The Hardest Thing I
Have Ever Had To Do
Diagnosis: Trisomy 21 and
Unbalanced Atrioventricular Septal Defect
By Kalila's Mom
It all started in June of 2013. After having just over a year with our healthy first-born son, we decided to try to add a second baby to our family. After just two months of trying, a pregnancy test at a doctor’s appointment confirmed that I was pregnant. My husband and I were ecstatic. We slowly began to make plans, tell people, and celebrate how wonderful everything turned out for us. It was all going according to plan.
The initial appointment with the doctor where I could hear the heart beat should have been the first sign that something was wrong. She began to ask me questions about twins in the family and if I thought that I was possibly showing earlier than in my previous pregnancy. She sent me for an early ultrasound saying that she heard a flutter in the heartbeat and thought that maybe we were having twins, since I was looking pregnant much sooner than before. I didn't think too much of it at the time other than “Oh my, two! How would I handle two at once?” My husband came with me to this ultrasound thinking that we would just come home with the news that we were having two instead of one. At the ultrasound, we found out that this was not the case, and, in fact, there was only one baby. We were a bit dumbfounded because we expected just to confirm the doctor’s suspicions, but again we didn’t think twice about it.
Next came the decision on whether or not to have an amniocentesis that detects abnormalities such as Down syndrome (Trisomy 21) as well as Trisomy 18 and Trisomy 13, which are very lethal chromosomal abnormalities. The doctor asked if I would like to have the amniocentesis, but since my chances of carrying a baby with a chromosomal abnormality were low because we were young and had already had a healthy boy at home, with the risk of miscarriage, I decided against the test.
I continued going to all my doctor appointments, tests, and at the 20 week standard ultrasound, we found out we were having a healthy baby girl. I instantly could not wipe the grin from my face. This was it. I was getting my little baby girl! I began to think about all the “girly” things she and I would do together; getting to do her hair and having all the girl talks. I was so excited, and my husband was very happy to have a daddy’s little girl on the way.
The pregnancy continued normally, and so did day to day life. I continued with the doctor's care, and my belly was growing every day. When I went into my doctor for another monthly check up after my 20-week ultrasound,
we sat, listened to the heart, were told that everything looked good on the ultrasound, and were asked if I had any questions. I gathered all my paperwork after this appointment since I was halfway through my pregnancy, and I would be switching to my obstetrician, the doctor who would look after the rest of my pregnancy and deliver our baby.
I went to my obstetrician on December 19, 2013. I remember this day very clearly because this was the day that I first learned that something was wrong with our baby. I met with her, showed her all the papers, listened with her to the heart beat, and was getting ready to leave when she told me that on the 20-week ultrasound, she had seen that the baby's right kidney appeared to be measuring larger than normal. It was supposed to be measuring at 5mm, and it was measuring 9mm. Immediately emotions began to run through my head. If I could go back to this moment, I would try not to panic instantly. I would have asked all the questions then, but instead I would not get answers to for many weeks due to the Christmas holiday.
The doctor said this measurement could mean anything from a simple blockage in the baby’s tube to a more complex issue with the kidney, but she tried to reassure me that people can live with one kidney, and everything else looked good. I asked what this meant for possible options with whatever we find in regard to the kidney. She said that worst-case scenario would be to take the baby out early and do surgery on the baby’s kidney, and best-case scenario would be that it would be monitored and after birth, and it would more than likely fix itself.
She put an urgent request in for a level-3 ultrasound at a perinatal clinic that could get a better look at the baby's organs. At this point, I was 26 weeks pregnant. My initial reaction was anger. Why didn’t I know of this much sooner? Why hadn’t my family doctor caught this? Why was I finding out six weeks after this was detected when I went to all my appointments and was already told everything looked good on my ultrasound? I managed to get myself to the car where I broke down in tears and got a hold of my husband at work to share the bad news. He remained calm and told me to try not to worry about it until we could get in for this level-3 ultrasound and we knew for sure something was wrong.
My son and I tried to continue with our day the best we could, but I needed answers; I needed to talk to my family doctor. On my way home, I stopped at her office to try to get the answers I so desperately needed. She was not in, so I left a message for her to call me as soon as she was. I needed to speak with her in about my ultrasound. That evening was tough. I wrote down what I would say to her and began trying to think what went wrong.
The next day I received a phone call from the doctor. I explained what my obstetrician had found and asked why I had not known of this sooner. Although it must have been hard for her to say, I did appreciate how honest she was with me. She said that it was, in fact, her fault. When she received the ultrasound, she could only read one of the two pages sent to her and skimmed over the first page. Since she did not see any red flags, she did not bother to get the second page of the ultrasound, which was the page that had the information about the kidney. She explained that this incident made her realize she needs to slow down with her work, and she apologized repeatedly about how sorry she was. I accepted her apology knowing there was no other option; my staying mad at her would not change what we now knew.
After many phone calls and what seemed like forever, I was unable to get an appointment before the upcoming Christmas holidays for the level-3 ultrasound. Two days later, I got a call stating that the soonest we would be able to get in would be January 9, 2014. The pediatric urologist, a kidney specialist, would not be back until then, and we would need to meet with her right after the ultrasound to discuss the findings. I emailed another hospital in the area that also had a urologist on staff to try to get in with them sooner but never received any word back. So we waited and tried to make the best of Christmas with our son.
The morning of the appointment, I was very nervous but also very anxious to get in there and find out what we needed to know. We sat in the waiting room for over an hour, not an easy task when asked to fill your bladder a half-hour before your appointment. Finally, we went in. This ultrasound was so different from the others we had experienced so far. There was a big-screen TV above us that allowed us to view everything the ultrasound tech was seeing and doing. It was so amazing to watch. My husband caught the initial signs right away of a more serious problem. I was too naive to notice what was happening all around me. The tech talked to us as if nothing was really wrong and spent a large amount of time looking and studying the heart in comparison to the kidneys, which was the reason we were there.
Everything slowly started to unravel; it began to go from bad to worse. The tech left the room to go track down the urologist and specialist/professor in maternal-fetal medicine. When they came in, it all became a blur. The professor informed us that they had found something wrong with the baby’s heart and that we would need to go upstairs that afternoon for a fetal echo ultrasound to take an even closer look. We tried to get an explanation but the most they could say at this point was that it looked to them as if the valves of the heart had developed backwards, and there was a possible hole in the middle of the heart. We did not know what this meant, but we knew it was bad. We had an attendant walk us to where we needed to go for the next test, where we received more bad news.
This ultrasound was the longest one so far, yet I felt like time stood still. We had an ultrasound tech look at the heart for what seemed like forever, and we were very uncomfortable with the tech. She was not very understanding, did not know our story, judged us, and did not seem to know what she was doing. We were there for 45 minutes with no answers when the cardiologist on shift came in and asked to take more pictures. We went through another full ultrasound with him studying our little baby’s heart. Another 45 minutes went by, and I was finally allowed to sit up and clean myself off. He escorted us to a private room where he said he would draw a picture to explain it better and would be back shortly.
He came in with a picture and began to explain to us what he had just seen on the baby’s heart. Our baby had several heart complications that were severe and would need multiple heart surgeries to try to help the baby survive. Just when we began to understand that our baby had unbalanced atrioventricular septal defect, where one side of the baby’s heart was much smaller than the other, we had another hurdle thrown at us. We begin to think that this was going to be a very tough go, with doctors telling us that we would now have to deliver at this hospital. The baby would have a rough time and would be in intensive care for quite a while.
It got even worse. The cardiologist sent us back downstairs where we met with a genetic counselor and the professor from earlier to find out more. They informed us that with this kind of a heart condition often goes hand in hand with Trisomy 21, which increased our odds of having a Down syndrome baby up to 30-40%. They continued to tell us that if, in fact, the baby did have DS with this type of heart condition, the odds for the baby were not good. They would not do more than the initial surgery since babies with DS do not do well with such a poor functioning heart.
We began to discuss our options, everything from getting an amniocentesis, which is illegal to have done after 22 weeks, but they would make an exception in our case to find out for sure if there was a chromosomal abnormality. It could have been Trisomy 21 or one of the lethal ones: Trisomy 18 or Trisomy 13. Alternatively, they could do the single surgery to try to prolong life of the baby, or we could go out of the country to terminate the pregnancy, since it is illegal in Canada after 22 weeks to terminate a pregnancy unless it is stated as fatal. We had so many things to think about in such a short amount of time. We had a choice to make that felt so unacceptable. In the end after much discussion, my husband and I decided to go home and return the next day for the amniocentesis because we had to know exactly what was wrong.
We went in for the amnio on Friday, January 10 and returned home to wait until Wednesday for the initial results and make our decision from there. We already knew that we would continue the pregnancy and help our baby girl get through these heart surgeries if she had no chromosomal abnormalities. If she did have something else wrong, we did not know what to do from there. There were many tears shed the next several days, and my husband and I went through so many emotions as we tried to wrap our heads around all we had been told over the past few days.
I received a phone call on Tuesday, January 14 when I was given the news that the baby did, in fact, have Trisomy 21 (Down syndrome), and we would need to come in to meet with another cardiologist as there were more changes. My husband and I contemplated that evening on what we were going to do and what types of decisions we were going to have to make for our baby.
On Wednesday, January 15 at noon, we met with the pediatric cardiologist. Other doctors said she wrote the book on the heart, so I figured she knew what she was doing. The specialist from the maternal ward who had been in all the meetings with us was there as well. The next half hour seemed pointless. The cardiologist used very technical terms, so we did not understand most of what she was saying. The only information my husband and I could understand from the meeting was that a baby with these heart complications without DS is a very tough and tricky case, and putting DS on top of it, they gave our baby a 1% survival rate.
They gave us a few options: we could decide to wait out the remainder of the pregnancy and do the pulmonary band surgery at birth, which would help to prolong the life of the baby up to a maximum of one year. On the other hand, we could have the baby in nine weeks with a C-section and only do comfort care. We would just have to walk on pins and needles and ultimately wait and see when the baby died. We could possibly be bringing her home with us only to wait for however long we would have with her. Either way, the outcome looked very poor, and our odds were not good. Our third option was to terminate the pregnancy and begin the grieving process now.
My husband and I returned home filled with a ton of emotion: anger, hurt, and suffering. We did not know what to do or what the answer was. We were told to put our trust into all of these doctors and people whom we had just met, and we did not have much time to cope and make our decision. The hospital was already breaking rules by doing all this since I was now 30 weeks along. How could this be happening to us? Why did we deserve this? We did everything right: we went to every appointment, took every precaution, and I did everything a pregnant woman is supposed to do from eating properly to not smoking or drinking during the pregnancy.
So what did we know? We knew the baby had several kidney issues, complex multiple heart complications, and on top of all of this, Down syndrome. My husband and I now had a very difficult decision to make. Should we continue for the next nine weeks of pregnancy knowing that the baby would die and put us through another nine weeks of torture to introduce her to our son and others around us to bring her home and watch her die? Would we let her suffer just to get a bit of time with her, unsure of how much time there would be? Could we decide to terminate the pregnancy but have to live with that on us for the rest of our lives? I have to say that there is no right or easy answer in any of this. This choice is very gray, as opposed to black and white. How do you decide to end the life of the one you created? How do you continue, knowing that you will put your baby through unnecessary suffering and pain when the outcome is so poor? It was a very back and forth evening.
My husband and I decided to terminate the pregnancy. It sounds so awful as I type this out, since I am the one who allowed them to take my baby away from me. I could not possibly go through another nine weeks of knowing everything and trying to get through another C-section, of living in constant fear of my baby dying at any time, or introducing her to everybody around us for them to have to say goodbye to her as well. I can’t imagine the pain she would have to feel if we continued on with the pregnancy, to die while struggling to live would be horrible for her.
On Friday, January 17, my husband and I drove back to the hospital. I have to say it became the most horrible place I have ever been. I associated the whole place with pain, anger, and very bad, dark thoughts. We arrived at the hospital at 11:30 am and waited until an ultrasound room was available. This was the ultimate lowest hour of my life; I never ever want to go back to that time or place. I did not listen or watch what they were doing.
All I knew was this hour was when Kailia was taken from her dad and me, and I just remember wanting to go with you. After we lost you, we were taken upstairs to labor and delivery. I could not eat, walk, or even think; I didn’t want to.
Once we were put into our private room upstairs at 12:30, the day went by very slowly, and we seemed to get lost in the mix of things. Sure we had a nurse come and go once an hour or so to keep us semi-informed of what was going on, but that was all we saw up until 5:30 pm. I went out into the hall to track down the nurse and get to the bottom of what the hold-up was. It was hard enough already, yet here I was sitting in a room for five hours with absolutely nobody helping us and nothing happening. We felt very alone and abandoned.
I found out that the doctor on call for that day had a discrepancy with the doctor downstairs who performed the procedure earlier. In other words, there was a personality conflict. He was not willing to take me on as a patient because he had not let the previous doctor know I was coming up, and according to them, I was a high-risk patient since I had a C-section from the birth of our son and was now doing a vaginal delivery. It added complications and risks to my delivery.
So, I waited until 6:00 pm for the doctor from downstairs to come up and begin the process of getting me ready for the delivery. He put in a folio as they all called it, as well as medicine to try to get things started. It put pressure on the cervix to begin to soften it, and when the procedure was complete, it meant I was 3-4 cm dilated, and could now begin an IV and medication to induce labor.
The next few hours progressed slowly, with just some mild cramping on and off. At 10:00 pm my husband and I went for a long walk around the hospital. When we got back to the room, the cramping began to get progressively worse, and contractions began. I received a shot of morphine, as they wanted to postpone the epidural for as long as possible since you cannot move around after you receive an epidural.
It took 20 minutes for the morphine to kick in, and that seemed to help with the pain and contractions for a couple of hours. At around 12:30 am on Saturday, the morphine wore off and the pain/contractions were very bad again, so they gave me another shot of morphine, followed by an IV with the same medication used in an epidural to try to help the pain. At around 1:30 am, I was given an epidural and was very unaware of what was going on; I was in rough shape. As soon as I received the epidural and laid down the folio fell out, and the doctor came in to check my cervix and said I was fully dilated. She broke my water at 2:15 am and had to leave to go and do an emergency c-section. However, the nurse stayed with us. She said I could try to start pushing, but she said it would take a half-hour to an hour to push the baby out, and that she would be back by then.
I began to push with the contractions at 2:30 am, and Kalila was born at 2:46 am. I made the decision after Kalila was born to have the nurse describe her to me and decided that I did, in fact, want to meet and hold her. I was very scared but was glad I did get to meet her, because I think I always would have wondered what she looked like. She had a full head of gorgeous blonde hair, a very tiny nose (that my husband and I agreed looked like our son's little nose), and she was so perfect in our eyes. The nurse did say that she could detect the Trisomy 21 features in our baby’s ears and eyes.
My husband and I both held her and talked to her. We told her how much we loved her and how sorry we were for her. After they removed her from our room, the doctor came in to check me over and told me that I ripped and had three stitches put in order to help with the healing. We both fell asleep from exhaustion and the overwhelming experiences of the day. We woke at 6:30 am and were moved down to the postpartum ward where they would watch and keep an eye on me for the day. We spent a good part of the morning trying to get a bit of sleep. We left the hospital at 2:30 pm on Saturday, January 18 and had the nurse bring Kalila to us one last time for a final goodbye. Leaving the hospital, my legs felt as if I was going to collapse. This was not how this was supposed to happen. She was supposed to be coming home with us. I felt very empty and broken.
We went to the funeral home to make arrangements for our daughter whom we had just met 12 hours before. It felt so wrong, but I wanted to ensure that she would be carefully and respectfully looked after and needed to get the process started as soon as possible so I could get her ashes home to us. We made arrangements for Kalila to be cremated and chose a very special, engraved urn that we would pick up and bring our daughter home in.
It was never supposed to happen like this. She was supposed to be healthy and happy, and we were supposed to carry her out with us. Now we are home, and the healing process has barely even begun. We both felt very empty and sad and missed her so much. Our son was kissing my belly and pointing to my belly as he usually does. We both tried to sit and tell him no more baby, baby's gone, baby had a bad heart, but he refused to listen to what we were saying and carried on. I am scared that this is going to be a long process of reminding him that no, there is no more baby.
Being at home is so much harder than I could have imagined. It’s all torture. You return home with sore, engorged breasts, a pregnant-looking stomach, and the hurt and pain from a delivery with empty arms. I can’t stand to look at myself in the mirror; it's all only hurtful reminders that Kalila is no longer with me. The days just seem to be blurring together. The hours seem to be passing by, and people keep telling me that time will make it better.
It is pretty hard to see the future when the pain is so severe right now I can’t handle much. I don’t want to go anywhere, talk or see anybody, or do anything. I feel as though the things people say are going to bother me or make me mad or upset. They do not understand, and they never will. I hurt so much and feel like a big part of me is now gone. I do not know how long it is going to take to get some happiness out of life again, but I do pray that it will again happen.
Kalila did not ask for any of this, and the choice was made with her best interest at heart, knowing that any amount of time spent in the world she would be struggling. It is not fair, but in the end, I would rather do all the suffering for her so she would not have to feel any pain or suffering herself.
My husband and I love her so much and did not ever think we would be forced to have to make this decision; nobody should have to. We do not know how we are going to carry on from here or what the future looks like. I just pray that it will get easier, and I pray for forgiveness from my little baby angel, for my husband and for myself, because right now I feel selfish for being the one to choose to end her life. Goodbye, my angel. I loved you from the first moment I knew about you, and I will always love you, and I will never forget you. You are forever in my heart, and I will keep you safe at home with us eternally.
Kalila, I miss you so much, my beautiful, perfect little angel. I am very sorry for everything. I wish that I could have changed many things. One day I will be with you again, but until then you are always in my heart, and I will carry you with me forever.