a miracle - Week 13

Today was the day.
I was in the middle of getting dressed when my genetic counselor called.
"I have good news for you," she said.

Our baby is a carrier for my husband's mutation on ALG12. A healthy carrier BOY.
I'm still stunned. This could happen. This could really happen.

After some chatter, I asked her if the test found anything else? Anything bad?
Turns out...no bad news! Just a healthy baby boy.

I expressed my concern about cystic hygroma and diaphragmatic hernia. Drew had both and John had neither. Both abnormalities are part of many syndromes, but they also can stand alone.

But my genetic counselor said she thinks we would have already seen evidence of a cystic hygroma and so far this pregnancy seems to be perfectly normal, perfectly unaffected.

I called my husband and cried. We are going to have a take home son!

I truly thought this baby was a girl. What are the odds of having three boys in a row?
So I spent some time looking at boy baby clothes at the store today and I even bought a little striped sleeper. I browsed the boy scrapbook papers.

Tonight we looked at boy nursery themes. We named our little one, our little boy.

It looks like we really are expecting Clark Alan on Dec. 29.

It is a miracle.

To Doppler or Not to Doppler - Week 13

I have been astonishingly — ASTONISHINGLY — positive about this pregnancy. Maybe its the good NT scan, maybe its something else...I don’t know! All I know is that while I worry and worry and worry, there is some part of me somewhere down deep inside that feels like this baby is OK.
So with that comes peace.
Until last night. I don’t know what happened. My husband and I were talking about the baby a little bit and I felt fine. We decided to take our daughter to see the new Superman movie (bad idea. Not a film for kids. Not a good film for adults, either.) While we were sitting in the dark theater, somewhere in the middle of Superman’s umpteenth battle, it hit me.
Something might be wrong.
I think something is wrong.
Something is wrong.

I started to think back...when was the last time I felt this baby? (I’m feeling little movements, but not much else, It’s really too early for movement).
Then I started to panic. The baby is dead. I know it. No heartbeat. I KNOW IT.
When we got home from the movies, I asked my husband if I could get a Doppler to keep track of the baby’s heartbeat.
SIDE NOTE: My husband never tells me no. I am spoiled rotten.
He said no!
He said he doesn’t want to deal with the days when I can’t find the heartbeat on my own. He thinks that stress will be too much for me. He thinks it will be too much for him.
“I don’t care if you find one for free,” he said. “I don’t want it.”

So now I have to wait until July 8 to find out if this kid is still kicking in there. That’s two whole weeks!
I was even tempted to go to the local “free clinic” where they charge you $50 per appointment and see if they have a Doppler and could check the baby.
I don’t know if a Doppler would help or hurt this situation. As with everything with this pregnancy, I am without answers.

On another note: still nothing on the target genetic test. I’m hoping for results by Wednesday, but I bet it comes in later than that. Wednesday will be 10 business days since my CVS. I’m just ready for some answers.

Did You Feel That? - Week 12

I was so tired when I got home last night, I could barely make dinner. I finally got the meal made and was almost too tired to even eat it.
I was dozing off in bed when I felt it — I swear to you I felt this baby squirming back and forth! I WOULD say that it was gas or something, but it was rhythmic - somewhat consistent - like a muscular fish flexing in there.
I really am pregnant, y’all!
I also had a surprise this morning while getting dressed. My shirts fit over my belly, but they do not accommodate my newly ample bosom. My babies always send me up a bra size, but I never get to keep that nice full B cup. Now the fat I collect on my rear is a different story...I’ll have to work my butt off — literally!
I’m getting more and more anxious for the results of the genetic testing. I was playing it so cool for a whole week and now I am starting to chew my fingernails over it. Let’s hope the results are in next week.

The First Call - Week 12

I got the call we have been waiting for this week. This baby does not have any trisomies. That’s right - 46 perfect little chromosomes.
While most parents would pat themselves on the back for being so genetically sound, we breathed a big sigh of relief and then went right back to worrying.
Both our boys had the correct number of chromosomes. In fact, other than the 1g, there wasn’t much wrong with them. That means that we got the “good news” from the Cleveland Clinic seven times - two FISH, two SNP, two microarrays, and one target test for Smith Lemli Oplitz — all perfectly clean. Nothing to see here.
So that leaves us with a minimum of seven days wait for the target test. MINIMUM.
So, yes, yay for no trisomies. But this ain’t over yet.

Up All Night

Like a shot in the night, I sat up in bed. I was stressing out about my new job, about turning in my letter of resignation for the old job and everything that leaving entails.
I tossed and turned, keeping my eye on the clock. It was 3 a.m., then 4 a.m.. By 4:30 I had flopped onto my stomach and my mind turned to an idea I have been kicking around for a long time. My book.
Doctors and nurses and others have encouraged me to write about genetics, about termination and testing and decisions and dead babies and exomes. I’m a writer by trade, so who better to discuss the process, put the pain into words?
The desire to write about it turned into my blog Beyond the Exome, but that was mostly because I couldn’t find ANYONE else who was going through the exome process. There is no emotional handbook for that long wait for possible results. No one holds your hand through it, though I do have a genetic counselor who should get paid double for her efforts as a therapist. She is amazing.
I chose to write about exomes to give other people a little bit of a roadmap through the process, but also to give myself a “nuts and bolts” topic: Not how I’m feeling as the mother of two dead babies — other women have already written about that.
The idea to write about the terminations and the genetics feels like the right thing to do, but how to start?
I didn’t have to start — my brain did it for me. I flopped onto my belly and the words started to form in my head. An abstract idea formed into an essay.
So like Ernest Hemmingway on a creative bender, I got out of bed and turned on the computer and started to type. I wrote it all at once, which probably means it’s crap. Nothing stopped me. I didn’t stumble over words or fuss with the phrasing.
I love what I wrote. This introduction feels like more than an introduction to a book - it feels like a warm welcome after a long day at work. Like I had to come to this or it had to come to me, the hard way. There could be no forcing it.
Even if I write this book and no one else ever gets to read it, I think I still need to write it. For me. And it feels really good to get that first part out of the way.

Loose Lips Sink Ships - Week 12

I don’t want to tell anyone about this baby. I mean it. Part of me has that “I don’t want to jinx it” feeling, like things are going so well and the first time I tell someone about it or even buy a package of baby wipes something will go bad.
I’m also incredibly fearful of the reaction to my “happy news.” With John, everyone was so excited. We had so much fun telling everyone! With Drew, some people looked at me like I was nuts to try again. Some people cried not-so-happy tears. I ignored them. I was happy. I marched on with the determination that my baby was going to be just fine.
Except he wasn’t. And a lot of people weren’t surprised.
So here we go again. I don’t want to worry about what other people think of our decision to have another baby. I don’t want to see the looks of certain pity. We are definitely waiting until the genetic test and the anatomy ultrasound come back clean to tell anyone, but I am tempted to hold out even longer.
I suppose if it were up to me, I’d just call everyone up in December and congratulate them on being grandparents. “We want nothing but diapers for Christmas, for no reason at all.”
I spend Sunday with my in-laws and my best pregnancy disguise was a glass of wine. I carried it around with me and pretended to take little sips here and there. My husband drank all of his and the switched glasses with me so it would look like I drank it all. I wear Trendy Tops, which are like Belly Bands but cheaper. I’m loving yoga pants, which I actually wore to work today. I think my co-workers have guessed, but with the new job they won’t get to guess much longer. Then I just have to fool a bunch of new people.
My best friend is pregnant with her second child - a boy. I call her and we talk about horses and work and the new job, but we never discuss her pregnancy and certainly not mine. It feels strange to keep something from the one person who could likely understand me best.
At some point, the reactions of the people who love me most have done something to me that I can’t seem to wish away: I am more afraid to tell people that I am pregnant than I would be to tell them I am having another dead baby.
In my final therapy session, I talked with my counselor about my boys and how now that I am so far away from the terminations, I don’t ever regret them. I love them and they are a part of me, and I wouldn’t “un do” them. While their deaths were traumatic in every way, their lives have become something I carry with me every day. I would miss them if I didn’t have their little spirits with me. That’s a new feeling and it feels pretty good.
That means that even if this pregnancy doesn’t work out the way all pregnancies should just work out, I won’t regret getting pregnant this fourth time.
I just wonder if everyone else would regret it for me.

Round ligament pain and other pregnancy happiness - Week 12

I am no longer peeing every 15 minutes, which is very nice at night, but I have developed Round Ligament Pain. Ugh. Terrible, sudden shooting pains up my belly and into what feels like my cervix. I had these with my son John, so I know it isn’t going to kill me or the breadcrumb, but my poor husband barely survives these pains.
He just doesn’t know what to do, he fears something is really wrong. I swear he is going to die of a heart attack before we meet this little one. Everything, everything is a big deal when you are analyzing each and every detail of a pregnancy.
The morning sickness is all but gone. I am feeling dizzy and weak most of the time, which is attributed to the increase in blood flow due to the baby. Showers are the worst for this and there is no worse place to pass out than in the shower.
The app on my smart phone tells me breadcrumb is the size of a lime and I LOVE those little food comparisons. I sought out a lime in the grocery store today and felt more like an expectant mom than ever before.
I still can’t go into the baby section at the store. I can’t look at all the clothes and bottles and diapers. It still hurts too much. I had such huge hopes for both my boys — and especially Drew, my youngest, who was supposed to be my “rainbow baby.” Who has a rainbow baby and doesn’t savor every second of it?
Me, now.
This is *very hopefully* our rainbow, but I can’t enjoy it like I wish I could. I figure we have a minimum of nine days left before we get the results of our genetic tests, and even after that I won’t likely buy anything or plan anything until after we go to the early anatomy scan on July 8. I just won’t be able to relax until I see about diaphragmatic hernia, cystic hygroma and neural tube defects. Those are my focus. I’m not sure why. I guess because Drew had cystic hygroma and the hernia, unlike his big brother. So I question, of course, whether these were part of the glycosylation or rouge defects that lead to a higher chance of future babies having them?
The world may never know.

Fearing the brown stuff — more from week 11

I think it's time to share a little photo of the breadcrumb. Here "she" is, with her totally normal NT and non-recessed chin (that we know so far). How much I worry over this little one.

I had no pain following my CVS, but my worrywart husband insisted I rest the entire day and the entire following day. He walked in from work as I was changing the sheets on the bed and said, “Why are you standing up?”
I love him.
The rest of the week went well. I worked Friday with no problems, but noticed brown spotting on Friday evening. It was the same Saturday and Sunday, prompting a fairly crazy freak out in our household.
We were absolutely stricken by fear. The good news is that the brown has stopped, though my husband now knows WAY more than any man should EVER know about cervical mucus. Oh well.
We are still waiting for any, Any, ANY genetic test results. We still have not gotten our initial trisomy report, though because everything went to Baylor, it might just all come in one report. Here’s to hoping no news is good news.
In events completely unrelated to pregnancy and mucus, I have a new job. What?! Yes.
I have been t a job I love for nine years. In that nine years I have never received a cost of living increase or raise. My healthcare costs have doubled and we are furloughed 25 days of the year. That equals roughly 10 percent of my income.
The good news is that my husband makes enough money that my paycheck, while necessary for household operations, doesn’t have to bring in very much. But looking around a business and knowing that I am here because I have (often narrowly) escaped layoff several times is not comforting.
While at a wedding several weeks ago, I met the employees of a national retailer. They encouraged me to apply for the job, and I did. Now, I wouldn’t have normally even applied: I love my job, I am content.
But my grandmother always did say that there is no greater sin than a wasted opportunity, so I sent in some of my work samples. They loved it. I coasted through the interview process and got the job.
Leaving my old job won’t be easy, but after two dead babies, a dead grandma and more therapy than I’d like to admit, I think it’s time for some internal and external changes in my life. I’m hoping that this job will give me a new perspective on who I really am and who I can be.

Onward and upward (hopefully).

More Hope, More Tests — Week 11

We went in for our CVS on Wednesday, and the doctor had ordered a further ultrasound and NT test! YES! We got to see our little breadcrumb (Hubby’s name for the baby) wiggling and waving at us. Best news yet: The scan was fine again! The NT measured 1.5 at the highest spot. Perfectly normal. A marker for NOTHING.
I high-fived my husband and prepared for the CVS. Hubby had to leave for the procedure. The big guy is a big wimp when it comes to needles, blood and doctors. How we will get through delivery is beyond me. He ain’t not seen nothin yet!
The doc got me in the chair and poked through my cervix with her big curved needle. She got a sample, but it didn’t look big enough. Unwilling to wait for samples to be grown, I asked her to try again, and she got enough the second time. She said everything went textbook perfect, which means a lot because we all know that CVS carries a small miscarriage risk.
The tech was so great. She showed us everything and explained everything and answered all our (many) questions. Everything they saw looked fine.
We go back for a cervix check in late June and an early anatomy scan on July 8.
We have made several decisions within the confines of our situation. First, while we will know the sex of this baby at some point in this pregnancy no matter the outcome of the genetic testing, we asked our genetic counselor to keep it to herself until the glycosylation test comes back. This is so we can’t get too excited, in case of bad news. Once you find out the gender of the baby, it’s hard not to think of names and nursery themes and clothes. We can’t do that to ourselves in this two to three week wait.
Second, we asked for all the usual genetic testing as well as our elitist genetic sequences. We take NOTHING for granted. Just because this child may not have glycosylation, he or she may very well be affected with something else.
So for yet another week (or two) we wait. Again. Again, we have even more hope for this little one.

With Both Feet - Week 10

We went in for our NT scan, and just as I feared, it was too early to do the CVS at 10 weeks 3 days. The tech measured the NT at 1.3mm. I had decided not to even look at the screen — we were far, far to educated in these things at our second son’s scan and knew before it was measured that it wasn’t good at all.
But I glanced up and said, “That looks so...NORMAL!” and it was.
Our high-risk OB looked at everything she could see — a three vessel umbilical cord (the boys had two vessel cords, another soft marker for possible chromosomal problems) and we could tell, especially with our second son, that his heart was out of place and something was wrong with his brain. Turns out he had a severe diaphragmatic hernia and his stomach, which was in his chest cavity, was pushing his heart forward.
But there was none of that stone silence at this scan. We left with ultrasound photos in our hand and a sense of optimism we had never felt with our previous pregnancies.
But there was that looming fear, too, because we had gone in too early. Could the number change? Could something serious have been missed?
Because we have to do the CVS (genetic testing done with a tissue sample taken through the cervix) anyway to either confirm or rule out glycosylation, we had to schedule for the next week. The CVS can’t be done before 11 weeks. So we wait again, this time with guarded hope.

False Starts

False Starts

I typed about a month’s worth of blog posts - quickly, without thought, full of grammatical and spelling errors. I figured I would go back, publish them all at once so when you read this you’d know where I was from the beginning.
Except my work computer ATE the blog posts. All of them. Gone.
So again, I start anew.

I tried to be official about it - start up with Blogger proper today. But Blogger had other plans and wouldn’t let me sign up a second blog. So we are back to this. You’ll just have to get two updates in one day.

In case you haven’t guessed, I’m pregnant. For most people, the news of a planned pregnancy is fun and scary and exciting. For me, I peed on a stick and cried. I lost two boys to congenital disorder of glycosylation 1g last year. You can read more about my poor boys and their unfortunate genetic makings HERE.

After back-to-back terminations (one in March, one in October), and a blighted ovum in the middle, we found out by EXOME sequencing that we carry a rare and fatal recessive genetic disorder. This means that we have a 25 percent chance of having an affected baby with each pregnancy. Unwilling to go through the terror of termination again, we decided to go with IVF/PGD - expensive, miserable, risky IVF. It was not a decision we made lightly or happily, but we celebrated with a bottle of amazing cab merlot and a fancy dinner.
A month later I peed on a stick and cried. Then I sucked it up, put on my big girl panties and canceled the appointment with the reproductive endocrinologist.
Game on.
There was a big part of me that was convinced that this baby was another blighted ovum. In my mind, the early miscarriage of an unviable embryo is much less traumatic than the termination of a viable fetus.
Doctor’s appointment after doctor’s appointment showed a little bean with a hummingbird heartbeat. Every time I went in and sat on that paper-covered bench, I was certain of bad  news.
Then came the big, scary NT scan. See, with my first son, we didn’t get the NT scan. No one knows if I denied it or if it wasn’t offered to me. Certainly no one explained what an NT scan is or what it does or what it means. People blithely call it “the Downs Syndrome Test” which is stupid, stupid, stupid.  They decline the test because they believe, stupidly, that a). it has a high false positive rate, b). that if you are young and have no family history that you don’t need the scan and c.) that it only tests for DS.
Such is not the case. An increased nuchal translucency (the thickness, in millimeters, of the space behind the baby’s neck), is a soft marker for chromosomal or cardiac issues. Chromosomal means ALL THE CHROMOSOMES. ALL THE GENES. ALL THE PROBLEMS.
And the so-called “false positives” are a misnomer as well. See, you can’t have a “false positive” on a scan that yields NO positives and NO negatives. All the NT measurement does is place a value of RISK on a pregnancy. What is the POSSIBLE RISK of chromosomal issues, such as and including Down’s Syndrome? If the risk is shown as increased, further testing can be done.
Let me put it this way: If you called your insurance agent and asked him to do an assessment of your home based on risk of fire, and he said “Wow, you have a lot of space heaters and candles in this house. I think you might be at increased risk for a house fire.”
Would you take that to mean “Dude! Your house is on fire!”
I didn’t think so.

Ignorance, I can tell you, is not bliss. We found out that my son, at 19 weeks gestation, was doomed. We did not have a genetic diagnosis, so we used our last weeks of my pregnancy to get every test and see every specialist we could as we prayed for a miracle that would never come. A late term termination is a rushed affair, leaving a mother with no time to prepare herself, no time to grieve. Your body is ravaged and your soul is damaged. Losing my second son was no picnic, and I grieved harder for that baby than I have ever grieved in my life. But physically, my body, which still did not understand, forgave sooner.
Not going to terminate because you WOULD NEVER DO SUCH A THING?
I get it. Want to have a live baby with the best chance of staying alive? Have the NT scan and know your medical options for that child. Know if you need a level three NICU, a surgeon on call, a high risk delivery room with a team of specialists waiting. Determined to do all you can? All you can starts with early assessment and a medical plan. IT STARTS WITH AN NT SCAN.
So we scheduled ours for our third pregnancy. And we waited for 10 weeks 4 days to arrive. And it did.