Sunday, August 26, 2012

Answers - MTHFR and PAI-1

Well, we finally have some answers about what likely happened to Jacob.  My recent bloodwork revealed I have two blood clotting disorders.  I am heterozygous for MTHFR and PAI-1 4g/4g.  These are caused by genetic mutations, and heterozygous means I have one copy of each muation which means I inherited one copy from either my mom or dad. I know it's kinda confusing.  Both of these are definitely associated with adverse pregnancy outcomes, such as reoccurent misccariage, stillbirth, placental abruption, pre-eclampsia, etc.

While there were no obvious clots in the umblical cord or my placenta, these conditions can cause microclots that aren't necessarily seen by visual inspection.  This likely explains the small areas of blood loss on my placenta   From what I understand, the MTHFR makes me more prone to clots, and the  PAI means I don't break clots down well once they form.   There is no cure for either one, but they are treatable.  In a subsequent pregnancy, I will take baby asprin and most likely lovenox injections, which is a blood thinner similar to heperin.  I read somewhere that the lovenox does not cross the placenta but allows proper bloodflow to the placenta.  The asprin, apparently,  does cross the placenta and keeps blood clots from forming in the baby.  I will also need extra folate and specific B vitamins to treat the MTHFR.  I will be on this and possibly even baby asprin for the rest of my life.  Here is more info about MTHFR.  It probably does a better job explaining it than I can.


What is MTHFR?

MTHFR - (Methylene-tetra-hydro-folate-reductase) is an enzyme found in the cells of our body. It is needed to metabolize (break down) homocysteine, an amino acid found in the proteins you eat. Elevated homocysteine levels have been associated with fetal neural tube defects (i.e., spinal Bifida) and miscarriage. An elevated homocysteine level can also indicate a increased risk factor for blood clots, arteriosclerosis (hardening of arteries) and strokes in both men and women. The metabolism of homocysteine depends on several enzymes, one of which is MTHFR, along with B vitamins and folic acid. In other words, B vitamins, folic acid and MTHFR are necessary to keep homocysteine levels within normal limits.

Sometimes your MTHFR has a genetic defect. These defects are fairly common and its estimated by some studies that up to 60% of the population have one MTHFR mutation or another.

There are two common genetic MTHFR mutations. If you have one mutation only, you are heterozygous. It is reported that nearly half the population is MTHFR heterozygous. - it is nothing abnormal. If you have two copies of the same mutation, you are homozygous. Homozygotes can have elevated homocysteine levels in maternal blood and amniotic fluid. If you have one copy each of the two different mutations, you are compound heterozygotes. Compound heterozygotes have the same treatment and risk level as homozygotes. If you have neither mutation, you are negative and don't need to worry about MTHFR.

There is NO CURE for MTHFR mutation. If you have the mutation, that's the way your body is made. You can, however, lessen any risk factors you have by taking B vitamins, Folic acid and baby aspirin in doses prescribed by your doctor. By taking these agents, you can lower your homocysteine levels and therefor your risk for the conditions above.

MTHFR mutations are hereditary. Families with significant early cardiovascular disease or recurrent pregnancy loss might benefit from clinical investigation.
I"ve learned the MTHFR is also linked to many other health issues not related to pregnancy.  So, if you're a nerd like me and want to read more about it this website has alot of info.  There are specific guidlines on the proper forms of folate and B Vitamins, people with mtfhr need.  They are not created equal.
As for the PAI, I've had a hard time finding good information on it in layman's terms.  The information below is the easiest to understand that I've come across, and it's still not a leisurely read
First of all, what is PAI-1? The best way to explain PAI-1 is to describe what it does. The blood clotting system is made up of many different factors, some which cause a clot to form and others which cause the clot to breakdown, and these coexist in a very delicate balance. When the blood clotting pathways are activated, fibrinogen, a soluble plasma glycoprotein, is polymerized to form fibrin which is then cross-linked by the action of factor XIII to form the ‘clot’. Under normal circumstances, as soon as a clot forms, it begins to be broken down by other plasma factors. Specifically, a substance called tissue plasminogen activator (tPA) converts an inactive plasma protein, plasminogen, to the active substance, plasmin, which then plays a critical role in the breakdown of fibrin (fibrinolysis), thereby ‘dissolving’ the clot. (Interestingly, and perhaps germane to our discussion at some later point, plasmin also plays important roles in ovulation, cell migration, and epithelial cell differentiation).

PAI-1 fits into this balance as the primary inhibitor of tPA and other ‘plasminogen activators’ in the blood. To put its role in perspective, by inhibiting tPA, PAI-1 prevents the activation of plasminogen, thereby controlling the rate and extent of fibrin degradation (clot break down, or fibrinolysis) that occurs. Overactivity of PAI-1 will therefore lead to a tendency to form (or maintain) clots and an underactivity will result in an increased risk for bleeding. (With regard to other known functions of plasmin mentioned above, overactivity of PAI-1 might then also impair ovulation, cell migration, and epithelial cell differentiation).

Control of PAI-1 production is complex, but it is at least partly determined on a genetic basis. Certain polymorphisms of PAI-1, 4G/4G and 4G/5G, are associated with increased blood concentrations of PAI-1. Elevated PAI-1 levels have been correlated with risk for both arterial and venous thromboembolic conditions (e.g., deep venous thrombosis, pulmonary embolism, and stroke) and atherosclerotic disease (.eg., coronary and carotid artery disease), especially if other genetic (e.g., factor V Leiden; prothrombin G20210A; MTHFR polymorphisms; protein C, protein S, and antithrombin III deficiencies) or inherited (e.g., antiphospholipid antibodies; lupus anticoagulant; anti-beta-1-glycoprotein) thrombophilias are also present. Individuals with insulin resistance syndromes and diabetes mellitus frequently have elevated PAI-1 levels. Obesity and hyperlipidemia are also associated with elevated PAI-1 and under certain circumstances, weight reduction and/or reduction in cholesterol and triglycerides, can lead to reduction in PAI-1 levels.


This website has much more infomation on PAI and how it relates to pregnancy.  Again, this isn't pleasure reading, but it is fairly understandable
I'm sorry this post is so full of information, but I put it up here so my family and friends will better understand and also for any other women who are effected by these issues.
Ok, so how do I feel about all this?  The day I received the news was a bit overwhelming.  I was thankful to have an answer, true facts to work with, but also kinda discouraged.  I mean who wants to find out there is something else wrong with you.  Now, that I've had about a week to think it over and to read more about these disorders I am feeling more hopeful.  I've read about and heard about many women with blood clotting issues that have successful pregnancies.  I try to remind myself that I was able to carry Jacob for 6 months with no added supplementation or medication, so I should be able to carry full-term the next time around.  I sooooo wish I knew about all this a year ago because I know my sweet boy would still be alive if I had known....if only....if only....if only.
It probably seems like I've done alot of research, but I haven't really.  I am careful about how much I focus on it.  That's another reason it's taken over a week to share this.  I must be wise and prepare my body the best I can for another pregnancy, but somedays being pregnant again is the farthest thing from my mind.  How do you grieve one baby and prepare for another?  It's tough, and it's not how it's supposed to be.



Tuesday, August 14, 2012


A year ago on August 15th my Grams passed away. My goodness if I would've only known a year from that day where I would be now.  I read in my devotional recently that God doesn't give us a snap shot of our life because we couldn't handle seeing it all at once.  He only give us enough light to see the next step ahead.  I can relate for sure.  This post isn't really about that though, it's about Grams.  She is simply one of the, if not the, loveliest woman I've ever known.  We were more than grandmother and grandaughter.  We were friends.  She took care of me and when the dementia swallowed her, I took care of her.  As much as I hated for her to go, I'm thankful God took her when He did.  I know without a doubt she was one of the first faces Jacob saw when he entered heaven.  Comfort doesn't come easily these days, but knowing they're together does give me some.  When I think of them, this is what I see:

Grams & Me October 1981

So Grams, since I can't hold and love on my sweet boy, do it for me, okay? I can't wait to see you both again...absolutely can't wait.  What fun we'll have.  I love love love you two!

Friday, August 3, 2012


I am excited about something, yeah you read that right.  A few weeks ago I felt like I was being nudged to do something to help other mommas in my place.  I came across a verse in my quite time, and  I suppose that's what started it.

I chose you and appointed you to go and bear fruit - fruit that will last.  Then the Father will give you whatever you ask in my name.  This is my command: Love each other"   John 15:16-17

When I read that, I thought....really Lord?!  Honestly, who on earth could I help in my shape? It's only been a month, and I'm still pretty much a basket case.

Hindsight is 20/20 and looking back at my time in the hospital, there are things I wish I would've known to do differently.  It all happened so quickly, and we were all in shock.  We left the hospital virtually empty handed, other than our pictures and our memories.  I cherish those, but I wish I would've had more.  The nurses wrapped Jacob in a special blanket when they brought him to me.  I would give anything to have that blanket.  My mom even tried.  She went back the next day and asked the nurses if she could get it.  They said no because that's THE blanket that's used when babies die.  I get that, but that don't cut it for a momma who just lost her whole world.  I want that blanket.

Since then, I've learned about different organizations and individuals that donate blankets, hats, gowns, etc. to hospitals just for tragic situations like ours.  Well, clearly our hospital wasn't in the loop because I didn't get anything like that.  Let me sidetrack here a sec.  Even though we didn't get those things, we did get amazing nurses....angles in scrubs.  I can't say enough about the treatment and love we received from the labor and delivery nurses at UT medical center.  They've got the "great people" covered at that hopital.  Now, they just need blankets. I may not be able to offer another grieving mother much advice or comfort.  I'm still trying to navigate this grief thing myself.  I can't do much, but I  can do blankets.

I contacted the hospital and within a day, a wonderful woman called me back.  She said there is a huge need for blankets.  Other parents have donated in their baby's honor, but it hasn't been on a consitent basis.   She confirmed what I now know.  Stillbirth and early infant loss happen more often than people realize.  She ended up sharing with me that she too had experienced a stillbirth.  It truly was a blessing to speak with her.  The bigger blessing in all this is that I not only get to help other women, but I'll be honoring my sweet boy while I do it. 

At first, I thought I would just buy some blankets just to get them where they need to be in a hurry, but that's not good enough.  The babies and mommas receiving these deserve something more special than what Target offers.  They deserve a blanket handmade with love.  My mom owns a monogram shop and has a super seamstress, Brenda, that works with her.  Brenda has offered to make the blankets at no charge.  My mom will also monogram the speical baby's name on the blanket for free  if the parents choose too .  I'm not sure if God intends for this to be a one time thing.  I kinda doubt it, but we'll see where He leads.  He no doubt has opened the door for this, and I gladly step through.  I know it will bless all who are involved.