Our Gracie Girl

When you're expecting, there's nothing more highly anticipated than the mid-pregnancy anatomy sonogram (well, except maybe the actual arrival of the baby!). It's (usually) your first opportunity to take a look at who's in there... to see a fully formed baby squirming around. The anticipation is especially intense if you've elected to discover the baby's sex (and we had). Friday May 16th was "the day". To say that I had been waiting with bated breath would be a serious understatement.

It was POURING rain, but that did little to dampen our excitement. We dropped Eli off at day care and headed down to the hospital, so relieved that "the day" had finally arrived, and the sono was finally happening. We went back to the ultrasound room, me with my uncomfortably full bladder all ready for the scan, and Ben with an excited grin that he just couldn't seem to shake. Within 10 or 15 minutes, we had the view we'd been waiting for... "it's a little girl!" You should have seen Ben's face. He was SO excited to have his little girl, his son's baby sister! Of course I, too, was thrilled - I'd had a strong suspicion that it was a girl, though I admittedly felt a little nervous at the prospect of entering into the uncharted territory of pink princesses. But I digress. The rest of the scan went on relatively uneventfully. Having some (albeit limited) experience with ultrasound as a medical student, I thought I had some sense of what I was looking at and everything looked reasonably normal to me. Given the outcome of Eli's anatomy sonogram, we were anxious about the kidneys in particular, but they looked fine and we could see good blood flow to both. We were quite relieved to have apparently dodged that bullet this time around. There would still be the question of Cystic Fibrosis, which rarely produces any sonographic abnormalities (so we didn't expect any news on that front at this appointment), but for now we considered this a victory.

We were dismissed out to the waiting room to wait for a chat with our OB, which seemed relatively routine. After waiting about 10 minutes, Ben was looking visibly anxious and asked if I thought that the long wait meant that something was wrong. I joked that she was probably wolfing down the last of her lunch, and even if there was a problem, what were they gonna tell us... maybe the kidneys didn't look as good as we'd thought? Whoop-de-doo. Been there, done that. It'll be fine.

Soon after that exchange, our doctor came out and called us into her office. With a deep sigh, she invited us to take a seat. That didn't seem like a good sign. She started the conversation with "I'm so sorry guys, I don't have any good news for you..." I could see the pain in her face. I felt my stomach tighten. She went on to inform us that there were several serious birth defects, including spina bifida and omphalocele, and that the presence of two such severe abnormalities was likely due to a chromosomal abnormality. All I could do was keeping nodding and repeating "Ok." "Ok." "Ok." I heard Ben start to sob. I couldn't really see him sitting next to me, I had such tunnel vision. I reached out to wrap my arm around him as I asked a few questions. I couldn't even tell you what they were now. She could only speak in relatively vague terms, saying that it was likely a trisomy 13 or trisomy 18, didn't look like Down Syndrome (trisomy 21), likely poor prognosis, slim chance of survival to term... I just sat there in disbelief. This isn't supposed to happen to young people. This can't be right. Surely we were going to wake up soon. Then through tears, with a broken and strained voice, Ben asked "Will we be able to hold her?" ...and that was when I finally lost it.

Our doctor left the room to make a phone call down to the prenatal genetics office in the hospital - she wanted to make sure that we got in that day and didn't go home to spend the weekend stewing over this earth-shattering news with only vague information. Bless her heart, she was able to get us in within the hour. We wandered through the hospital like a couple of puffy-eyed zombies, following the typed directions we had been given. We stopped for food, both simultaneously starved and on the verge of vomiting. The genetic counselor that we met with explained more about the defects that had been found on the OB's ultrasound - that spina bifida is a defect in the vertebral column that allows part of the spinal cord to protrude outside of the protection of the bony spine. That this protrusion during development pulls downward on the brain causing it to take on an abnormal "lemon" shape. That depending on the location within the spine, there would likely be no bowel or bladder control, and she might walk but likely would not. That it was hard to say what cognitive or developmental difficulties it would cause. That the defect itself was correctable with surgery, but that the neurological damage was permanent. That the omphalocele is a protrustion of the intestines (and sometimes the liver and other digestive organs) outside of the body, covered by a thin sac. That it is surgically repairable and in itself not a devastating defect, but that its presence usually heralds the presence of a chromosomal abnormality, especially coupled with the spina bifida. That the next ultrasound we would have in their office would be more detailed, look for more defects, try to characterize this "syndrome" more clearly. That we would be offered an amniocentesis to provide us with a definitive answer.

Next we wandered back down the same halls we had just stumbled along, to the lab for a blood draw, as I would need a Rhogam shot after the amniocentesis and they had to check something else first. I don't even know. That was quick and we returned to the prenatal genetics office for our more detailed ultrasound. They repeated the entire scan that had been done in the OB's office, paying close attention to the finer points like fingers and feet and fine brain structures. She was so squirmy and active and alive, giving the ultrasound tech a fit as she tried to capture still images... it's still so difficult to reconcile those images with the idea that this child is unlikely to survive pregnancy. And nothing about her really looked "abnormal". I could see the omphalocele, but that was it. She had a perfect little profile with an adorable little nose, ten fingers and ten toes, two arms, two legs and a beating heart. She was even measuring on-track as far as her size, just a little small in circumference.

The OB geneticist came in to scan around herself and try for a better view of a few structures that the tech had struggled with. She explained to us a few more abnormalities that they had found - at least two fused fingers (called syndactyly), one foot that was curved upward, and a small brain structure connecting the hemispheres that didn't appear to be completely formed. Her heart was structurally normal, but appeared enlarged. The bottom line was that the OB was feeling relatively certain that this would prove to be trisomy 18 (also known as Edwards Syndrome), which involves an extra copy of the 18th chromosome and is generally considered to be incompatible with life. Most T18 pregnancies end in stillbirth, with surviving infants usually only living a few hours or days, and the rare exceptions surviving weeks or months. She suspected that given the severity of these defects, our baby would not be one of the rare exceptions, and would be more likely to pass away in utero or within hours to days if she survived to birth. And she was clear that even if it wasn't T18 specifically, the prognosis for this baby with these defects was likely just as poor.

We proceeded with the amniocentesis, in desperate need of a concrete answer. It wasn't even a conversation that we needed to have given our mutual convictions regarding the sanctity of life, but to be clear, the amnio was not about decision-making regarding termination. We just needed to know what we were facing, to be able to confidently put a name on the condition, research it, and prepare ourselves for what lay ahead. We were relieved to hear that results would likely be available on Monday, and we left the hospital that day feeling as though we had a sufficient grasp of the situation. Seeing my healthy, happy baby boy running up the side yard at day care to greet me that day was incredible, and exactly what I needed. All I needed in the world was to hold him tight.

It was a rough weekend, to say the least. We stayed busy with the help of friends and family, but there was a lot of crying, many angry outbursts (not at each other, of course), many ugly thoughts that I'm not proud of. I can't even begin to describe the range of emotions that one goes through in facing a situation like this, but there is also a lot of natural numbing that goes on. That's probably a topic for another post (or several). At any rate, by the end of the day Sunday, I had made significant progress toward shifting my perspective. We were no longer anticipating a child that we would raise together, that would drive her big brother crazy, that would eventually bring boys home (to find her daddy cleaning his .45 at the kitchen table)... we would be living out a difficult pregnancy, day-by-day, in the hopes that we would make it long enough to meet her alive and treasure a few sweet hours, maybe days if we were lucky, together.

Monday (today) came, and I anxiously stalked my phone all day long. I was scheduled for an emergency department shift at 3pm, so I had hoped to get a call before then, but no such luck. Of course 10 minutes into my shift, the phone rang. It was the genetic counselor. She had results. I found a semi-private area and sat down, and she told me that it wasn't anything that we had discussed previously... it was actually worse. Every chromosome that they had looked at with the quick screening test was present in triplicate, indicating that we were likely dealing with Triploidy, a condition in which there is an entire extra set of chromosomes (not just one extra, as in the trisomy syndromes like T18 and Down Syndrome). Normally we have two copies of each of our 23 chromosomes, for a total of 46 chromosomes in every cell. T18 babies have two copies of all chromosomes except 18 - they have 3 18's - so they have 47 chromosomes. Triploid babies have 3 copies of all 23 chromosomes, for a total of 69. Triploidy actually occurs rather frequently, but it usually results in first trimester miscarriage and families aren't even aware of it. Triploid pregnancies only rarely persist into the 2nd or 3rd trimester, and almost never reach term. There are a few case reports of triploid infants surviving a few hours or days beyond birth but it is quite rare, and there is no possibility of longer-term survival. A more complete survey of the chromosomes will be done over the coming days to confirm the diagnosis, but there is little doubt at this point.

And so now that I have an answer, I am prepared to share our news. Our sweet baby girl, aptly named Grace, has Triploidy. She likely will not survive to term. Our hearts are broken, but they are also opening to a different experience of maternal and paternal love. I will carry her for as long as God sees fit to leave her tiny little soul in my care, and we will love her as fiercely as we know how. We don't exactly know how to do this, but we know from Whom the strength will flow, and we know that this thing that He has called us to do is a noble thing. We know that we will be blessed through this experience, and we hope that many untold blessings will fall on others as well.

Gracie, in all her half-a-pound of splendor, is a blessing to our family and a rare and inspirational wonder. Who knows how or why she has made it this far, but I am so glad that she stuck around long enough to be introduced to her mommy and daddy, to show us what a squirmy little fighter she is, and to give us this opportunity to show her an exceptional kind of love.


Hebrews 4:16 Let us then with confidence draw near to the throne of grace, that we may receive mercy and find grace to help in time of need.