Our 6-week roller coaster (that all started with a routine anatomy scan)

Wednesday, October 28, 2015

I know I've been vague as to what's been going on with Baby Girl Hamilton. The truth is, we haven't known what is going on with her, either. Here's the road to where we are now - forgive me, this is lengthy! But maybe it will one day find its way to someone who is facing something similar.

Tuesday, September 15: Our routine 20-Week Anatomy Scan
Although I couldn't wait to see our baby on the ultrasound - it had been 11 weeks! - I knew it wasn't a given that everything would be perfect and we'd go in, have a 30ish-minute scan, hear the sonographer and doctor say "Everything looks great! Baby's right on track! Here's the envelope containing the gender of your child!" But I sure hoped it would go like that.

My gnawing feeling in my gut was right. About 15 minutes into the scan, the sonographer said "Okay, here's what I'm seeing because I want to be honest. It looks like some of baby's intestines didn't make it back inside the body. I'm not sure and I'll have to have the doctor look at it, but I think this might be what's called an Omphalocele." Ummmm....what? As we blankly stared at her, she said reassuringly, "It's correctable." Okay. But still scary.

Not 5 minutes later, she said "I'm also seeing something with the right foot. It's turned in. This is what we'd call a club foot." What???

We didn't immediately break down or cry or anything. We just quietly sat there holding hands while she finished the scan. When we spoke to the doctor a few minutes later, she confirmed both assumptions. Lots of information came flying at us...both are correctable after birth...nothing to be done in utero...will want to deliver as close to full-term as possible to doctors can operate on a "fat baby"...we'll need to be in the care of a Maternal Fetal Medicine specialist going forward. And then the bomb: because there were two physical abnormalities seen, we'd need to rule out possible chromosomal abnormalities. Our hearts sank. We left feeling confused, sad and terrified.

Wednesday, September 23: First visit and scan with MFM (Maternal Fetal Medicine) Specialist (21 weeks)
Between these two appointments, we'd proceeded with our Gender Reveal party since all of our parents were coming into town anyway, and I'm glad we did. We found out baby was a GIRL, but wanted reassurance since the sonographer at the 20-week appointment hadn't been 100% sure.

Also between these two appointments, I'd tried to do minimal googling (difficult!) because I didn't want to scare myself. We still weren't sure if my doc was right or how severe the condition could be. I'd asked Alex to do a little research and sugarcoat it for me, which he did wonderfully, and that helped.

This day, we first met with a genetics counselor to discuss our options for genetic testing, our family and medical backgrounds, and discuss some of the possible chromosomal explanations for two abnormalities. It was scary, but nothing we didn't already know thanks to Alex's research. We asked if we could proceed with having an amniocentesis that day to get the ball rolling, and she said yes.

Meeting with our MFM specialist, he reassured us that omphaloceles are not terribly uncommon (one in 5,000-10,000 births) and that they were fixable. He calmed my fears about my assumption that I would definitely have a C-section ("it depends on how big the omphalocele is") and said we'd likely schedule an induction or C-section if needed at about 37 weeks pregnant. He also reassured us that the club foot is very common and may or may not have anything to do with the omphalocele, and that it was really no big deal in the scheme of things.

Then we had our ultrasound (yes, this all happened the same day - we were there for about 5 hours!). The U/S lasted about an hour and a half! The sonographer was carefully looking at EVERYTHING extra closely, especially baby's heart since heart defects often accompany an omphalocele and can be a sign of a chromosomal disorder. What a relief when we we were assured that all major organs and spine looked perfect! With the MFM in the room, we heard what sounded like music to our ears: "I disagree with the diagnosis of an omphalocele. I don't see anything there." Trying not to get our hopes up, Alex and I looked at each other with tears in our eyes when we were left alone in the room for a few minutes. But then the MFM came back in and said after reviewing the images again, there was something there but he didn't think it was an omphalocele. Okay, we thought. This is still potentially good news! We proceeded with the amniocentesis anyway, which wasn't that bad, despite the terrifying long needle that cam precariously close to my baby! We scheduled another appointment for the following week and left feeling hopeful and optimistic. And we also got confirmation that baby was a girl!

Friday, October 2: Another Ultrasound and MFM visit (22 weeks)
Baby girl was not in a cooperative position for most of the scan on this day. She was actually sort of "hugging" the placenta, making it impossible to get a clear look at her chest and abdomen, which is what we needed. But the sonographer proceeded with the rest of the exam and everything seemed okay. The MFM came in to discuss. At last, after at least an hour, baby girl shifted slightly so we could see her chest and abdomen and the MFM concluded that yes, there was something there that wasn't quite right, but it still wasn't textbook omphalocele or anything else. He even suggested it could be that she'd have a slightly bowed-out breastbone and that could be it. Good news!, we thought. This was sounding positive. Our MFM wanted us to have a fetal MRI done, since that would provide the clearest pictures possible of our baby even if she was in an uncooperative position again. So we left with a plan: await amnio results (still nothing at that point) and get our MRI scheduled, hopefully in the next few days.

Tuesday, October 6: results from amniocentesis (23 weeks)
The genetics counselor called late this afternoon with GREAT news: our baby has 46 normal chromosomes! This ruled out Downs and all of the Trisomys, spina bifida, and other life-altering chromosomal defects. We still didn't have the results of the microarray (where they look at the tiny sections of each chromosome), which could still mean challenges ahead. But she assured me that this was very, very good news. And she also told me that chromosomally, baby was in FACT a girl! Okay, I can buy pink stuff now!

Tuesday, October 13: MFM visit and ultrasound (24 weeks)
Our regular MFM was out of town, so we saw a MFM who was visiting from Charleston. This was good, because he could see the baby through fresh eyes and he was clearly very experienced and knowledgeable. Our U/S started off the same, and thankfully baby girl was in a more cooperative position this time, though still not entirely helpful. Because we still didn't have mircoarray results yet and still hadn't had our MRI (which was delayed due to the flooding in Columbia), we didn't have any more information than the last U/S other than the results from amnio. The new-to-us MFM came in and expressed concern for what he was seeing on the U/S. He rattled off a number of possible explanations - some of them lethal disorders, others that would mean potentially severe disabilities. Our hearts were breaking right there in that room. All the hope we'd had went righto out the window. While he couldn't say anything for sure, he was throwing all kinds of disorders and diseases and syndromes at us, and said we might need to see a specialist in LA or Philly or even London since some of these things were so rare, and that we were looking at a very complicated road ahead. Complete devastation.
I had to go to work after that, so I somehow held it together until my drive home from work that evening when my mom called and I told her everything. Alex and I were in shock and felt broken. There were many, many more questions than answers.

Thursday, October 15: Fetal MRI (24 weeks)
Rising at the early hour of 5:15, we arrived for our fetal MRI promptly at 6:10am. I was instructed to take an Ativan when I arrived to make me - and most importantly, the baby - drowsy, so they could get clear images of baby girl. The MRI lasted about an hour and it wasn't bad, other than the unnecessarily loud noises that come from that machine! We were sent home with a copy of the images and told that a few people would collaborate on the images to determine what they saw. When we got home around 8:15am, we looked at the disk of images, knowing full well we wouldn't be able to tell what we were looking at. But what struck us was a few pictures of the baby's whole body, including her abdomen and chest, where we couldn't see any sort of protrusion or anything that seemed out of the ordinary (to us - the non-doctors). We waited for someone to read the images and tell us what they thought.

Monday, October 19: results of our MRI (25 weeks)
Our MFM called me at the very end of the day (after I'd been nervously awaiting a phone call all day). He had mostly good news for us: first and foremost, our baby looks "structurally normal" - PTL! She also does NOT have an omphalocele and all her organs are inside the body. Her lung volume is also right on target. However, her chest is smaller proportionately than her abdomen and her abdominal wall, though is it definitely there, lacks "structural integrity" and seems to "jiggle." Hmm. Not sure what that means. He tells me we'll wait for microarray and we'll discuss everything the following week at our next appointment.

Friday, October 23: results of Microarray - remainder of genetic testing (25 weeks)
After waiting an excruciating 4.5 weeks from our amniocentesis and 2.5 weeks after the amnio results, I finally got the phone call from the genetic counselor with the last (we hope) major piece of the puzzle. I was home alone and it was just after lunch time. Her voice sounded positive and not at all apologetic, so I had a peace about it before she even started in. She cut right to the chase and said "We have a normal microarray." I got off the phone with her and burst into happy tears, praising God for this good news! There are so many things that can be found in a microarray that to have a normal one was such an answer to prayer.

Tuesday, October 27: MFM visit and ultrasound (26 weeks)
We waited an hour and a half in the waiting room (with a very interesting cast of characters...) when we were finally called back to our ultrasound. I had just gotten on the table and the U/S had been underway for about 3 minutes when the fire alarm started going off and we had to evacuate! All I could do was laugh. I had a feeling we might be getting some good news and I was praying the waiting and fire alarm was just delaying the good news we'd ultimately get. Eventually, we were allowed back in the building after the Fire Dept. took their sweet time to arrive and clear it!

The U/S backed up the MRI from 2 weeks ago, and our MFM repeated what he told me on the phone about the MRI results. In short, he told us that yes, there's something going on with the abdomen that is making it behave differently and giving it that jiggly appearance. What? We don't know yet. We might find out in a few weeks as she grows, but it's most likely we won't know until she's born. I asked him point blank if he thought that whatever it was could be lethal - the one thing I needed to know now - and he said with confidence that all of her organs look and are functioning perfectly and there's nothing that points to this being lethal at this time. Praise the Lord!

He also told us that this would be treated mostly like a regular pregnancy from here on out - another good sign. We'll just have more ultrasounds than the average family! Furthermore, I asked if he thought I'd need a c-section at this point and he said he's still on the fence and doesn't want to make a call yet. I take that as another good sign that a c-section isn't a sure thing.

So, what's next? We wait and see what Baby Girl does and how she grows. I'm praying that the next several weeks of her cooking in there and God's healing hand will take away this mystery. Most of all, I'm grateful that she has a good prognosis and we can actually start to get excited about bringing home a baby this winter! God is faithful. We will continue to pray and wait for His perfect timing and plan!


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