Mosaic Trisomy 16
After losing identical twins and struggling to become pregnant again, Tom and I turned to an infertility specialist and were able to conceive. We found out we were pregnant early April 2011. At our first ultrasound, when we were about 6 weeks along, the infertility doctor told us that the baby was measuring small and it looked like we would miscarry. Completely devastated, we went home and decided to ignore what the doctor had told us. We saw our normal high risk doctor for the first time when we were 8 weeks along. He thought the baby looked perfect and that everything was going to go well this time.
At 12 weeks we had our Level 1 ultrasound. While the ultrasound part of the exam went well, our blood work came back funny and we were instructed to have a CVS test performed. A few days later the doctor called to tell us that the quick test results came in and that the baby tested negative for Down Syndrome, Trisomy 22 and Trisomy 18. We were thrilled and thought that it would be smooth sailing from there on. However, a few days later Tommy came home looking white as ghost. He told me that the doctor had called him and told him that the baby had a very rare chromosomal disorder called Trisomy 16. The disorder was found in 100% of the baby's cells that were tested. He asked that we come in the very next day to discuss this with him.
After an exhausting night of crying and screaming we met with our doctor the next morning. As he went over the results with us, he was holding the report in his hand and all I could see were the letters XX on top followed by the word FEMALE. The baby was a girl! From the moment we found out we were pregnant I told Tommy that I thought it was a girl and now we were sitting down with a doctor who is telling us that we should abort our baby girl. It felt like a crazy nightmare that we just couldn’t wake up from. The only thing I was certain of was that if I was right about the baby being a girl than my motherly intuitions would most likely be right throughout the entire pregnancy and I was going to listen to them.
Later that day we met with a genetic specialist who basically knew nothing about MT16 and it was a waste of our time. So with the guidance of our doctor we decided have an amnio performed. He thought that since looking at the baby’s sonograms there were no signs of anything wrong other than the baby being small for gestational age that we should have the amnio performed with hopes that only some of the baby’s cells would be affected. I’ll never forget the day I got the call saying that all cells came back negative for MT16. I was at my sister’s house and couldn’t wait to call Tommy and tell him.
With the CVS showing 100% of the cells affected, the AMNIO showing 0% of the cells affected and the baby’s sonograms showing nothing odd (other than her being small) we decided to continue on with the pregnancy. After making that decision we felt lighter and freer. We knew that things could still go wrong, but at least it was out of our hands. For the next few weeks we tried to act as normal as possible, aside from going to weekly sonograms, we thought about baby names, registered for baby items and even picked out furniture for the baby’s room. And since we weren’t planning on finding out the sex of the baby, we didn’t tell anyone that we knew.
At 29 weeks and 3 days I went for a regular checkup. The baby once again looked great on screen, she had stayed 2 weeks behind in size, but never fell below that. All was good and I thought I was feeling good. However, when they took my blood pressure it was through the roof and I was immediately sent to the hospital where I was diagnosed with preeclampsia, admitted and put on magnesium. (Looking back my eye sight had been a little blurry and my ankles were pretty swollen because I was retaining water, but at the time I just thought those were 3rd trimester pregnancy symptoms.)
After 11 days in the labor and delivery room, being monitored constantly, on and off of magnesium, and ordered to stay in bed, my blood pressure finally spiked too high and at around 7 pm on October 15th we were told that we would have to have an emergency C-section by the doctor on call. Tommy knew I didn’t like this plan, so he called our doctor, who was off duty, and by 11 pm that night our doctor was in our room administering a drug that would induce labor.
At 2:40 pm October 16th, 2011 Ella Frankie was born, naturally, weighing 2 lbs 6 oz and at 15 inches long. We were told that she wouldn’t come out crying, but that little miracle came out crying. It was a soft cry but nonetheless a cry. Since she was only 31 weeks gestational age, she was immediately taken to the NICU. (Tom and I did get to kiss our little girl first!)
Ella spent 55 days in the NICU. It was a very scary time. There were many ups and downs. Ella came down with late onset Group B Strep Sepsis twice, which almost killed her both times and prolonged her release date. Other than that Ella had no major issues. She was incubated following birth and during each illness, but other than those few times her breathing was great for someone born so early.
Ella came home weighing 4 lbs 6 oz, at 2 months old. She was tiny but perfect! At first we were terrified to be alone with her, but we knew that they wouldn’t have sent her home unless she was ready. At home she received physical therapy until 9 months. She had many appointments with specialists. She had to have her eye sight checked about 3 times, her hearing, her heart and she even had an umbilical hernia that disappeared during the visit when we were supposed to book her surgery. She crawled and walked a little on the late side (12 mths & 16 mths) but her doctors were never worried.
Ella is now 2 ½ years old. She is tiny, about the size of a 1 year old, but she is beautiful and happy. Her speech isn’t the clearest, but it gets better every day and once again doctors have never been worried about it. She has been in dance class and gymnastics since age 2 and will be starting nursery school in September.
She is still seeing specialists. The most recent is a pediatric endocrinologist. Since she didn’t catch up in height by age 2 we were asked to go to a specialist. We had 1 appointment a few months ago and have a follow up in July. It was suggested that Ella be placed on growth hormones, her height will be watched from now until age 3 and if by then she has not caught up to the doctors liking, she we be placed on growth hormones. Obviously we are hoping she has a growth spurt!
While Ella’s beginning might seem scary and crazy to most who read it, looking back it seems like a distant memory. Every day with our little miracle has been amazing. And no matter what obstacles we have been through to get to this point, we wouldn’t trade them for anything. Ella’s journey to us has made her the person she is today. She has us wrapped around her little finger and that’s exactly how we like it!