 I've read the most about) when I get pregnant. My homocystein levels came back optimal though, so at least at the moment I don't seem to be having an issue with the clotting side of MTHFR. No idea what happens with it when I'm pregnant though.

Do you take baby aspirin too?

I don't take baby aspirin when on the blood thinners but sometimes I take it. If I think I have a leg bigger than the other I get paranoid of DVTs.
The outside doctor never told you?

 

[dodgercpkl]

I'm pretty sure she had just gotten the tests back and I've not yet been able to meet up with her to talk about them. She's my endocrinologist and ordered them for me after my 2nd mc when I asked her if there were any tests she could think of to do. She has one more lab order outstanding that I've been waiting on until my RE appointment so I can see if any of it can be covered under my insurance, and I know she'd like to see all of the tests done before we have an appointment so she can have all the information that she'd like to see all together. I know there can be other factors that can have positive or negative affects on this.

lol Does that even make sense?

 

[Storked]

I'm pretty sure she had just gotten the tests back and I've not yet been able to meet up with her to talk about them. She's my endocrinologist and ordered them for me after my 2nd mc when I asked her if there were any tests she could think of to do. She has one more lab order outstanding that I've been waiting on until my RE appointment so I can see if any of it can be covered under my insurance, and I know she'd like to see all of the tests done before we have an appointment so she can have all the information that she'd like to see all together. I know there can be other factors that can have positive or negative affects on this.

lol Does that even make sense?

Absolutely. Not mad at your doc any more

 

[dodgercpkl]

*grin* I'm glad! Hey, does the Factor V Leiden affect anything else in addition to the clotting issues? I was surprised about the MTHFR to find out that even though it's a clotting disorder, it affects the folic acid and other b vitamins as well.

 

[Storked]

*grin* I'm glad! Hey, does the Factor V Leiden affect anything else in addition to the clotting issues? I was surprised about the MTHFR to find out that even though it's a clotting disorder, it affects the folic acid and other b vitamins as well.

As far as I know it just increases the risk of forming abnormal clots. And certain things increase the risk in a normal person so if you already have issues...even more dangerous. Pregnancy, birth control, cancer..all kinds of stuff. MTHFR is more complicated than my FVL. My friends that have MTHFR have other clotting disorders too. One of them had her little miracle 3 years ago

 

[dodgercpkl]

I seem to be lucky (so far) and not have any other clotting disorders, but I do already have PCOS and am borderline for Hashimotos. It's kind of scary finding out all of this stuff that is very potentially life threatening and only finding it out because I'm ttc and trying to find out why I'm having mc's!! It makes me wonder why some of these tests aren't more standard to do...

 

[Storked]

I seem to be lucky (so far) and not have any other clotting disorders, but I do already have PCOS and am borderline for Hashimotos. It's kind of scary finding out all of this stuff that is very potentially life threatening and only finding it out because I'm ttc and trying to find out why I'm having mc's!! It makes me wonder why some of these tests aren't more standard to do...

You have a point. Even a lot of the forms of thrombophilia are scary common and can make you more likely to miscarry

 

[dodgercpkl]

Totally agree with you. You would think that if ( and I don't know what the numbers are for FVL or the other forms of thrombophilia) the numbers for just MTHFR are that 50% of the population is believed to have one form or another (and I think that number is either guesstimated or based on just those tested for it), why aren't they testing more? Why don't they have more research being done? It boggles my mind.

 

[Storked]

Totally agree with you. You would think that if ( and I don't know what the numbers are for FVL or the other forms of thrombophilia) the numbers for just MTHFR are that 50% of the population is believed to have one form or another (and I think that number is either guesstimated or based on just those tested for it), why aren't they testing more? Why don't they have more research being done? It boggles my mind.

Factor V Leiden is the most common hereditary hypercoagulability disorder amongst Eurasians. And yeah, the cord can clot which can cause you to lose the baby or for the baby to be born incredibly underweight. Not to mention the danger to the mother...or any woman on birth control. Dangerous stuff and not nearly enough research or diagnosis

 

[dodgercpkl]

Ugh! It is and it's just so sad to me that so many ladies only find out about it when they are ttc as a reason for mc. But like what happened with your sister, these issues aren't JUST problems when ttc - they are life problems! I've read about MTHFR and bc as well and I'll never go back on bc unless someone can give me a REALLY REALLY REALLY good reason why I absolutely NEED to.

 

[Storked]

Ugh! It is and it's just so sad to me that so many ladies only find out about it when they are ttc as a reason for mc. But like what happened with your sister, these issues aren't JUST problems when ttc - they are life problems! I've read about MTHFR and bc as well and I'll never go back on bc unless someone can give me a REALLY REALLY REALLY good reason why I absolutely NEED to.

Ditto. I have used progesterone only bc but that is because it isn't known to raise clotting risk- but it hasn't been studied either which is why it isn't known. Ya know? maddening.

 

[dodgercpkl]

I think had I known what I know now about bc, I would never have gone on it.... but then I have to wonder if I would even be where I am today if not for the troubles caused by it? Meaning would I have found out about my PCOS, Hashimotos, and MTHFR without that kickstart that caused my cycles to stop for 17 months? It's both an interesting and maddening thought.

Are you being monitored to make sure it doesn't flare up or... I'm not really all that sure how any of these work. lol For instance, I know that MTHFR is a blood clot disorder, but I seem to have optimal levels in my homocysteins which would indicate that (at the time of the test at least) I'm not having clotting issues. However it also affects how my body processes the b vitamins, so I'm kind of assuming that this is something they will be monitoring through out my life now.

 

[Storked]

True, without the birth control it might have taken longer for diagnosis. I was diagnosed young only after my oldest sister almost died and they had her tested- she inherited FVL from my mother who inherited it from her mother.
I don't need monitoring unless I am pregnant. Or if I have almost died, like my sisters, I would be monitored the rest of my life. They take serious blood thinners and visit the hospital every week to make sure it isn't too thin or too thick. But FVL only raises the risk of forming abnormal clots, doesn't interfere with how my body takes in nutrients, like yours
But when I am pregnant I have to give myself daily injections of blood thinners. I hate it but the alternative is so much worse