20 Week Anatomy Scan // Marker Signs
At 20 weeks pregnant, Ty and I had started accepting the reality that our baby could have Cystic Fibrosis. It still caused us deep heartache but we were wrapping out minds around it.
We would not know if our baby had CF until after they were born since the only way to know if a baby has CF while they are still in the womb is through an amniocentesis, which we decided not to do because of the risks involved.
However, there are marker signs you can see in an ultrasound which could indicate CF. One of these marker signs is mecomium ilius, a blockage in the bowel. About 15% of CFers are born with mecomium ileus. It is very serious and sometimes requires emergency surgery after birth.
Naturally, knowing this, I was extremely nervous for our 20 week anatomy scan. I wasn't just thinking about "Will we have a boy or a girl!?" I was thinking, "Will they have a blocked bowel or a healthy bowel?"
As we walked into the ultrasound room, my mind was racing but as soon as her heartbeat appeared on the screen, my thoughts slowed to a halt. All I could focus on was this beautiful little motion moving back and forth on the screen. My worries vanished for those 20 minutes.
The ultrasound tech talked us through what we were seeing, "Here is her brain...now her heart...here are her feet..." She printed off some images for us to take home, including one we would use for our gender reveal that weekend.
The technician reminded me of my upcoming prenatal appointment on Monday and handed us the envelope with our baby's gender in it.
Just a few days later we found out we were having a baby girl!!
Watch the gender reveal video here!
We floated through the weekend overjoyed and overwhelmed with excitement. Although, I did still have some lingering anxiety knowing my doctor would review our ultrasound with me on Monday.
I told myself, "If they saw a blocked bowel, it's okay. We know she could have Cystic Fibrosis, we know that's a possibility. They would know exactly how to handle a blocked bowel and what to do. She would be okay."
I took a lot of deep breaths as I waited for the nurse to call my name.
The door to the offices opened and my doctor stepped into the waiting room. "Hey, Holly! Come on back."
I thought, "Well, this is a little odd...I am always called back by a nurse."
I followed my doctor to the examining room and she made some small talk then said she would be with me in a few minutes. The nurse took my blood pressure and asked me how I had been feeling. She was a little quieter than usual and moved through my vitals really quickly, not making eye contact with me.
My mind was racing but also trying to be positive as well. If it was something really serious, they would have called, right?
The nurse left the room and I sat in silence for a few very long minutes.
Finally, the door opened and my doctor walked in. "Congratulations on your little girl! That is just, SO exciting."
Pause.
"So, I want to review your ultrasound with you. When we do ultrasounds we're looking for things called "soft markers." These markers are abnormalities that can indicate different diseases or issues for the baby. Usually one marker alone is not cause for concern, but two or more could be indicative of a problem."
Time felt frozen. I knew what she was about to say. The bowel must have been abnormal. She is about to tell me my baby probably has Cystic Fibrosis.
"On your ultrasound, we noticed one of these soft markers. We found a cyst on the baby's brain."
Wait, what?
"It's called a cerebral plexus cyst. Your ultrasound showed no other soft markers so this cyst could be completely harmless. However, this type of cyst is a soft marker for Trisomy 18 so I'd like to do a second scan at a high risk unit in one month to make sure no other soft markers are found."
Within seconds of my doctor finishing the last sentence, I started crying. Now, I am NOT a cryer. I rarely ever cry, especially in front of people, but in this situation if felt like all my body was able to do.
I just felt so vulnerable. Here I was preparing myself to hear our baby has a blocked bowel and possibly Cystic Fibrosis, thinking I was preparing for the worst. When actually the "worst" was a lot different than I imagined. Trisomy 18, or Edwards syndrome, has no treatment and is usually fatal before birth or within the first year of life.
To say I was shocked would be an understatement.
I quickly wiped my tears and focused on asking her everything I could to understand what this meant.
"So her bowels are okay?"
"Her bowels looked perfect."
"And the nurse looked for other marker signs but didn't find any?"
"Yes, she looked very closely and she is one of our best technicians."
"I remember we looked at the baby's brain first...so she knew right away she needed to look for other soft markers??"
"Yes, she knew what the cysts could mean so she looked closely and found nothing else of concern."
"Does the cyst cause any harm or disability to her at all?"
"No. Alone, it's like having a freckle. It is harmless and usually disappears before birth or in early childhood. "
"And we need another ultrasound to make sure there are no other markers?"
"Yes, it's always good to have another set of eyes."
Looking back, everything my doctor was saying should have felt really positive and hopeful but it didn't. At the time I was thinking "She has a marker sign for Trisomy 18. Why would they send us to a second ultrasound if there's nothing to worry about? Could my baby could die before I even hold them in my arms. Could I never hear her take a breath?"
To say this little tiny cyst on her brain gave me perspective on CF would be an understatement.
I started to realize, even if she had CF...I would hear her take her first breath, watch her take her first steps, see her learn and play with friends, find things she's passionate about, dream for the future...grow up. She would be alive. She would be happy. She would learn and grow.
Walking out of the hospital after my appointment my phone rang. It was Ty. He told me to call him after the appointment to let him know how it went.
I realized I had to tell him what they found on the ultrasound.
I wanted him to hear about the cyst and risks in a calm, hopeful, positive way. I thought, if I can take this burden of worry from him, I will. Why worry him now, when we won't know for an entire month if it's truly a positive marker sign?
So, I called my mom first. She became the shore that absorbed the force of my fears. I spilled my uncertainty into the phone. I can't imagine how that must have felt for her. She was in Chicago on business at the time so she called both of my sisters to see if one of them would come sit with me while I waited for Ty to get home. My sister Franki left work and sat with me for two hours.
After talking to my mom, and sitting with my sisters, I felt calm and ready to talk to Ty. I was able to tell him about the cyst, second ultrasound and risks in a way that was hopeful and positive. because of that he spent that next month relatively positive about it all. I was happy to have taken that uncertainty from him but it did leave me a little isolated in my worry.
As I type this, months after this happened, after everything turned out "ok," I can still recall the depth of pain I felt during that month of waiting. With that being said, I have to take a moment to acknowledge every parent who has ever experienced the loss of a child. Whether years after birth, minutes after birth or while they are inside of you, I am sorry. I am so sorry. You have experienced something unimaginable. I have been praying for you ever since this happened to us. No one can fully understand your grief or pain. I don't prentend to have authority to talk in depth about this, I just want anyone who has experienced the loss we feared then, and still fear now, to know I am thinking of you and praying for you.
There is a foundation for Trisomy 18 that I want to highlight here: https://www.trisomy18.org/
If you feel led to give they help families whose second scans confirm Trisomy 18 and fund research for Trisomy 18.
_________________________
Cystic Fibrosis awareness posts will continue! Although this part of our pregnancy wasn't directly about CF, it was a huge part of shaping our perspective of CF as a disease. I know others have had abnormal things found on their 20 week ultrasound as well so I felt someone may benefit from not feeling alone in that time of deep uncertainty.
We would not know if our baby had CF until after they were born since the only way to know if a baby has CF while they are still in the womb is through an amniocentesis, which we decided not to do because of the risks involved.
However, there are marker signs you can see in an ultrasound which could indicate CF. One of these marker signs is mecomium ilius, a blockage in the bowel. About 15% of CFers are born with mecomium ileus. It is very serious and sometimes requires emergency surgery after birth.
Naturally, knowing this, I was extremely nervous for our 20 week anatomy scan. I wasn't just thinking about "Will we have a boy or a girl!?" I was thinking, "Will they have a blocked bowel or a healthy bowel?"
A scripture I meditated on days before our anatomy scan
As we walked into the ultrasound room, my mind was racing but as soon as her heartbeat appeared on the screen, my thoughts slowed to a halt. All I could focus on was this beautiful little motion moving back and forth on the screen. My worries vanished for those 20 minutes.
The ultrasound tech talked us through what we were seeing, "Here is her brain...now her heart...here are her feet..." She printed off some images for us to take home, including one we would use for our gender reveal that weekend.
The technician reminded me of my upcoming prenatal appointment on Monday and handed us the envelope with our baby's gender in it.
Just a few days later we found out we were having a baby girl!!
Watch the gender reveal video here!
We floated through the weekend overjoyed and overwhelmed with excitement. Although, I did still have some lingering anxiety knowing my doctor would review our ultrasound with me on Monday.
I told myself, "If they saw a blocked bowel, it's okay. We know she could have Cystic Fibrosis, we know that's a possibility. They would know exactly how to handle a blocked bowel and what to do. She would be okay."
__________________________
I took a lot of deep breaths as I waited for the nurse to call my name.
The door to the offices opened and my doctor stepped into the waiting room. "Hey, Holly! Come on back."
I thought, "Well, this is a little odd...I am always called back by a nurse."
I followed my doctor to the examining room and she made some small talk then said she would be with me in a few minutes. The nurse took my blood pressure and asked me how I had been feeling. She was a little quieter than usual and moved through my vitals really quickly, not making eye contact with me.
My mind was racing but also trying to be positive as well. If it was something really serious, they would have called, right?
The nurse left the room and I sat in silence for a few very long minutes.
Finally, the door opened and my doctor walked in. "Congratulations on your little girl! That is just, SO exciting."
Pause.
"So, I want to review your ultrasound with you. When we do ultrasounds we're looking for things called "soft markers." These markers are abnormalities that can indicate different diseases or issues for the baby. Usually one marker alone is not cause for concern, but two or more could be indicative of a problem."
Time felt frozen. I knew what she was about to say. The bowel must have been abnormal. She is about to tell me my baby probably has Cystic Fibrosis.
"On your ultrasound, we noticed one of these soft markers. We found a cyst on the baby's brain."
Wait, what?
"It's called a cerebral plexus cyst. Your ultrasound showed no other soft markers so this cyst could be completely harmless. However, this type of cyst is a soft marker for Trisomy 18 so I'd like to do a second scan at a high risk unit in one month to make sure no other soft markers are found."
Within seconds of my doctor finishing the last sentence, I started crying. Now, I am NOT a cryer. I rarely ever cry, especially in front of people, but in this situation if felt like all my body was able to do.
I just felt so vulnerable. Here I was preparing myself to hear our baby has a blocked bowel and possibly Cystic Fibrosis, thinking I was preparing for the worst. When actually the "worst" was a lot different than I imagined. Trisomy 18, or Edwards syndrome, has no treatment and is usually fatal before birth or within the first year of life.
To say I was shocked would be an understatement.
I quickly wiped my tears and focused on asking her everything I could to understand what this meant.
"So her bowels are okay?"
"Her bowels looked perfect."
"And the nurse looked for other marker signs but didn't find any?"
"Yes, she looked very closely and she is one of our best technicians."
"I remember we looked at the baby's brain first...so she knew right away she needed to look for other soft markers??"
"Yes, she knew what the cysts could mean so she looked closely and found nothing else of concern."
"Does the cyst cause any harm or disability to her at all?"
"No. Alone, it's like having a freckle. It is harmless and usually disappears before birth or in early childhood. "
"And we need another ultrasound to make sure there are no other markers?"
"Yes, it's always good to have another set of eyes."
Looking back, everything my doctor was saying should have felt really positive and hopeful but it didn't. At the time I was thinking "She has a marker sign for Trisomy 18. Why would they send us to a second ultrasound if there's nothing to worry about? Could my baby could die before I even hold them in my arms. Could I never hear her take a breath?"
To say this little tiny cyst on her brain gave me perspective on CF would be an understatement.
I started to realize, even if she had CF...I would hear her take her first breath, watch her take her first steps, see her learn and play with friends, find things she's passionate about, dream for the future...grow up. She would be alive. She would be happy. She would learn and grow.
___________________________
Walking out of the hospital after my appointment my phone rang. It was Ty. He told me to call him after the appointment to let him know how it went.
I realized I had to tell him what they found on the ultrasound.
I wanted him to hear about the cyst and risks in a calm, hopeful, positive way. I thought, if I can take this burden of worry from him, I will. Why worry him now, when we won't know for an entire month if it's truly a positive marker sign?
So, I called my mom first. She became the shore that absorbed the force of my fears. I spilled my uncertainty into the phone. I can't imagine how that must have felt for her. She was in Chicago on business at the time so she called both of my sisters to see if one of them would come sit with me while I waited for Ty to get home. My sister Franki left work and sat with me for two hours.
After talking to my mom, and sitting with my sisters, I felt calm and ready to talk to Ty. I was able to tell him about the cyst, second ultrasound and risks in a way that was hopeful and positive. because of that he spent that next month relatively positive about it all. I was happy to have taken that uncertainty from him but it did leave me a little isolated in my worry.
The month leading up to the second scan was extremely difficult for me. I didn't shop for baby clothes or think about the nursery, because I was afraid. Although my doctor had been rather positive with me, it was still utterly terrifying.
I spent that month in prayer, asking God to completely remove the cyst so there was no question she was developing normally. I also thanked God for her healthy bowel because if her bowel would have shown abnormality as well, that would have been two marker signs for trisomy 18. Even if she didn't have trisomy 18 and the bowel was a result of CF, two marker signs for trisomy 18 would have left us in a truly terrifying place for the remaining 20 weeks of pregnancy.
A song I played on repeat during this time: Peace Be Still : Lauren Daigle
Days before my baby shower in October, the day finally arrived for our second scan. My mom, Ty and I walked through the doors to the high-risk unit, yet again.
I had heard babies with trisomy 18 have clenched fists, so my eyes were locked on the screen, looking for her hands. Within seconds I saw a hand pop up on the screen, right by her head. It opened so wide, we could see every finger. Tears of relief and hope rolled down my cheeks.
After our scan was over, the images were sent to the doctor. We waited for a few minutes for the results. Finally, the high risk doctor came into our room and said words I'll never forget, "Your baby girl is perfect. We can find nothing abnormal and the cyst is no longer present."
She was perfect.
_________________________
As I type this, months after this happened, after everything turned out "ok," I can still recall the depth of pain I felt during that month of waiting. With that being said, I have to take a moment to acknowledge every parent who has ever experienced the loss of a child. Whether years after birth, minutes after birth or while they are inside of you, I am sorry. I am so sorry. You have experienced something unimaginable. I have been praying for you ever since this happened to us. No one can fully understand your grief or pain. I don't prentend to have authority to talk in depth about this, I just want anyone who has experienced the loss we feared then, and still fear now, to know I am thinking of you and praying for you.
There is a foundation for Trisomy 18 that I want to highlight here: https://www.trisomy18.org/
If you feel led to give they help families whose second scans confirm Trisomy 18 and fund research for Trisomy 18.
_________________________
Cystic Fibrosis awareness posts will continue! Although this part of our pregnancy wasn't directly about CF, it was a huge part of shaping our perspective of CF as a disease. I know others have had abnormal things found on their 20 week ultrasound as well so I felt someone may benefit from not feeling alone in that time of deep uncertainty.
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