As I’m writing this, I am currently 37 weeks pregnant. Baby is officially considered “full term” now, which is a HUGE relief to have made it safe + sound to this point.
As I am heading into these final weeks, I have a lot weighing on my mind. Honestly, I’ve written this post 100 times in my head, trying to decide what to share, if anything, and how to share it. Ultimately, I decided that I wanted to share our story because this high-risk pregnancy journey has been pretty lonely at times and we could have used the support of another family that went through something similar. My hope is that maybe we’ll be that family for someone else.
So here it goes…
Behind the smiles + excitement about our impending little bundle of joy, there have been months of tests, doctors, stress and sleepless nights. At 20 weeks, we went in for a very routine checkup and anatomy scan. We were prepared to find out the baby’s sex that day and come home to celebrate the news with our family. What happened instead was being rushed into the perinatal specialist’s office for hours – then walking out with heads spinning + 1,000 questions.
During the routine ultrasound at the OB’s office, the sonographer spotted something just a smidge off. No one seemed too concerned, but she said she needed a second set of eyes because the baby wasn’t being totally cooperative and was just moving around too much. They kept the mood light + airy, only saying that they were going to refer us to the specialist across the hall because they had better equipment in order to get the measurements we needed. Okay, no big deal. They were going to make the calls and said that usually the specialist can get us in within a week or so. Again, no one seemed concerned.
The nurse came back in to say the perinatologist could get us in that afternoon. We showed up for what we thought was another routine ultrasound. That turned into a 3-hour appointment. It was explained to us that they were concerned the baby might have an issue with the adrenal glands and its body was not making cortisol, the stress hormone. They wanted to do an amniocentesis first thing the next morning to try to confirm the diagnosis. Cortisol helps regulate sugar levels, blood pressure, salt waste, and a host of other functions to help the body regulate itself – especially in times of stress. They wanted to make sure there was nothing else going on that we weren’t aware of, even though all of our other tests had come back clear at that point.
So I had the amnio the next morning. I think I cried through most of it, but it went perfectly. I was sent home with instructions to try to rest and wait for test results in 7-14 days.
Longest. Wait. Ever.
We tried to research + educate ourselves as much as we could during that time. We tried not to stress…however, that part proved easier said than done.
We got a call the following week from another doctor in the practice and he calmly explained that we were still waiting on the adrenal/hormone imbalance results, but in the meantime they picked up a “gene deletion” on chromosome 15. It was a relatively small deletion of 20 genes and it was labeled “undetermined significance” because they weren’t sure exactly what it meant.
This is when we got a crash course in genetics. For those of you not familiar (don’t worry, we weren’t either until a few months ago), there are about 25,000 genes in human DNA but apparently only about 5,000 have been identified (meaning that we understand the gene’s function or responsibility). That leaves a lot of room for unanswered questions for families like us. Out of the 20 genes the baby is missing on chromosome 15, only 2 have been identified…and they are both associated with pretty terrible diseases. They are very rare diseases, and while the chances that our baby has one of them is very slim, it’s still terrifying to hear the possibilities.
We came to find out later that the genetics lab has never seen this exact deletion sequence before. In other words…they literally could not find one other documented case in any literature or from any other lab. The next step was to do parental genetic screening to see if Jeff or I have the same deletion. If we did, they wouldn’t be worried because we are “normal” healthy adults. If we didn’t have the same deletion, they still didn’t know what it meant and we’d start digging for answers. We had the bloodwork done and had to wait another week for the results.
Neither one of us have the same deletion, so back to the drawing board.
In the midst of all of this, we were referred to an entire multi-disciplinary team at Children’s Hospital to look at our case. Thankfully we live within 30 minutes of one of the best Children’s Hospitals in the country with an amazing genetics department. We knew we were in good hands.
Our team included the perinatologist we had been working with the last few weeks, a neonatologist, a pediatric surgeon, a pediatric cardiologist, a pediatric endocrinologist, a geneticist, a genetic counselor…the list goes on and on. I had a fetal MRI, fetal echocardiogram and additional ultrasounds to rule out any other major issues. We passed all of those tests with flying colors, thankfully! We met with the genetic counselor several times to discuss our options and try to figure out how to move forward with very limited information. During these weeks, the words “interrupt the pregnancy” were mentioned several times. We were informed that we were up against a clock to get information and make any necessary decisions. It was gut-wrenching.
After all the test results came back, we were basically left in a murky gray area. All the doctors + specialists couldn’t really tell us definitively what, if anything, baby has, but they also couldn’t rule some of the options out. We were told we could pursue additional expensive genetic tests, however, it was likely that we would probably be left in the same gray area. The doctors tried to gather as much information prenatally as possible, but at the end of the day they really need to wait until the baby is born in order to do more direct genetic testing. We’ve been warned though that even the additional testing once the baby is born might not tell us anything definitive. So after many sleepless nights and heartbreaking conversations, we opted out of additional prenatal genetic tests and to just wait until the baby is born.
Since being diagnosed with a “high-risk pregnancy” at 20 weeks, we’ve been going to the perinatologist every 4 weeks for check-ups and growth scans. Baby has been growing right on track, which is a huge relief!! At the last check up, baby is in the 60%. And now we continue to wait. 2.5 more weeks (or less) until the big arrival. I am anxious because I don’t know what to expect but I know we are in good hands. We will deliver the baby at Children’s Hospital with our amazing team of doctors and specialists ready to swoop in.
We cried a lot during those initial weeks, but I’ve tried to enjoy the remainder of this pregnancy as much as I could. Truth be told, it’s been really hard. I’m filled with anxiety before each appointment. There’s a part of me that is always waiting for the other shoe to drop. It has been the scariest, most stressful time of our entire lives. Only a small circle of family + friends knew what we were going through, but we are extremely lucky because they have been nothing short of amazing. There for us every step of the way, in ways both big + small.
I truly believe things happen for a reason, and I know ultimately there is a reason we’ve gone through all of this.
This baby has taught us so many lessons about life + love already. I’ve certainly had my moments of complete breakdown, but through all of this I’ve found a quiet strength that I didn’t know was there. I HAD to be strong for my family — there was no other choice. Jeff + I have had to lean on each other in ways we never imagined, which has brought us even closer together. He has been the rock for our family. And we hug Everett extra tight every night with a new appreciation of how fragile it really can all be.
No matter how scary this has all been and no matter what happens from here, I know this baby is loved like crazy. We’ll handle whatever comes our way… one day at a time.
We love you + can’t wait to meet you, little one.