Posts Tagged ‘genetic testing’


I wish therapy had been required postpartum treatment. Then it wouldn’t have taken me so many months to finally seek it myself.

Dots are being connected. Healing is happening.


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I. Examining The Pregnant Body


I look at this picture and still can’t believe that’s my belly. The third trimester must be when pregnant women get to really “feel” pregnant and get used to their new identity. I wouldn’t know, because I didn’t have a third trimester.

I had always thought I would make a great pregnant woman; in fact, various friends through the years have said so, too.  Maybe it has to do with body type?  If your body looks like the Venus of Willendorf are you assumed to be as fertile as a Midwestern field?



And perhaps the Olive Oyls of the world are thought to be less reproductive?


In my own personal experience, the opposite seems to be true. I know several Olives that made babies with no problem at all, whereas my Venusy body didn’t adapt well.


II. Bleeding

I had bleeding throughout the first trimester, which was scary every single time. Having had a miscarriage, of course I feared each drop of blood was my baby dying.  After ultrasounds and exams, the cause of bleeding remained unknown. Also, I was nauseous and exhausted for 16 weeks.


III. Down Syndrome?

The second trimester brought one singular fright, which dragged on for many weeks. We opted to have the genetic screening done, because what the heck, it would mean we’d get to see the baby one extra time in an ultrasound. And also, it would allay some worries.  The results were bad.

So, how it works is, various hormone and protein levels are tested in your blood work. When there is a chromosomal abnormality, most often your various hormone and protein levels are higher or lower than normal. The levels are entered into a computer. The computer calculates your risk factor for having a chromosomal abnormality, most commonly Down Syndrome. If the calculated risk is 1 in 250 or greater, you are considered “high risk” for Downs, or a variety of other abnormalities, and are directed to have an amniocentesis. My bloodwork was so off-the-map that our risk factor came out 1 in 3 for Downs, and 1 in 30 for something much worse than Downs that the baby would not survive.

This was very hard and sad and scary. We cried a lot. We met with a somber, kind genetic counselor in the Perinatal wing of the hospital, a wing most people hope they’ll never set foot in. We decided we would keep the baby if it did have Downs. This all happened at this time last year; on Thanksgiving we still didn’t know the outcome. We had to wait weeks to have the amnio, then more waiting after the amnio.

Then finally one morning, our first good call from the doctor: the baby is fine, healthy, no abnormalities. Flooded with relief and joy boundless. Yet we still didn’t know why the bloodwork was so off.


IV. Translocation?

Then a few weeks later, the genetic counselor called again to say that upon further scrutiny, the amnio did reveal a chromosomal abnormality called a  translocation.  So you know, every chromosome has a mate; they are a pair. Well, with a translocation, a piece of one chromosome leaves its mate and joins up with another pair.  There are combinations of triads that mean absolutely nothing because no genetic material is lost in the regrouping, and there are combinations that result in retardation, various health issues, death.trans1

More testing and waiting to see which kind of translocation our baby has: The totally harmless translocation (balanced) on the one hand or the seriously awful, devastating translocation (unbalanced) on the other. This means doing further studies on the amnio, and bloodwork on me.


V. What Are The Odds?

1 in 1,000 people have a translocation of the harmless sort, which is usually genetic.

I am one of them. And now, so is A.

Relieved, we are saved again, but feeling too emotionally exhausted to make a full recovery. How many more shoes are going to drop?  We still don’t know why the bloodwork from the genetic screening was so whacked beyond belief.


V.  Swelling

I looked sick most of my pregnancy. Pallid, pasty, very swollen and tired. The swelling led to bad carpal tunnel in both hands, which was especially bad at night.  I felt like something wasn’t right, but discounted it because who wouldn’t feel that way after having had so many things go wrong? Plus all of my pregnancy books, and my OB, described the swelling, carpal tunnel and fatigue as normal symptoms of pregnancy. So I just thought that for whatever reason, I was simply not the vibrant, glowing pregnant woman I had so badly wanted to be. We don’t have a ton of pictures of me pregnant.

I’m an artist, a painter. During my pregnancy, on the rare day I felt good enough to go to the studio, I was drawing volcanoes, couldn’t get enough of them. At the time, I didn’t know why I was obsessed with these big swollen mountains that look rather serene but could explode at any minute.  ha ha.

Here’s the volcano in the backyard of my fair city.  Actually, I had A in a building just barely off the left side of the picture.



VI. Growth Restricted

Because we still didn’t know why my bloodwork was so incredibly weird, my OB decided to do an extra ultrasound at 28 weeks. She said that sometimes weird hormone and protein levels can indicate a growth problem. I happened to schedule the ultrasound at 27 weeks. So, in we go at 27 weeks, February 5th, for yet another ultrasound where the technician is visibly concerned but not saying anything. There is silence, the rechecking of measurements, waiting while she gets the radiologist. There couldn’t be another thing wrong, right?  No, I’m sure everything’s fine. They just aren’t allowed to say anything. Yeah but she looked weird, concerned. The radiologist comes in and says we need to go immediately to the OB because there is a serious problem with the baby. He is growth restricted because the placenta is not functioning well.

In shock and distress, we make our way to my OB’s clinic. She isn’t there, so we see another doctor in her practice. She says that tomorrow morning my OB will most likely have me admitted to the hospital.

We don’t believe this could really be happening, and so don’t pack a bag.

But it is really happening, and in the morning I am admitted.


VII. Admitted


I am put on bedrest so that as much of my energy and bodily resources can go to the baby as possible. He is struggling to get nutrients from a placenta that is just not a good placenta as placentas go. Apparently you can have a healthy baby alongside an unhealthy placenta, even though they were made together in the same Big Bang of conception. We don’t know why exactly the placenta is bad. I am visited by perinatologists and neonatologists who give me warnings about what could lie ahead: extreme premature birth and its host of possible health problems for the baby, including heart problems, breathing problems, brain bleeding, cerebral palsy, hearing impairment, vision impairment, developmental delays, basic survival stuff, etc. I get the steroid shots to help with the baby’s lung development. They say they want to keep the baby inside me as long as my uterus continues to be more hospitable than the outside world. The outside world isn’t a very hospitable place for a 27-weeker, so I hate to think of the dreadful habitat my uterus provided. The doctors are excellent, and it turns out we have unwittingly landed in the best hospital with the best perinatal and neonatal care in the region. Knowing this helps.

The hope is that I will be in the hospital for three months for a full 40 week gestation. The realistic goal is three weeks, for a 30 week gestation. I make it three days. Three days that, aside from the odd jacuzzi dip and cafeteria lasagna, are a constant barrage of tests and frightening midnight ultrasounds.

My blood pressure goes up, protein is found in urine, I develop preeclampsia. My back aches in a new and strange way, like front/back cramping.  Once you get preeclampsia, you have earned twice-daily blood draws to make sure the condition doesn’t turn more serious. It does turn serious quickly and without much ado.

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