Mosaic Trisomy 16
Don and I had been trying for some time to get pregnant, and after getting some help from an infertility specialist, we were finally able to conceive. We found out two days before Christmas of 2009, and we were so thrilled to celebrate the news with our families for the holidays. My first trimester was normal...lots of nausea, fatigue and an emotional rollercoaster, but we were so happy!
At 19 weeks we went in for our midway Level 2 ultrasound, and the technician thought we had our due date miscalculated. We insisted that we knew exactly when we had gotten pregnant, since we had been trying for so long we were tracking everything pretty tightly. The doctor came in and took a look, and met with us and said he had concerns, that our daughter was measuring about two weeks smaller than what she should be. We were concerned, but didn't think it was that big of a deal. I had weight loss surgery in 2006, and many women report having smaller babies after having the lap band. We thought that was it, but because of my age (37 at the time) the doctor really pushed for an amnio. He told us that he feared there was a chromosomal issue.
We went through with the amnio, and I was so terrified. But Don was there with me, and we just prayed that our little girl was alright. The initial quick test result came back the following Monday, no Down Syndrome or Trisomy 22 or 18. We felt relief, but the doctor told us that we needed the full results before we should relax.
On Friday, two days before Mother's Day, the doctor called me. He wanted us to come to his office, which was an hour away. I told him to just tell me on the phone, I didn't want to be far from home if something bad was coming. He told me the bad news...Leyna had a very rare chromosomal disorder called Mosaic Trisomy 16, and he had never seen a child with it. He said she had it in 3 of 15 cells. He spoke of facial deformities, heart defects, problems with the digestive system, severe mental delays. He told me that we should terminate. In the US, it is illegal to terminate after 24 weeks. We were two days shy of 23, so we basically had the weekend to decide. I was devastated, and called my husband as I left work to go home, and basically say goodbye to my daughter.
I spoke with my two best girlfriends, who cried with me. They both immediately got online to research. There is so little information out there! Most of it is pretty negative, too. They both found the DOC16 Foundation, and encouraged me to read the stories. I felt a little sliver of hope. A few hours later the doctor called and asked what we had decided...we told him that we were thinking that we could handle this, that we had found some promising information out there. He told me, "I don't think you understand, these babies are extremely difficult". He made an appointment for us to meet with him on Monday at the Naval hospital, which is in our city and not so much of a commute.
For the entire weekend I was almost hysterical...we already loved our little Leyna so much! And now we had to decide what to do...I was inconsolable, and my husband was afraid. I ended up speaking with Rosalyn Saturday morning on the phone, and after an hour of talking with her, decided to write to the foundation. We heard from so many families! Many of them with positive stories...some children need some speech therapy, some need physical therapy, some need nothing at all. A few here and there needed some surgeries, but basically were growing up to be great kids. Some of the stories were sad, but I still took some hope from those stories too.
That Monday we went to the doctor and asked him what he saw on the ultrasound that was concerning. He said her size, and that she had a small VSD in the lower chambers of her heart. We asked him if he could prove that our daughter was going to suffer. He admitted that he had no proof. We then told him that we were going to move forward with the pregnancy, and see this through. We worked out a plan with him as to how we were going to address the problems with the pregnancy, and went from there.
For the next several weeks, everything was okay; my blood pressure was fine, all of the ultrasounds showed that Leyna was small, but she was still growing. The umbilical cord was doing well. On my birthday, June 29th, we had a very positive ultrasound and Doppler. The doctor said he was excited that he was really starting to feel like we were going to make it to 37 weeks, which was our goal. Less than two weeks later, on July 6th we had another Doppler on the cord, and everything had changed. They checked me in to the hospital, and told me I was there for the duration of my pregnancy. I was 31 weeks and 2 days. They gave me steroids to help develop Leyna's lungs in case we needed to deliver. I was confused and afraid. I didn't understand. I felt fine and Leyna was moving normally. Three days later they did another Doppler, and moved me into Labor and Delivery so they could monitor Leyna 24/7. They said the umbilical cord wasn't functioning properly, and they were worried about her, but not enough yet to deliver.
Saturday, July 10th the nurse came in to check my vitals and rushed out of the room. I didn't know why, but saw my husband and the look on his face...and then the doctors came running in. That was when the pain hit. I had severe pre-eclampsia, and my blood pressure had gone to 204 over 119. They gave me magnesium, and told me that the only cure was delivery, it was time to induce labor. After 12 hours of trying to induce, they scheduled me for surgery, since nothing had changed. On Sunday the 11th, I was taken in for a C-section. I told my husband that I was so scared her lungs weren't going to be ready and she wasn't going to cry. He told me to hold his hand and pray, and we did. At 2:12 pm Leyna was born, and I heard a little squeak. To this day, best sound I have heard in my entire life! Right then, I knew that whatever happened, we could handle it.
She was so tiny! Only 2 lbs., 4 oz. and 14 inches long. They wheeled her past me and the first thing I thought was "Oh God, she's so little" and the second thing I thought was "she's perfect." They took her to the NICU and Don went with her...I didn't remember too much else after that for a few hours. That evening the NICU doctor came in and told us that they had extubated her, after only seven hours she was breathing on her own, with just the nasal cannula to help her out. We were thrilled! He told us that as far as he could tell, she was just a normal preemie, that there was nothing alarming about her. He said she looked like she was going to be a "boring" NICU baby. We were fine with that.
After 38 days in the NICU, Leyna came home. She was 3 lbs., 9 oz...too small for the car seat even! We had to take her home in a "car bed" that the hospital loaned us. I was so scared that first night...how would I know if her heart rate was good? Her breathing, or her oxygen saturation? The nurses told me "DeAnna, moms who come home right away have no idea what you are talking about". I felt a little silly :)
Leyna has grown and thrived since she came home. We have been proactive with her development, and she has been in physical therapy since she was three months old. She has hit all of her milestones for her corrected age, and continues to amaze us. She is a happy, healthy child! Leyna is now 14 months old, she is crawling, walking with help, babbles constantly, loves to play with animals, loves books and is obsessed with her Daddy. Every day we thank God for her, and we are so hopeful and optimistic about her future. I hope to continue updating this website with nothing but positive stories.
Thank you, everyone!