Before the beginning, part 2

This is the second post in a three part series: Part 1, Part 3

When we last spoke, we were waiting to find out of the cystic hygroma was going to develop in to hydrops, a potentially fatal condition for our little girl.

After five long weeks, we finally arrive to our 16 week ultrasound. The tech is doing all the ultrasound tech things, and we are waiting patiently. She makes what seems to be an offhand comment about trying to find the bladder, then says she needs to step out.

But before she can, we ask her: Hydrops? Cystic Hygroma?

Her answer: All good!

We are incredibly relieved, and yet the last time the ultrasound tech needed to step out, we got some pretty rough news, so our relief was tainted with a bit of dread.

As it turns out, that dread was warranted. While our little one had cleared her cystic hygroma hurdle, we were now hit with a huge number of new issues:

  • No bladder visible
  • No nose bone
  • Left eye orbit smaller than right
  • Part of left brain smaller than right
  • Single line umbilical

While that is a large list, the biggest issue that the doctors seemed concerned about was the bladder. While they couldn’t find it, they did note that the fluid around the baby was normal, implying that she was both taking in and excreting the way she should. They also noted a mass below the umbilical.

Diagnosis: Bladder Exstrophy

If you are new to this term, that is expected. It only effects 1 in about 40,000 births. Essentially, the bladder forms outside the body instead of in. Another way it was described is that we essentially start flat in the womb, and as we fold over, we zip up down the middle. With bladder exstrophy, the zipper gets stuck, and parts of the body form outside instead of inside.

Over the next few months we discover that because of the rarity of bladder exstrophy, the doctor at MUSC only does 3 a year on average. After some research and discussion with our local team, we decide that Boston Children’s Hospital will take care of her exstrophy, and schedule a prenatal appointment for two days before Christmas.

Before the beginning, part 1

This is the first post in a three part series: Part 2, Part 3

After the birth of our second daughter Claire, Tori and I were a bit at odds as to whether our family was complete. I had been under the impression that we were having two children, she three.

After a couple of years, I decided she was right, and three was the number for us. It took a few more years, but one day, Tori surprised me with the news that we were pregnant. We were very excited about our addition – telling the girls, would it be a boy or a girl – all the usual stuff.

As Kaitlyn’s pregnancy had gone a little sideways at the end, and we had spent all of Claire’s with MUSC’s high risk clinic, we decided to stick with MUSC as our care provider. A bit over five years after the birth of our last child hadn’t changed much in obstetrician care, but we were surprised to find out that MUSC likes to do a first trimester ultrasound at 11-12 weeks.

And that is the moment that the roller coaster left the loading zone and started to make its way up the first hill.

At the ultrasound appointment, everything seemed to be going well. Towards the end, the ultrasound tech mentioned she was having an issue with the back of the neck, and stepped out for a moment. Coming back with a doctor, the continued the scan for a few moments, and then turned on the lights.

Our baby has a cystic hygroma.

We were stunned, though honestly, we didn’t really know what this meant. The doctor got us in to see a genetic counselor, and she explained that there were a few different outcomes ahead of us. First, our baby had a roughly 50% chance of developing fetal hydrops, which – as we understood it – would mean she would not make it to birth. Second, our baby also had a 50% chance for a chromosomal abnormality, such as Down’s or Turner’s.

Obviously, this was shocking news to us. To identify if any chromosomal issues existed, Tori could give some blood, and MUSC would send it off to a lab to sort out bits of fetal DNA from her own, and see if there was anything there. When that test came back, we were told that they had not detected any chromosomal issues, and that baby was a girl. Hello Julia!

For the hydrops, though, the only thing we could do was wait. Five long weeks had to pass before we would know how this coin flip would land.