Our MTHFR Story

So this is the story of the last two years.  I tried to cut it down to size but with no success.  Sorry.

Our story begins in 2014 with our fifth pregnancy.  My husband was about to leave for a deployment.  We were thrilled to be expecting again and looked forward to Mike’s return just in time for the birth.  Perfect timing.  Off Mike went to Guam and I settled down to what I expected to be another uncomfortable but uneventful pregnancy.  I don’t really enjoy being pregnant. Actually I really don’t.  But it’s always been “easy”, just wearing.  And the first half was just that.  In late October the doctor noticed choroid plexus cysts on the baby’s brain.  While that sounded scary he assured me that it was quite common and not serious in itself.  Apparently these cysts occur in about 2 percent of pregnancies and generally resolve on their own before birth leaving no ill effects.  However, they are a soft marker for Trisomy 18.  While they occur in 2 percent of normal pregnancies their occurrence in Trisomy 18 pregnancies is much higher, about 30 percent. This finding triggered a more in depth ultrasound at a perinatologists but my obstetrician’s lack of concern reassured me that it would most likely be nothing. Two weeks later I went for the level 3 ultrasound and my whole life changed.

Along with the choroid plexus cysts the baby was wildly too small for gestational age.  More troublingly, the doctor showed me a blank space at the end of every heart beat on the Doppler where no blood was flowing through.  He tried to be both reassuring and honest.  I came away with the understanding that things didn’t look too good.  Very likely our child had a chromosomal abnormality.  Regardless he was severely growth restricted and might die.  We needed to know as much as we could about what was going on so we could make decisions about delivering him at the very limit of prematurity to give him a chance at life.  Come back in two weeks and we’ll talk more.  We need to get to 24 weeks for a shot.

This was devastating news and overwhelming to process on my own.  I don’t know if I fully grasped the situation because I was dealing with shock. But there wasn’t anyone there to ask follow up questions.  I talked to Mike over internet phone late that night and tried to convey everything fairly but I’m not sure I did.  Neither of us felt there was a rush to decide about getting Mike home.  Right now we just didn’t know enough and surely we should wait for a little more information before making rash decisions.  So we waited.  Ten days later blood test results ruled out Trisomy 18.  Fantastic.  That diagnosis would have been almost certainly a death sentence.  With it off the table we started talking about the what ifs of a very early birth.

On the day of our 8th anniversary I went back to the perinatologist.  This time I brought my aunt in law.  The plan was that she would help me ask the right questions and fully grasp the answers in case there was another serving of shock to come.  Before we left the house a bouquet of flowers arrived from Mike with a note, I wish I was there with you.  Armed with a note pad of questions and ready to make a plan I went in.

I’ve always joked I can’t make anything of ultrasounds.  It’s all blurry to me.  But there’s pretty much no mistaking the total stillness, the slack unanimated baby.  There’s one kind of ultrasound it is very hard not to understand. The nurse technician cannot tell you.  But you know.  You know because of their business like demeanor.  They aren’t chatty nor grim.  They just hit a couple of keys, move the wand a little and tell you they will be right back.  You know.  I don’t think I could put into words what it feels like when the doctor tells you though.  I don’t think I want to try.

I’ve written elsewhere about the experience of delivering Charlie.  It was incredibly painful and fascinatingly beautiful at the same time.  While I can talk about the lead up to and the aftermath of it I can’t say much about the birth itself.  Things about it are very sacred to me.

Mike could not get home in time for the delivery and so we decided to hang tight and finish out his time deployed.  Luckily he was scheduled to come home early for training so it was three weeks to wait and we decided to have the burial once he returned.  It was so good to have him home.  But there really was no way to fix the heartache of his having missed the birth.  This is a terrible burden on a husband, not to have been there for his wife.  What a terrible loss to never hold your son and say goodbye.  It’s something we can’t ever share but had to experience differently and separately.  It is probably one of the hardest parts of the last two years.

I found recovery more challenging than from a full term delivery.  My body hadn’t wanted to recognize it wasn’t pregnant anymore so the delivery was difficult.  The hormone changes were atrocious.  There were complications from surgery.  And all of that with no baby to hold and make all the pain worthwhile.

Once the dust settled we consulted with our doctors about the ramifications for the future.  As far as they could tell it was just one of those struck by lightning terrible things that happens.  There were no obvious reasons for the loss and we had four healthy children at home that indicated no repetitive problem.  I looked and looked for things to test.  I had full blood work drawn which revealed that I was healthy as a horse.  The only oddity: I had too much folic acid and B vitamins, probably from taking prenatals so long.  Just stop taking those.  I asked if it was worth testing for a genetic mutation called MTHFR.  I had heard it could cause problems like those with Charlie. Both my perinatologist and obstetrician said that this was not recommended and unlikely to be an issue for a couple like us with four uncomplicated births.

So when I became pregnant again nobody involved was anything but confident.  Except me.  I was terrified.  We checked on the baby at 13 weeks to find a healthy, perfectly formed, 80th percentile sized baby with no blood flow problems similar to his brother’s.  Clearly this child was fine.  I tried to argue myself out of my worries but with little success.  A few weeks later I became convinced something was wrong.  I had a definite sense that I was shrinking instead of growing.  On the outside it didn’t show to anybody.  I sounded crazy.  Mike left for a month of work in the Indian Ocean.  Surely if something was wrong we’d have the few weeks warning we had with Charlie and he’d be back in time for anything.  And anyway nothing was going to happen.  So there I was at my next ultrasound with Aunt Sylina again when I recognized immediately that still form on the ultrasound.  I waited the extra five minutes for a doctor to come in and confirm what I saw for myself, Samuel was dead.

Again we went through the difficult experience of delivering and burying a child.  This loss was in some ways easier because I had already learned to expect disaster.  I also knew that as painful as this would be, I could survive the experience.  I’d lived through the whole thing once before.  And at least this time Mike could be there for the delivery, to comfort me and hold his son.  I think there was some healing in that after the pain of not having him the previous time.  On the other hand there was a new and difficult pain to be faced.  With two late term losses it seemed clear, something was permanently wrong.  And nobody could figure out what it was.  Test after test came back normal.  With each one I grieved again, for a whole imagined future that looked impossible now.  It seemed very likely we would never again hold a living child.  This loss was not just the loss of Samuel but seemed to be the loss of so many possibilities.

Finally the doctors decided to run a test for MTHFR because they didn’t have any other tests left to run.  This is a genetic mutation that is incredibly common.  The college of obstetricians no longer recognizes it as a significant risk factor in pregnancy.  Apparently there are a wide range of mutations on this gene and many of them have little impact.  However, we were all out of ideas so they decided to try.  Indeed I had the mutation.  But this didn’t necessarily mean anything.  They followed up this test with one testing levels of homocysteine in my blood.  This is an amino acid that occurs in all of us but if your levels are high it can cause “sticky blood”.  Your body cannot properly process homocysteine without folic acid and B vitamins, the very things my body wasn’t absorbing because of the MTHFR mutation.  My homocysteine levels were through the roof.  The doctors believed that by taking a different form of folate and B vitamins my body could process I would probably be fine.  The babies had most likely died because blood, which naturally thickens somewhat in the placenta, was thickening too much and not reaching the baby.  As for how we had 4 healthy babies first, well the guess was that as I aged my body could less and less compensate for what it wasn’t getting.  At 23 it did a pretty great job.  At 30 not so much.  This also explained why each baby we had was markedly smaller than the previous one, which is the opposite of usual patterns.  Next time around we would try daily injections of blood thinners.  It was all a theory, but it was a theory with evidence and a plan of action.  We decided that it would not be unreasonable to try again.

Unexpectedly, that again happened much sooner than anticipated.  Still despite the surprise we were thrilled.  We have been ready for another baby for a long time now.  So I rushed in to the obstetrician’s to get a confirmation ultrasound so we could begin the blood thinners.  The 5 week ultrasound confirmed the pregnancy was not ectopic so we could safely start injections, but it brought it’s own extra surprise.  There were two gestational sacs.  Even that early on the doctor was pretty confident that only one baby was growing, but we would have to come back in three weeks to be sure.  So for a moment we were parents to twins.  This did a number on my brain I’ll tell you what.  Especially when at 8 weeks the one baby had disappeared.  This is called “vanishing twin syndrome.” One twin survives and one is absorbed back into the body.  And it’s hard to figure out what to feel.  Do you grieve that a child is gone?  Or rejoice that you’re pregnant with a healthy one? Or both? Both.  As with everything in these crazy years the answer is both I guess.

I have never been able to finish an entire course of antibiotics without missing a dose.  I’m terrible at taking medicine.  Not this time.  Every day two specialized vitamins, one baby aspirin, and one shot of lovenox.  The blood thinner bruised up my belly til it was a black and blue patchwork.  It burned.  Some days I whimpered like a baby before even sticking the needle in I was so sick of them.  But I never missed a dose.

The first trimester went by smoothly, but then again they always have.  It’s the second one that’s a doozy for us.  I was pretty stressed out for the first 12 weeks but a total basket case through the middle.  Most nights involved a mild panic attack of tight chest, difficulty breathing and racing heart.  Nightmares started full of dead and deformed children.  I thought once I felt the baby move I’d be better.  It was actually worse.  I would feel those early kicks and then nothing for a day or two.  Totally normal.  But I was convinced the baby was dead for at least part of every day.  I woke up sure of it every morning.  With every appointment the doctors and Mike would say “everything looks great” and I would add “so far”.  They had all assured me it would be fine last time and it wasn’t.  I wasn’t going to let down my guard again.  It actually felt like if I did then the Bad Thing would certainly happen.

But it didn’t.  Baby kept on growing.  We decided to find out the sex of the baby although we never had before.  I thought it might be emotional after the two boys to have a girl instead.  And I was right.  It was hard somehow.  It made them feel all the more lost.  All the more a dream that never came true.  That is silly, because had the baby been a boy it still wouldn’t have been those boys.  They’re gone no matter what.  And I loved my little girl right away, but it brought home that life was never going to look the way it was meant to.

Still baby girl grew.  And grew and grew.  Our other girls were tiny little things.  It is now clear that was because of the MTHFR starving them, but we hadn’t known that.  Dulcie was 5 lb 15 oz at 39 and a half weeks.  Gina not much bigger.  This baby was going to be in the 90th percentile!  I started to believe we’d make it.  That beautiful smooth Doppler, no blank spaces, was starting to convince me.

At 28 weeks I began twice weekly appointments.  Mondays were ultrasounds and Thursdays were non stress tests.  Twice a week, every week, everything normal.  And so it continued to the end.  On July 18th Miss Miriam Esther was born.  At 38 weeks and four days she was a healthy 7 lbs 4 oz and beautiful in every way.  The same doctor who had delivered both boys and the same nurse who had sat with me through those labors were there to usher her into the world.  There was a lot of crying and hugging and choked up silence.  Another impossible to convey set of feelings but the closest I can come is just this: She was so warm.

Well that was long.  But here’s the first of my long list of “living in tension” lessons.  Our healthy Miriam means, essentially, that Samuel could have been here if we had only known a little sooner what to do.  If a doctor had run the test that I asked for early in that pregnancy.  If the high folic acid reading had red flagged someone to guess that the levels were high from lack of absorption not from taking too much.  It would be easy, I think, to be angry at someone about it.  I know it’s easy to blame myself.  I should have been more forceful in my requests.  But I know those doctors.  They’ve gone through so much with me.  I know they wanted those babies to make it and they did the best they could.  I know the doctor who told me, told me with confidence, that “we’re going to get you a healthy baby this time” believed that.  I know the look on his face when he had to tell me for the second time that that wasn’t the case.  No doctor can know everything as much as we expect them to.  We tend as a society to distrust them and think we know better with our Google degrees.  Then when the going gets tough and they don’t have every answer we’re mad too.  So I won’t do it.  I will be grateful they got me an answer eventually instead of angry they didn’t get it as soon as they could have.  They’re human and what a horrible job to spend your day watching mothers lose children.  To know if you miss something that’s the price.  I’m glad someone is willing to do it.  And I’ll forgive myself too because I did the best I could with what I knew as well.  So we messed up.  We messed up really badly.  But there it is.  Being angry or guilty won’t do anything to fix it.

What I do want to do is tell anybody who has lost babies without a good explanation to get tested for MTHFR.  You’ll hear it probably isn’t important.  And you know what, it probably isn’t for a lot of people.  But the solution if it IS the solution is so simple!  It’s possible that the change in vitamins and a baby aspirin alone would have been enough to keep Miriam healthy.  We did the blood thinners too and will in any future pregnancies because so much of this is just a theory still.  I’ve now spoken to a half dozen or so women who have done the same and we’ve all gone from losing babies to holding living babies once again.  Holding babies after uncomplicated pregnancies even.  Terribly anxious but perfectly healthy. Heck, if you’ve had problems ask for the different folate whether you get tested or not.  It works for anyone and is easier to absorb so why not?  In the end we still can’t be certain what helped Miriam but something about this combination worked and it has worked for numerous women.  Women I only heard about once I’d learned it for myself.  Pregnancy is still a very mysterious thing.  Our high risk doctor told us that the list of possible things that go wrong has tripled in the time since he became a doctor and by the time he retires he expects it to be even longer.  They’re learning all the time.  I told them when we were testing and not finding anything, let’s find Marchand’s Syndrome.  Let’s solve this so someone down the line will recognize it quickly and easily.  Well it’s not Marchand’s Syndrome, it’s MTHFR, and if our loss can at least save someone else from one that would be a comfort.

So that’s our story in the essentials.  I’m going to talk a bit about a few other “tensions” I’m working through in other posts: How a joyful birth is bringing back grief, How God could have saved our children and didn’t, How much trouble I have answering that seemingly easy small talk question “what number is this?”…

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I’ve been writing a decent amount this year, just not here.  The blog has been quiet for a long time.  It’s been quiet so long I’m not sure where to begin waking it up again but let’s try.

Our bishop gave a sermon earlier this year on the Holy Trinity.  One theme he explored was the need for Christians to “live in the tension” of their faith.  One God, Three Persons.  God who became man. Christ dying to open eternal life.   Justice and Mercy.  He pointed out that when we try to throw out one half of any mystery we’re in trouble.  And living in the mystery means accepting the conflict, accepting that it IS a mystery.  Now those are huge questions.  Much bigger than my own small ones, but this idea of living in the tension has helped me a lot this year.  It’s been a year of looking for answers to questions that don’t really have any.  So I’ve tried to go for acceptance, not so much of what has happened as of all the things about what has happened that I can’t make sense of.  This doesn’t make anything easier exactly but it makes me ok with how hard it has been.  When I’ve run up against a wall I’ve practiced just recognizing the wall is there and that nothing I can do will change that.  I’ve practiced just observing my experiences instead of trying to decide what they mean.  And the funny thing is that in the exercise I think I’ve probably found the most meaning that I could have found from them.  The lesson I’ve come up with is that there is a meaning to it all, that I don’t necessarily know it and not knowing it doesn’t negate the meaning.  It’s there and it’s working on my soul whether I can define it or not. All this to say, I decided to ride out the last nine months before I wrote anything about them.  But I am happy to announce that after the losses of our two precious sons Charles Donald and Samuel Isaac we are now celebrating the birth of our daughter Miriam Esther Marchand.

I do feel I need to write something.  I feel obligated to share the information that saved my baby’s life in case someone else is ever searching for answers the way I was last year.  And I also have things I need to say on behalf of the kids we do not get to hold.  Their story is still part of our story, their lives have touched us profoundly and I think will continue to shape this family in beautiful and lasting ways and I need to honour that.  So the working out of all these things may take a little while and a couple of posts.  The first is my “just the facts ma’am” story.  But the facts are pretty long because it’s been a long journey.  So fair warning, I’m going to sort through it all here on the blog and it’s going to be messy, especially the next post.  The what happened.

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