Our baby girl, due on March 7th, will need to be delivered sooner (fingers crossed for a leap year baby!) as there will be a need for immediate surgery to correct a congenital abnormality. We are cautiously optimistic for a full recovery, should all go well from here on in, but there are still a lot of uncertainties that await us and our baby – even after birth.
I know what you are thinking: “A baby?! A girl?! Wait, what?! For real?! That means you are 22wks, Angela! YAY!! Wait, you are only telling us now?! You are just over half way through your pregnancy! Oh, wait, surgery?! C-section?! Ummm, hold up, what?! But a GIRL!!” I know, it was a fully loaded and heavy first paragraph. With all the unknowns we were facing, we had decided to keep the pregnancy and details of the pregnancy off of social media, and only let a few folk outside our immediate family know what was happening – but only until we had more information from the high-risk team that we have been assigned to. It was so difficult to not only have no answers for us, let alone trying to explain things to others when we had no idea ourselves.
So, let’s begin:
August 27 was the day that we took possession of our new house, and we also had the regular 12 week ultrasound booked for first thing in the morning. We were looking forward to seeing the progression of the baby, getting a cute photo for our fridge and then taking the next five days to move from our old house to our new house. Unfortunately, we figured something was up when the ultrasound technician left the room at the end and came back with the clinic’s doctor, who gave us some devastating news that put us in a tailspin for weeks to come: the ultrasound revealed that our baby has a defect called an omphalocele.
The doctors explained to us that an omphalocele is like that of a hernia that occurs around the 10 week mark and can be fatal. At this point in development with all babies, all the cells that form the abdominal organs are technically outside in the umbilical cord, but then, as construction continues, the contents are pulled & formed into the abdomen. In a normal pregnancy the abdominal wall closes as the organs enter the abdomen cavity, and the opening that remains is the connection to the umbilical cord. With an omphalocele baby, some of the organs stay outside before the abdominal wall closes. Like I said, the omphalocele itself is like a hernia sac, but instead of the abdomen contents already inside and then going out with the skin holding things in, the contents were never ‘in’ and so they are being held in by a very thin membrane sac. This can be fatal (either before or after birth) depending on where the ‘sac’ is located (closer to the diaphragm is very bad) and depending on what is actually inside the the sac can cause cause serious and chronic issues for the baby all through it’s life. Or worse.
After receiving a fairly pessimistic view from the ultrasound clinic’s doctor, my regular GP told us to stay off the internet, try to relax, and go for our scheduled first meeting with our obstetrician in a couple of days. Easier said than done! When we met the obstetrician, he seemed much more upbeat: he didn’t think that the sac was large enough to pose a serious issue. Still, he sent us to the Genetics department at CHEO for a blood test known as the NIPT (non invasive prenatal test) to determine if there are are any chromosomal issues. Usually when there is an omphalocele, there are other genetic issues. The NIPT is a great alternative to an amnio, but more on that later.
When we arrived at CHEO, the genetics counselors–who were beyond excellent–explained to us that omphalocele is often accompanied by other chromosomal issues such as Trisomy 18 (Edward syndrome) and Trisomy 13 (Patau syndrome). The NIPT tests for these issues, as well as Down’s Syndrome and extra or missing X and Y chromosomes. We so were hopeful that they would draw the blood and analyze it right on the spot, but we were crushed to learn that they would need to send the sample to California for analysis–so we were consigned to another 10 to 14 days of uncertainty and worry.
The genetics team called me during week 15 as I was leaving work and said that according to the NIPT we are in the clear for major genetics issues. This was a HUGE hurdle we needed to overcome, but of course, we were not fully out of the woods. Our next step was to wait for more development to occur and the level 2 ultrasound during week 18, which would provide more clues about the extent of the omphalocele.
Still hesitant to tell anyone outside of our immediate family and some close friends that we were expecting, we continued to think positive thoughts and went on about our days with the same excitement we had from the moment the pee hit the stick. Then we had our level 2 ultrasound at week 18 and the anger, confusion and worry came flooding back. The clinic doctor told us that the omphalocele was much larger than they’d like it to be, and that even though everything else looked good with the baby, we were immediately referred to the high-risk pregnancy team at the Ottawa General Hospital for more in-depth ultrasound testing. I had a really difficult time with things after the initial week 12 ultrasound, but even more so following the level 2 ultrasound as we were so hopeful wouldn’t be as large and serious as it seemed to be.
Our appointment with the high-risk pregnancy clinic was that same week – on the Friday just before Thanksgiving. I had another ultrasound with a more advanced unit that could do 3D imaging. The ultrasound lasted for about an hour, after which we were taken to a consult room where we waited to meet the medical team. Lots of tears were shed on my part in anticipation of the worst. We met with two doctors and an RN (she will work primarily with us from here on in for anything we need), who told us that the omphalocele is fairly large but is not, in their words, gigantic. Literally, that’s the medical term for classification. Gigantic. From reading the ultrasound they felt that the omphalocele is limited to the liver. They told us that they have experience and a high success rate with omphalocele babies, and that our baby’s issue is, in their opinion, repairable. They were careful to say that they couldn’t guarantee a full 100% that we would have a positive outcome, but they are very hopeful. This was welcome news that effectively uncancelled Thanksgiving for us, but more importantly has given us new hope for our baby.
The high-risk team at the General have been working hard to book us through a flurry of additional tests: I had an amniocentesis on the Tuesday morning after Thanksgiving (so not fun) and we had a regular ultrasound the week after that. Then, last week I had a lengthy heart echo for the baby and an even longer than normal MRI. From this point forward are now being cared for exclusively by the high-risk clinic at the General.
Like I said, she will be delivered early via c-section at the General. The c-section is necessary as it will limit any damage to the omphalocele sac upon delivery. We are cautiously optimistic that she will fully recover, but she will need to spend several weeks in the hospital at CHEO after birth. Our little girl’s road will be a bit busy over the next several months, but the amazing staff at both CHEO and the General have given us so much comfort and hope. Our wee girl will be in the best care possible and we can’t wait until we can finally bring our little baby home.
We want to take this moment to thank all our family and friends – not only do we appreciate all of you, but we are SO very happy to have universal health care, plus an amazing team looking after us on this crazy journey!