[tbavrbab]

We got the genetic testing back a little earlier than expected.

Apparently I'm positive for the MTHFR mutation, and I've got "several mutations of the gene" whatever the heck THAT means....most likely it means that I'm compounded heterozygous which is still bad.

The peri is bringing me back in for a fasting homocysteine level test on Tuesday morning...and after that comes back we should know what exactly we will need to do this pregnancy.

Likely, we're looking at taking increased levels of folic acid and B vitamins, and possibly a blood thinner.

This could explain all the miscarriages...possibly even the loss of my daughter's twin...it could possibly explain the pre-e and HELLP...it could explain why even when I followed all the high protein, good health "rules" I STILL got sick...

It could mean that I'll be able to actually experience the last month of pregnancy for the first time ever this pregnancy...it could actually mean I might not get sick this time!

But it also means my baby is at a substantially higher risk for neural tube defects, chromosomal abnormalities including down's syndrome, developmental issues, still birth, etc. I'm seriously nervous about my Level II ultrasound on May 5...

I'm kind of in a little bit of shock right now...I mean...who actually thinks they have a genetic mutation...let alone SEVERAL of them?! And what does all this mean for me and for my baby...

I'm sorry all, this probably isn't the place for this, but I wanted to tell my ddc buddies.

 

[ilovejeff]

 

[mamamia10]

first of all hugs
and second of all we are all here for support
I have no advice except to just absorb the info
good luck and keep us posted

 

[mkksmom]

I have it too... both sets don't know which specifically... hetero maybe, but my homocystien levels are low, so they only have me on extra folic acid. I take the prenatal vitamin called Neevo with an accent on the the first e. It has L-methylfolate (sp?) which does not need to be processed by your body, so it takes whatever we lack out of the equation. There was a time when I actually could give you specifics, but I forget most of it because I was so worried about it when we were TTC in addition to other unrelated fertility issues that I had to just follow the doc and let go of the worry.

My doc just focuses on the homocystien levels. No aspirin, lovenox or heparin for me. In addition to the Neevo, I take 1 mg of extra folic acid. Some docs have you take 4 mg, but mine does not. According to the mutations that i have, my levels should be affected, but luckily they are not. Some docs will treat you with blood thinners either way, and others feel it is not worth the risk.

But the good news is that this is something that is treatable and I hope will make this pregnancy much easier on you.

With my MTHFR mutation and ovulations issues, I have no idea how I carried my almost 5 year old daughter 40 weeks and 6 days without ever having an issue other than a ton of contractions from 20 weeks on. I stayed right on the borderline of needing to call the doc, but never did. Other than that, she is completely healthy. Will have to make sure she is tested for the mutation, though.

 

[ChaoticMum]

I'm glad you can come here to vent and rattle off your thoughts!! I may not be able to help, but I sure can listen!!!!!!!!!!!!

 

[2boyzmama]

There was a thread recently in PBL about MTHFR, I didn't read any of it, but I did notice it. You might want to poke around over there and see if you learn anything.

This is absolutely the place to post this!!! We're here for you!

It sounds like there is a manageable treatment plan, so that's good!

 

[frontierpsych]

DH has MTHFR along with MS. He takes vitamins for it.

 

[Guinevere]

s, mama. I feel that this kind of information, even if it isn't necessarily reassuring, is better than not knowing at all. And the really good thing about this mutation is that there IS a treatment for it, one that can make a big difference in outcome for you and your babe. That IS good news, without question.

I had severe PE with baby #1 (born at 33w) and eclampsia with baby #2 (born at 31w), so I've done a lot of research about the links between blood disorders (which, technically, I believe, MthFR isn't, yet it is often in the same testing panel and causes many of the same complications) and pre-e/HELLP. There is a *very* strong correlation between the two, as well as with stillbirth and repeat m/c's, so I absolutely believe that your previous pg issues and your new diagnosis ARE related. I'm a little surprised, in fact, that this testing wasn't done after the birth of your preemie. It was my bout w/eclampsia with baby #2 that led me to have the full blood workup done postpartum, to try and find some reason for why I had been so sick. I turned up heterozygous for FVL, which has been very helpful info. to know.

I now take baby aspirin both prenatally and throughout pg, and *fingers crossed*, I haven't had pre-e return since. I hope you can find a good treatment plan for you, as well, and that you have a long, full-term, and healthy pg!

Guin

 

[kismetbaby]

Sorry to hear about this. . .but perhaps it is good to have a cause for your m/c and pre-e problems. At least you don't have to wonder anymore and maybe you can find relief in some treatment (vitamins? I don't know much about this) and not get so sick this time and not deliver so early.

 

[mom2tig99Nroo03]

 

[octobermoon]

of course this is the place for this! you are a part of this DDC just like the rest of us! i'm so sorry you have to go through this, i am sure i speak for us all when i say we are here to support you through whatever.

 

[KayleeZoo]

Thinking about you and sending positive thoughts

 

[mkksmom]

I wanted to add that I completely agree that this is definitely the place to post this because you are sharing an important part of your pregnancy experience with us. When I first found out about the mutation, I went through a whole range of emotions... glad to finally have some answers, but do I trust the doctor that I don't need blood thinners. Why don't docs test for this if it can cause other blood clotting issues? I found a message board for it and thought I could learn more, but had to stay off of it because of the stress and worry. I still worry, but I just pray and hope for the best at this point. But this is definitely a great place to share this info. Whether people know about the mutation or not, we can all understand being protective and concerned about the health of our babies.

 

[dancemama23]

Hugs to you, mama. We are all here if you need us.

 

[tbavrbab]

Thanks everybody! And expecially thanks to mkksmom and guinevere for sharing! It really helps me to feel better about this stuff.

I'm on a baby aspirin already because there was some chance it *might* help even when we didn't know what might be causing it. I'm also on modified bed rest. Hopefully THAT part will change though!

As for why we didn't get tested sooner, I have no idea. It must have never occurred to my OB. It was my peri that did the testing after reviewing my chart. I actually asked to be referred to the peri this time...mostly preemptive just in case. My OB thought it would be a good idea too. If I hadn't asked, my OB would have waited to refer me until we were starting to show signs of trouble.

It was certainly a shock to me...but I think we're going to make it through this. Once we know the homocysteine levels we'll be able to make a better decision. We know that something is causing issues with pre-e for me, HELLP is just super nasty pre-e, so my goal here is to make that risk less. My goal used to be to make it past my daughter's birthday before we deliver...my ultimate goal now is a full term pregnancy and me not desperately ill by the end.

 

[StrongFeather]

We are here for you if you need us. Plus the more you vent, the more answers or options you might gather, there is a wealth of knowledge out there. I believe that sometimes you just meet the "right" people at the right time. So I never keep quiet when I have a problem. Many of them have been solved or at least made MUCH better by speaking about them.

Plus you are Knowledge is a good thing to have!

to you!

 

[Guinevere]

Quote:

Originally Posted by tbavrbab My goal used to be to make it past my daughter's birthday before we deliver...my ultimate goal now is a full term pregnancy and me not desperately ill by the end.

I understand completely. I know that some of my gf's who've never had pg complications look at me funny when I tell people my EDD (Sept. 28), then immediately qualify it with, "But I'm just hoping for a September baby at all." However, once you've had a preemie and gotten so horribly ill, you really learn to temper your expectations, sad as that may be.

So I will be rooting for at least 38wks along and NO signs of pre-e/HELLP for you and a lovely, pre-e-free HB anytime after 37w for me. Sound like a plan?

Guin