Sisterhood of Angel Mama’s Magazine | Pregnancy & Infant Loss Awareness Edition October 2021
Jasmine Grace: CDH & Mosaic Trisomy 15
Written & Photo by Sarah Cox
We found out that we were pregnant with Jasmine a few months after a failed fertility treatment. We had done a treatment that was successful, but then ended in miscarriage. My HCG levels were falling, but then started rising again, so I had to take a shot of methotrexate. This meant we had to wait at least three months before trying again. I found out I was pregnant with her a couple of months after the waiting period was over.
I went to my RE for beta levels and everything was rising and doubling perfectly. All my early ultrasounds with him looked great and she was growing normally and right on track. I had my first appointment with my OB and everything looked fine on that end as well.
It came time to do the NT scan and genetic testing. They no longer did the NT scan in their office and they referred me out to an MFM to get it done. We went to the appointment and the tech did the scan. She showed us the things we were looking at and we were able to see some really cool 3D shots, even at that early of a gestation. The doctor then came in to her look as well. She started with an abdominal scan and said they needed to switch to an internal ultrasound in order to get a better look. At this point, I was getting a little worried because I know this isn’t a normal protocol.
The doctor kept looking and I was getting increasingly worried. Finally, she told us that she thought we were looking at a congenital diaphragmatic hernia. This meant that there was a hole in the diaphragm and some of her organs had moved up into the chest cavity. It was hard to tell what all had moved up there. I was only 13 weeks and she wanted us to come back in two weeks to confirm the diagnosis.
At this appointment, she also wrote down the sex for me to take home and open with my husband. It was so hard to get excited over this because of the bad news we had received. We did open it and found out that we’re having a girl. I wanted to name her as soon as possible. I actually dreamed about the name Jasmine and that is how we came up with it. We chose Grace as her middle name.
I left feeling confused because I had never even heard of CDH and thought that surely, she must be wrong. I went home and researched the condition and also researched how often ultrasounds could be wrong/misread. During the next couple of weeks, I convinced myself that surely it had been a mistake and that we would go back and they would say everything looked fine.
CDH DIAGNOSIS CONFIRMED
I went in again at 15 weeks and, unfortunately, the CDH diagnosis was confirmed. We were pretty devastated. The MFM presented it as a very serious condition and one in which we might want to consider comfort care. We had the option to terminate the pregnancy as well, but I in no way wanted to do that. I wanted to give her every fighting chance I could. I mean this MFM had only ever seen 2 cases of CDH and so I wanted to prove her wrong.
With CDH, there can often be other chromosome issues along with it, so they asked if I wanted to get an amnio done. I declined because I did not want to take the risk and it wouldn’t change my approach to the pregnancy at all.
I basically had very little information about the condition. Just that it could affect kids differently and that they could come home with a feeding tube or have a variety of issues. I saw that I would have to go to a hospital equipped to deliver her because of the chance she would have to go on ECMO.
MEETING WITH THE SPECIALIST
I did a lot of research and joined some Facebook groups and many people pointed me to a doctor in Florida. Well if he was one of the best, I definitely wanted to be seen by him. I contacted them and we got a few appointments set for December 2017. I needed to do a fetal MRI, an echo, meet with an MFM there, and meet with the doctor himself.
Since we were going to be there right after Christmas, we made a Christmas holiday of it and my mom and brother tagged along. That way we wouldn’t have to leave N over Christmas either.
After the first three appointments, the final one was with the doctor. He got to know us a little bit and talked about what the treatment plan could look like. Basically, a lot would not be known until she was born and they saw what kind of condition she was in and if she could breathe on her own at all. I thought everything went great and he said that she may have a 95% chance of surviving. I felt so much better. It would mean relocating and being away from my husband, but it was worth it for her.
We left this appointment and we were getting ready to leave the hospital when one of the assistants came and found us and said that we needed to come back. That is when we were told that he had just spoken with the person who read the MRI and that there was some fluid around one of her lungs and some of the lung tissue looked abnormal. These were some red flags that there might be some other issue going on, so he strongly recommended we do the amnio.
MOSAIC TRISOMY 15 DIAGNOSIS
I still did not want to do it, but made an appointment with my MFM back home to get it done. We waited for a couple of weeks and I finally called up there to check on the results. I was told that the doctor needed to go over them with me, which worried me because I knew that meant something had come back on it, I just had no idea what it could possibly be.
Then I got the call that it came back with something called mosaic trisomy 15. This meant that some of her cells had an extra copy of the 15th chromosome, while some of the cells did not. Different parts of the body could be affected differently and there was no way to know what would be affected and what would not. We later found out that around 15-20% of the cells were affected. This seemed like a low enough number that I thought she still has a chance to make it. Mosaic trisomy 15 is extremely rare because most pregnancies with this do not make at is far along as I did. This gave me hope that she was strong and could survive this setback.
I called the doctor in Florida and we talked about how this changed the odds. It basically made it an even more unknown because we had no way of knowing how this would affect her. He still agreed to try to treat her and I was grateful.
From here, everything stayed pretty consistent. I was tired of my MFM being so negative and not at all hopeful, when I needed hope, so I changed to a new MFM. I went to my MFM appointments monthly and then every two weeks and nothing changed. She was still growing and the fluid around her lung wasn’t increasing.
PANIC SETS IN
Then one morning, I noticed a dramatic decrease in her movement. She had been moving the night before just fine. I was getting worried, but had an MFM appointment that day. Fortunately, my husband took time to attend with me. This is where we got the news that the fluid had increased around her lung and that it was now in other parts of her body. She officially had hydrops. The MFM told us that basically we could find someone to try to deliver now and spend a little time with her or we could wait and she would be stillborn. He was very matter of fact and I was angry at the time and for a long time after about this. He said they could do a stress test, which I declined at the time.
I called back the next day to get one. I went in and her heart rate was staying consistent, but there was no movement. She wasn’t moving hardly at all. I had desperately called Florida asking them what I should do. Should I come now? Could they deliver her early? Is there anything they could do to get the fluid out of her body?
It took them 3 days to call me back. This is why I have been angry at them. Not because he isn’t a good doctor or anything, but because I was desperate for help and wasted 3 days not knowing what to do. When I finally got the call back I was told they wouldn’t take any extra measures to save her. That she wouldn’t be big enough for ECMO and basically we would just bring her there to pass.
I desperately searched around for someone that would at least TRY to help us. I called the hospital in Houston that has experience with CDH kids and told them our situation. They agreed to see us on the following Monday (this was on Friday I had spoken with them). They also said I should go ahead and go in for a movement check and to make sure that I was okay to travel down to Houston.
That weekend was N’s 4th birthday party. I spent the whole time trying to make it fun for him and being present for his party, while worrying about the baby the whole time. We decided to go in for that movement check after his party. While we were waiting to be checked in, I noticed my heart was racing and my pulse was extremely high. I was just standing there not doing anything and I had that gut feeling then that we had lost her. They turned on the ultrasound and I knew right away there was no heartbeat. I had been through enough ultrasounds to know. The doctor came in and confirmed and then I had to be admitted in order to deliver.
I was induced, but they were nice to let me eat at least. I have to say that all of the nurses were amazing and so kind in dealing with my situation. One of them came in specifically because she said it was part of the reason she became a nurse and that she volunteers to come in for these births. I was very appreciative of her.
It came time to push and I just cried out that I couldn’t do it and didn’t want to do it but I didn’t have a choice. Jasmine was born at 6:46 pm on March 11, 2018. She weighed 4 lbs, 5 oz and was 16.5″ long. She had some dark hair and she was so beautiful. We were able to hold her and spend time with her grieving. I wanted to go home the next day because I didn’t want to be in the hospital with everyone who had just delivered healthy babies. Saying goodbye was so hard. I was both ready to go home and also never wanted to leave her.
We had Now I Lay Me Down to sleep come out and take pictures. I am so glad that we did. I couldn’t look at the pictures right away, but I’m so glad I have them now. They are all that we have and if we had not done it, I would not have the chance to go back and do it again.
We chose to have her cremated so that she can always be with us. We didn’t bring N to the hospital to meet her. I feel we made the right decision at the time, but still sometimes regret it.
AFTER THE LOSS
I don’t regret any of the steps I took, but sometimes I wish I could have done more. I wish I could have had those three days back so maybe I could have made it to Houston. Maybe they could not have done anything but I would have liked the chance to try.
I feel compelled to tell her story because I want people to know how much I loved her and how much I advocated for her. The whole experience has made me dislike doctors. Especially after finding out the mosaic trisomy 15 diagnosis, no one wanted to help. Yes, I am aware the odds were unknown or not good, but to not even TRY? And I know I am not the only one who has experienced this. I don’t know that she could have been saved, but I am angry at the doctors who gave up and I feel like some of them failed us.
All I’m saying is don’t let doctors dictate everything. If you feel like you aren’t getting the best treatment where you are at, don’t be afraid to find another doctor. If you feel like there is something more that can be done, don’t hesitate to bring it up. We are they’re only advocates and we have to not back down when it gets tough.
I want her story and memory to live on and for others in my situation to know that you don’t ever have to give up until you absolutely have to.
I started Project Finding Your Rainbow because of my loss. There were times I thought I would not be happy again. I want to show that you can come out on the other side of this, even when you think you can’t. I want to show how strong and resilient the loss parents are.