Skip to main content

It’s a Boy!!!

Since our last post it has been pretty quiet at the Kaser house until this Wednesday afternoon. I received a call at 1:45pm from our Genetic Counselor. She said the results from the CellFree Genome Blood Screen were in and she would like to go over the preliminary information on the phone. I was headed into school for a meeting and said I would call back at 3pm when I was home, so Brian and I could call together.
We called the counselor at 3:10pm and she told us that the screen tested positive for Trisomy 13. She then told us there were 3 different types: full (80% of cases), translocation (20% of cases), and mosaic a very small percentage of cases. Since we opted out of the amniocentesis we would have to wait until baby is born to find out what type of Trisomy 13 it is, and then, depending on the type, whether Brian or I are carriers as well.
The Genetic Counselor also told us that with a baby with this disorder there is an increased risk of loss still and death after birth. She told us about a 2016 study that looked at 175 live births of Trisomy 13 individuals. Of those babies (20%) made it to their first birthday, (13%) made it to 10 years, and the median lifespan for most babies was a few weeks.


Brian and I sat at our dining room table trying to process what we were hearing. Even though the blood screen was not diagnostic it is highly likely our baby had Trisomy 13. As our conversation was finishing up, the Genetic Counselor asked who told us we were having a baby girl because the blood screen came back with Y chromosomes, so it turns out we are having a little boy! I started laughing and Brian was smirking. We could hear the relief in the Genetic Counselor voice that this wasn't something we were upset about. When we first heard about Trisomy 13 or 18 as a possibility my sister Jessica said to us after doing some research you know it could be a boy. Well it turns out she was right. We ended the conversation with planning to come in to the MFM office the next day to meet with the doctor.
In the same way, the Spirit helps us in our weakness. We do not know what we ought to pray for, but the Spirit himself intercedes for us through wordless groans. And he who searches our hearts knows the mind of the Spirit, because the Spirit intercedes for God’s people in accordance with the will of God. ~Romans 8:26-27~ 

Though the mountains be shaken and the hills be removed, yet my unfailing love for you will not be shaken nor my covenant of peace be removed,” says the Lord, who has compassion on you. ~Isaiah 54:10~

Comments

Post a Comment

Popular posts from this blog

Pulmonary Atresia with Ventricular Septal Defect (VSD)

To everyone that has prayed for Oscar. Please keep praying. Today at his fetal echo cardiogram we found out he has Pulmonary Atresia with Ventricular Septal Defect (VSD). What this means is that there normally is a pulmonic valve that opens and allows blood to exit the heart through the right ventricle. Oscar's pulmonary atresia valve is permanently sealed or absent. Along with that, the main pulmonary artery is very small about 1/4 of the size it should be and it is much smaller than the Aorta. Oscar also has fluid surrounding his entire heart which was not there on the August 1 ultrasound. His heart function is okay, but it is not good. During the 2 hour fetal echocardigram there were also signs of fetal arrhythmia of Oscar's heart rate dropping lower and more quickly then it should. Going forward we need your prayers for our son's heart. We believe in a God that heals and does miracles. We don't know if Oscar being born alive is going to be that miracle we are gi...
Post a Comment
Read more

3 years

3 years today since Oscar left us and went to Heaven. I can't help, but replay his last days in my mind and vividly recall certain details. For any parent with a sick child whether that child was an infant, child, teenager, or adult those last days, hours, and minutes are such a blessing to have, but still so painful when you allow yourself to really remember them. You look back and you can't help, but wonder if you made the right decisions, did you push them too hard, why didn't you see how sick they really were. Those are things that after 3 years I still wonder and I am sure always will.  To someone that hasn't lived through their child dying you are probably thinking that doesn't seem healthy, but for us that have lived through this I beg to differ that I think it is completely normal. You see as a parent you always want to do what is best for your child to make sure they are happy, healthy, and feel loved. My child is not here to think about those things prese...
3 comments
Read more

Meeting some of Estella's Team

Brian and I headed for the MFM office Tuesday, August 1. Our appointment was at 10:45am and we got called back around 11:00am. Our ultrasound technician was wonderful. She was so kind and it turned out she lived in the same town we did. It was a long ultrasound and one where questions were asked, but answers were not able to be given. Estella was moving a lot during the first half of the ultrasound which was fun to see and good to hear her heartbeat (155 bpm). Throughout the ultrasound the technician had to leave from time to time to talk to the doctor and to see what remaining images he wanted. About 12:30pm the ultrasound was finally completed and into the room came the maternal fetal medicine specialist doctor and genetic counselor. The doctor told Brian and me that our baby had some significant birth defects: a bilateral cleft lip with possible palate involvement, a VSD heart defect, and Dandy Walker Malformation that affects the cerebellum in the brain. I sat on the ultrasou...
Post a Comment
Read more