MTHFR

Don't worry, the title of this post is not an online abbreviation for a nasty cuss word, although that's pretty much how I feel about it.  MTHFR is a diagnosis I received yesterday that I didn't know I had.  It stands for:

Methylenetetrahydrofolate reductase

I don't know much about it either...so I don't know how educational this post will really be, mostly just spliced together internet research.  I have an apt with my hemotologist on Wednesday so hopefully I will understand it better after that.

Background Info-

So I've known I have a blood clotting "factor" since I was 14.  I got tested that young because it runs in my family.  It means your blood has the potential to clot easier than it should, because one of the clotting factors (that help your blood clot) outweigh the anti-coagulants.  In a nutshell.  I was never extremely concerned about how this disorder would effect my pregnancies.  After all, my mom has it and she had 4 kids.  (My hemotologist later told me that a second blood problem my mom has, which I do not, cancelled out the effects of Leiden Factor V on her pregnancies.  Talk about blessings in disguise).  I knew that this increased my risk of early miscarriage, losing a baby to a blood clot in the placenta or umbilical cord, or getting a blood clot myself.  Especially because pregnancy increases your risk of clotting also, because of the extra Estrogen.

When I was first pregnant with Jack I went to my hemotologist to make sure everything was squared away and safe- by that point I was already ten weeks along.  He told me the fact that I'd carried that far meant that the baby should be totally fine- which he was.  I had started taking a low dose asprin 5 weeks and 5 days along with Jack- to help keep my blood a little thinner.  Seemed to work like a charm, Jack was born at 9 lbs 4 oz the day before my due date, but measured around 42 weeks.  Nice and healthy.  We weren't worried about my blood affecting future pregnancies, Leiden seemed pretty controllable.  But we thought that was all I had.

I started getting tested for additional problems after our third loss in a row.  The troubling thing is, the last time they treated me with the same meds that I would have been treated with had we known about the MTHFR, and they still didn't work.  I'm hoping the hemotologist can shed additional light on that.

1st pregnancy- Took one baby asprin a day starting about 6 weeks, resulted in a big healthy baby, virtually no complications with Jack.

2nd pregnancy- Assumed the same thing would work.  Started baby asprin at 5 weeks according to my doctor's instructions- lost the baby at 6 weeks.

3rd pregnancy- Assuming the first miscarriage was a chromosome related "fluke," everyone assumed this pregnancy would be fine.  Started on asprin at 4 weeks, just to be safe.  Lost the baby at 5 weeks.

4th pregnancy- The doctors concluded that micro blood clots were forming in the placenta and thus the baby could not be nourished after the yolk sack turns the job over to the placenta- and decided I needed to prevent clotting earlier on.  I started on the asprin around the time I ovulated and started on 70mg of Lovenox injections daily at 4 weeks.  Lost the baby at 5 weeks.

Puzzling right?  It seems like the more thinners I pump in, and the earlier I start, the sooner I lose the baby.  It feels like the thinners aren't giving the babies a chance to attach properly.  My gut feeling tells me more that we will just have to have a good "take" in the beginning, meaning we can get a viable heartbeat at 6 weeks before we start preventative thinners, like we did with Jack.  I don't know how many we would lose before that happens again, but it happened once.  Because of this, my fear was that I would have an additional problem that caused me to clot MORE, because then I worry no one would ever listen to that feeling I had.  They would continue to recommend more and more thinners, and how is such a fragile start ever to survive that.  (Maybe that is right and what I need, but I feel lots of anxiety about that- if you believe in listening to your gut, my gut is telling me no.  However, I waited to start thinners with the 2nd pregnancy and still lost that baby..so who knows.)

The News-

The nurse calls me yesterday and tells me I am positive for MTHFR.  I burst into tears as soon as I get off the phone.  It's genetic, so I've had it my whole life without knowing it.  But I've read enough about it on online support groups for Lovenox that I knew it wasn't a good thing to have.  Women with that online seemed to have 6 or 8 miscarriages in a row.  Maybe this was the real cause after all, and not Leiden.  The good news was my Protein C and Protein S were normal.

The nurse told me lots of people have one mutation, but lucky me I have two, one from each parent.  A double whammy- makes it harder to manage with a pregnancy.  But even that is manageable and usually can be worked out, unless you have an additional clotting factor like Leiden.  Lucky me, 3 for 3.  Needless to say I feel like the odds are against me.  Despite needing to learn about my own health so I can keep the right lifestyle and have the right diet so I don't have a heart attack at 50, I felt my hope for having another healthy baby slump.  Maybe it's possible.  But what am I going to have to go through?  How many times will it take?  And how in the world did I have a healthy baby on my first try?!

Below are some of the risks according to the inter-web.  I know some of them have to do with an excess of homocysteine building up.  I don't understand all the science- but the MTHFR gene produces an enzyme that is important in the process in converting homocysteine to methionine- which makes proteins and other compounds.  I know it's critical to take like a super huge mega vitamin B- because that bi-product can help keep the homocysteine at bay.  Another blessing I didn't know about- I've worked at a health food and supplement store for going on 4 years and have background knowledge and access to the best vitamins around.  Who knew how important that would be for me.  Anyway, risks (in general)

Increased risk for Me:

-Blood Clots

-Hardened Arteries

-Stroke/Heart Attack

(obviously, these risks are heightened whenever you have any blood clotting factors- but can be controlled with a healthy lifestyle).

-Infertility (this one doesn't seem to be a problem for me)

Risks for Pregnancy:

-Recurrent Miscarriage (especially in combination with another blood clotting factor)

-Placenta detaching (which potentially can lead to a stillborn baby)

-Small, low weight babies (what?! Jack was 9lb 4oz!)

-Neural tube defects (like spina bifida etc) this has to do with the body not absorbing folic acid as well, which is crucial to a healthy pregnancy.

-Down syndrome

-Autism

-Intense Postpartum (so maybe I really have been going through some of this)

Wow, that is a lot to take in.  Just when I get my head around something, something else drops on me.  How is this going to effect my health?  How many losses are we going to have?  If we make it past that 6 week bump are we going to be concerned for all these other risks the whole time? (of course).  Could we have a stillborn child?  How would we handle a handicapped child?  Are we willing to take all these risks?  Could we have another miracle and have a totally healthy child like Jack?  If it got to the point where we needed to consider adoption, how would we do with that?

My whole life plan and outlook just changed, again, with a phone call.

I only know that I'm not ready to give up yet- it happened once it can happen again.  It's more than terrifying.  As if a normal pregnancy isn't scary enough.  But it's just not in me to give up hope yet.  It's just adjusting to this new reality, again.

I'm also upset with my thyroid- adding hypothyroidism on top of this doesn't help anything.  I seriously sound like a hypochondriac.  I told Kevin I was so sorry- I really wasn't sickly when he married me.  I really planned to be healthy with no problems my whole life.  I guess we learn to deal with it as we go.

Blessings-

Like I said, the body doesn't absorb synthetic folic acid very well with this condition, so it's important to get B vitamins and other vitamins from raw and healthy foods.  Well, I didn't know I had this condition, so I wouldn't have known that was important.  If I didn't have my job, I probably would have picked up any pre natal vitamin at Wal Mart, made in a lab somewhere.  Which is better than nothing- and probably ok for most people.  But because I have the job that I do, I knew that whole food vitamins typically absorb better, so I got a higher end whole food pre natal from work when I was pregnant with Jack.  He has no handicaps or deformities.  I can't say for sure that it was because of the vitamins- but it is obvious that he got enough folic acid that he didn't have any neural tube defects.  I am so thankful that I increased his chances by taking a vitamin from a source my body can use- without even knowing it.  God is in the details.