Summer of 2020 I had what was originally thought to be a miscarriage. After some blood tests, we were sent for a ultra sound where we found out it was not an MC, but rather twins! Because of our scare and my “advanced maternal age ” and the fact that my OB is a wonderful woman, she sent me for another early ultra sound, because I needed the reassurance that things were okay. At this ultra sound they found a cystic hygroma on the neck of Baby A.
I remember fielding that phone call after work one day, frantically googling what a cystic hygroma was and what it could mean. My OB told me it could range in severity from meaning nothing to something very serious and she needed to transfer my care immediately to a fetal/maternal specialist.
Very quickly we learned that not only did Baby A have a cystic hygroma, but also 2 fairly severe heart defects- AVSD and TofF. These heart defects would require heart surgery days to months after birth. We would need to travel to Edmonton and have this surgery completed at Stollery Childress hospital. The combination of these two conditions made the specialists fairly confident that there was a genetic abnormality in Baby A, and recommended an amniocentesis to confirm what they suspected.
Because of the type of twins they are (separate sac, separate placenta) we were basically told that what they suspected in Baby A was not going to be the case for Baby B, so we didn’t test Baby B because there was no reason to.
Genetics called us within a few days and confirmed that Baby A had Trisomy-21 (Down Syndrome). Once you receive an in utero diagnosis, your appts suddenly triple(we were in for full fetal anatomy scans every two weeks, normally you get 2-3 of those for the whole pregnancy) and your “team” balloons to include people who you never knew existed.
We were suddenly surrounded by fetal health specialists and pediatric cardiologists and geneticists and social workers and cardio care nurses and specialized ultra sound technicians. They were all ready to work with us and for these babies. With a new, overwhelming large team in place, goals were made. Full term with twins is considered 38 weeks, not 40. It was considered unlikely we could get there, but cardiology wanted us to make it to 36 weeks so that Jennifer was as big and strong as possible before birth. They were hopeful she could wait a few months until she required heart surgery but it was possible we would be airlifted out to Edmonton immediately. Everyone seemed confident I/ we could make it to 36weeks.
We semi- confidently worked our way slowly through the next few months. Still going for endless anatomy scans and getting well acquainted with the hospital staff, but things were going well. We made some tentative delivery plans (options a,b,c and d ). We made it to Christmas break, and the team decided to pull me from work, despite not being due until March 30. Some of it was Covid related, and we were starting to have concerns with Baby Bs growth. This was unusual, as our whole pregnancy had focused around Jennifer (Baby A). We usually just did a quick check on Joe, and moved on. But his growth had slowed. By January we were going in every 3 days to have an NST, where they monitored Joe’s heart rate and movement for half an hr. We kept passing all the requirements and being sent home. At this time they kept asking me to do kick counts for Joe. Every pregnant lady is familiar with these, but it is a whole other situation to try and determine which twin is kicking when. The stress was high by now, I was constantly worried that Joe wasn’t moving enough and I was only feeling Jennifer.
February 17, at exactly 34 weeks, things rapidly changed. We went in around 1pm for our NST. The nurses monitored us, didn’t like what they saw, had me get up and move to “wake him up”and set up the monitors again. At this time Dr. Martel popped in and started discussing booking a c-section date/delivery date, which was a back up as they were hoping to induce me for vaginal labour. Remember that magical 36week mark??
10mins later(230ish) she was back and said that she didn’t like what she was seeing from Joe and we needed to deliver now. And that he was already struggling so much that he wouldn’t survive vaginal birth so we needed a c-section. In an absolute whirlwind, with people actually running down hallways, they assembled 2 maternal/fetal health specialist (dr Martel and her co-head of the department), 2 nicu teams and the pediatric cardiology team. There were also 6 nurses and an Anesthesiologist.
Within the hr of Dr. Martel deciding it was happening, these two babies were born. They were born 1 minute apart (so they say. It seemed even quicker to me). Joseph was just over 2lbs and Jennifer was just over 3lbs.
Dad got to sit up by my head and could kind of see the babies as they were each taken to their NICU teams. Both babies were given some oxygen, intubated and assessed. They were briefly brought over to us to see them and touch their faces and then returned to their medical teams.
At this point, Dad got to go upstairs with the twins, and I had to continue surgery. I don’t really remember much of the closure, or recovery. I know I was brought into a recovery room where the monitored me and assessed my freezing levels. Then I was brought back to a room on the maternity ward. I’m not sure how long I waited to see the twins . Dad texted me pictures and updates as often as he could.
During this recovery time for me, the intake Dr. pulled Dad aside and told him that Joe was also displaying indicators of DS. On top of all the other turmoil of the day, this came as quite a blow. We were mentally prepared for Jennifer’s diagnosis. We were not prepared for this, as we were told it was not a possibility. Or so rare that we didn’t need to worry about it.
It took a week to get Joes diagnosis confirmed. And even though we already knew, that was a hard night. Our nurse that night was a wonderful soul who gave us space to grieve and love those babies. Diagnosis like these are not the end of the world. We know this. But you do have to process the loss of what you expected and prepare for something new and unknown.
It may have taken a week to get Joes diagnosis, but it took seconds to fall in love with these two. To know them is to feel joy, and to love them is an honour.
Joseph spent 56 days in NICU, fighting some mysterious platelet/blood issues that eventually resolved themselves and growing bigger and stronger. Jennifer spent 82 days in NICU, on constant oxygen support, growing stronger and reaching the magical 5kg mark they wanted for her heart surgery. She got to come home in May, on minimal oxygen support and grow bigger and stronger surrounded by her family.
Jennifer has a complete AVSD, which (simplistically) means there is a large hole in the centre of her heart which allows blood to flow between all four “chambers” as they are not properly closed/formed. Essentially, her blood flows where it should not go, and can be less oxygenated. The excess blood flow can go to her lungs, which makes both her lungs and heart work overtime. Jennifer also has tetralogy of fallot, which is really a combination of 4 heart defects. Again, these heart defects change the way the blood flows to the lungs and through her heart.
We were warned that Jennifer could be blue, and would suffer from “tet spells”. Thankfully, neither of these was the case and the more we learned about these defects the more we we impressed with her contented demeanour and her physical gains. In a good news/bad news situation, her heart defects actually counteracted each other somewhat and helped her to stay home with us on minimal oxygen. This girl is an undeniable warrior.
On August 5th we packed up the twins and headed to Edmonton, leaving our two older girls with family . A 5 hr surgery and 9 day recovery later and Jennifer’s heart is fully repaired with only a small chance on a minor future surgery.
The rest of the journey is a mystery. Down syndrome will not chose the path we take, but will be a part of our lives. And I am more than okay with that.