MTHFR and a Healthy Baby: My Pregnancy Story

After a healthy, although not easy, pregnancy in 2006 that resulted in a perfect, vigorous now almost-four-year-old, getting (and staying) pregnant in 2009 posed a new challenge for our family.  We experienced a tough, sad, trying loss of a baby to miscarriage in September.  Because of the histories of both of our mothers and my age, my doctor opted to go ahead with a miscarriage panel of bloodwork (22 vials of blood) to “check things out”.  We will be ever grateful that he made that choice.

The bloodwork results showed that I am Compound Heterozygous for Methylenetetrahydrofolate Reductase (MTHFR), which is a blood-clotting disorder caused by a gene mutation.  It is a rare disorder, but a major factor in miscarriage and stillbirth.  I immediately began taking a super-dose of folic acid and a baby aspirin a day, and we went back to trying to get pregnant again.  And so the story of this pregnancy begins:

Week 3

Wednesday morning, January 6, 2009: negative pregnancy test.  Again.  Trying not to give up hope this week because it’s still four days early.  Rough week because my dear Grandma is in the hospital and her leukemia is getting worse.  I decide to go home with my three-year-old Lillyan to help out with her care.

Thursday morning: POSITIVE pregnancy test.  Excited to tell my family, who could all use some good news.  Thursday afternoon:  I get an appointment with the best perinatologist in town, who happened to study under one of the leading researchers in the treatment of my disorder.  The ultrasound tech says she’s never done an ultrasound this early, but that everything is looking good.

Friday morning: Lillyan and I fly to Kansas to be with my Grandma.  I’m certainly feeling pregnant at this point, including the vomiting and tiredness.  My Grandma has a great weekend at my parents house visiting with all the grandkids.  Monday morning: Grandma begins to go downhill quickly because of bleeding in her brain, and by Friday afternoon she has gone home to be with Jesus.  Before she died, I told her I was pregnant and that we would name a baby girl after her.  She was beyond happy.

Saturday: I start spotting and stop vomiting several times a day.  The bleeding is light at first, but continues to get worse, just like when we lost our baby four months before.

Week 4

Monday:  After a full day on my feet for the funeral, the bleeding has become quite heavy, and I feel sure this baby is not okay.

Tuesday morning: Lillyan spends the day with my Mother-in-law while my Mom takes me to the emergency room in Wichita.  We spend all day there, getting a bag of IV fluids, waiting forever to be seen by a doctor, and finally having a nerve-wracking ultrasound.  The sonographer does lots of checking and examining, but isn’t allowed to give us any information.  We wait another agonizing hour and a half.  The tech does give us a ray of hope when she says “that was a good way to end my day”.

Tuesday afternoon: The doctor comes in.  He says we have a healthy baby in there who is the right size and is growing, but I do have a Subchorionic Hematoma.  He says to see my doctor as soon as I get home.  Obviously, I get on the computer and find out that means I have a blood clot in my uterus – a known complication of MTHFR.  It/they can be harmless or dangerous.  There’s no way to know.

Week 6

We wait anxiously for the next perinatologist appointment, which comes at 6 weeks and 3 days.  Right away, the sonographer finds our baby’s heartbeat, and we sigh in relief.  The bleeding hasn’t completely stopped, and the doctor says I have several clots in my uterus.  The good news is that they are in the chorionic sac and not sharing the amniotic sac with the baby.  However, we can’t start more aggressive blood thinning treatment to protect the baby from clots yet because it may cause the already-existing clots to rupture.  The doctor gives me orders for “modified bedrest”, which he says means that I can care for my three-year-old and that’s about it.  So we wait. And pray.  A lot.

Week 8

At our next perinatologist appointment, the multiple clots are still there, but not growing.  No changes, baby still okay.  We pray some more.

Week 11

This time, besides having no good news about the blood clots, the sonographer predicts that this is a baby girl in my womb.  We pray hard that we will get to meet her someday.

And we enjoy a little winter family time at our place in Colorado as my bump begins to show.  And no, I’m not supposed to be lifting Lillyan, but there was seven inches of snow on the ground, and she wanted to see the deer in our driveway.

Week 13

Before we have a big party to celebrate my husband’s recent promotion, his Mom joins us for the next ultrasound.  Fantastic news: the sonographer can find no evidence of any blood clots!  The doctor comes in and looks himself.  We are clot-free!  Praise God for erasing those nasty things.  The doctor gives me instruction to start Lovenox.  I head to work on the other side of the country for the weekend, hugely relieved.

Week 14

Monday morning, March 22:  I give myself my first injection of Lovenox, a designer blood thinner that is supposed to protect both the baby and me from more clotting.  Giving myself a shot in the abdomen every morning is not that fun, but Lillyan is my coach and cheerleader for each shot.  I have no choice but to be brave in front of her. It’s a little easier because I start to feel the baby kick and flutter when I lay down at night.  And I’m certainly willing to do whatever it takes to keep our little baby safe.

Week 16

Confirmation: it’s definitely a girl!  Lillyan is beyond excited, and I’m relieved.  I wouldn’t want her to go through life without a sister.  Daddy vows the next dog we get will be a boy.

Week 18

Now, to add to the fun of poking myself and numerous bruises, the doctors identify a hernia of the fascia layer that is causing major pain in the upper left side of stomach.  The perinatologist says there’s nothing to do but “grin and bear it”.  So I do.

Week 20

Our little girl has her first Echocardiogram (an ultrasound of her heart).  A potential complication of my type of thrombophylia (the propensity to develop blood clots) is an abnormality in her heart.  It’s a long, in-depth process, but the perinatologist says, at this point, her heart looks perfect.  Prayers answered again.

And our lives go on.

Week 24

I’m doing my best to keep up with my exercise now that I’m off of “modified bedrest”.  After a morning swimming laps and then a few more hours laying at the pool with Lillyan, I realize I haven’t felt any movement from an otherwise-normally-very-busy baby girl.  I try all the tricks (drink juice, lay still and concentrate, eat food, etc.) but still nothing.  When my husband gets home, I call the doctor’s office, and they tell me to get there immediately.  All the nurses show compassion and concern, and they get me in for an ultrasound right away.  Thankfully, our little girl is just worn out from all the swimming and is in the middle of a big, still nap.  Sigh of relief.  Hugs from all the nurses.

Week 26

My regular obstetrician orders more bloodwork and decides I am anemic, so I start on iron supplements.  Hopefully this will help with the constant exhaustion I am facing.  It doesn’t.  However, the vomiting that has been a daily occurrence starts to dwindle to every few days at this point (which is a major improvement from my first pregnancy, in which I threw up almost every single day until Lillyan was born).

Week 27

It’s a hot summer afternoon in the desert, and I spend too much time and definitely too much energy working outside.  The standard Braxton-Hicks contractions that I experience all the time seem to change into actual, serious contractions.  My husband starts timing them, and they are too regular and too painful to ignore.  My OB says to get to the hospital immediately.  They fill me full of fluids, lower back spasms begin (also a symptom of pre-term labor), and the contractions eventually stop.  In the maternity ward they tell us that dehydration is the leading cause of pre-term labor in this town.

A few days later, our family heads to our Colorado ranch, where I take it much easier than normal while there, and I get a welcome break in caring for Lillyan from all the family that is around.  We also take a break from constant doctor visits while we spend a few weeks in Colorado and Kansas.

Weeks 30, 31, 32

I have three last work weekends around the country, a little too pregnant and miserable for my particular job, but I survive.  I then have a week to relax at home while Lillyan spends time with her grandparents.

Week 33

It’s been eight weeks since my last ultrasound, so we’re thrilled to “see” our little girl again.  She’s measuring about a week behind in her growth, but otherwise everything checks out okay.  I start fetal monitoring once a week, which means I sit in a recliner and drink juice while they track the baby’s heartbeat (particularly the accelerations) on a strip chart.  If she is sleeping, Lillyan starts jabbering away to my belly to wake her up.  It works every time, and our baby girl always passes her monitoring tests with flying colors.  They also check my fluid levels via ultrasound each week.  These are a little less than optimal, but no one seems too worried.  Yet.

Week 36

I make the switch from Lovenox injections once a day to Heparin injections twice a day.  The switch is because the doctors want the blood thinner out of my system for delivery.  Heparin has a lower molecular weight, and therefore, stays in my system for less time.  These shots hurt like the dickens (as we say in Kansas) and leave horrible bruises and scar tissue all over my giant baby belly.

Week 38

Tuesday morning: We have another ultrasound scheduled at the perinatologist’s, and both Daddy and Lillyan are on hand for this one.  The sonographer starts measuring and figuring and comparing charts from the last ultrasound and  checking blood flow to the baby’s lungs and brain … and calls the doctor in.  She is concerned that our baby girl is growth restricted and my fluid levels are too low (both known complications of an MTHFR pregnancy).

That’s where this story ends and the story of our daughter’s birth begins.

Continued in Part Two:  MTHFR and a Healthy Baby: The Birth Story

…