Mosaic Trisomy 16
After eight years of marriage we decided that it was time to start our family. In Jan 2003 my husband and I were excited to find out that we were expecting our first child. I was given a due date of Sept 27, 2003.
In April I received a call from my doctor telling me that my AFP test results came back positive and this could mean that I was carrying a child with Downs. Because I was going to be 35 in August she suggested that I have an ultrasound and amniocentesis. I was seventeen weeks at this point. We went in and were told that everything looked normal on the ultrasound and did we still want to do the amino? We decided to go ahead with the amniocentesis because of my age. We also found out at that time that we were having a boy. The wait for the results seemed endless. On Friday April 25, 2003 our world was turned upside down. A doctor called to tell me that the results came back positive for Mosaic Trisomy 16.
The doctor didn’t know what it was but based on the results from the genetic lab it meant probable mental retardation, heart defects, and physical defects. He said that a genetic counselor would call me later that day. I sat there in utter shock. One of the worse moments in my life was when I had to break the news to my husband that there was a problem with his son. When the genetic counselor called she didn’t have any hopeful information to share with us. She cited case studies from the early 90’s and all the children had major problems. The outcome would not be good. When we met with her all she could say was that this was a “fluke”.
As soon as we hung up the phone we started to research Trisomy 16 mosaic on the Internet. We found the Disorders of Chromosome 16 Foundation website. We sat there and cried reading the stories. How could our son look normal via ultrasound but have all of the horrible things we were being told. Most of the children on the web site were leading good lives; however, some had sadly lost their battle. What was in store for our son? We spent the month of May reading everything we could get our hands on – which wasn’t very much. We kept going back to the DOC 16 website for inspiration. We had many highly detailed ultrasounds and everything always looked fine with our son, other than his growth to be on the slow side. There were two Ultrasounds that I just could not bring myself to look at the screen. I guess I needed to disconnect so that I could try to think logically about what was happening. My husband was watching both times because he needed to connect with the baby. In the event we wanted to terminate the pregnancy my OBGYN suggested we meet with an abortion doctor. My husband and I made it very clear that we absolutely did not want to be in that office; but felt we had to have as much information as possible to have a better idea of what we would be facing.
At 23 weeks I had a level two ultrasound. The perinatologist did an echocardiogram and took every possible measurement. My son looked fine. The only thing that he could not detect would be a pinhole in the heart. If our son did have one that it most likely would heal on its own. The perinatologist we were seeing was so wonderful. He spent a lot of time with us going over every single detail. We had so many questions and he did his utmost to answer them to the best of his ability. It was reassuring to be told that the ultrasounds looked normal. However, they could not erase the amino results. Even though the ultrasounds were clean/normal that didn’t mean there wasn’t a chance that there could be some type of birth defect that could not be seen in the ultrasounds.
On June 1st I finally called Karen
Lange. Thank god she was available to talk to me. The first words out of
her mouth were that mental retardation was NOT a factor in this
particular chromosomal problem. I felt that the weight of the world was
lifted from my shoulders. I finally allowed myself to believe what I had
been feeling all along in my heart; that the outcome couldn’t possibly
be as bad as we were initially told. I also spoke with Emily’s mother &
Madison’s mother that day as well. They were a huge source of
inspiration to my husband and myself. They were willing to share their
stories and pictures of their beautiful daughters. Too bad it takes an
experience like this to meet such wonderful people. One of my regrets
was that I didn’t contact the DOC 16 foundation sooner.
At the end of June when I was 27 weeks along the perinatologist did a Doppler test. He determined that the baby’s heart was working harder than normal to pump blood. He conferred with my OBGYN and they put me on complete bed rest. They felt it would be best that I had limited activity so not to cause too much stress to the baby. By week 30 I was going in for non-stress testing and amino fluid checks twice a week. My fluid levels were on the low side so I was being carefully watched. They ranged from 7 to 10. I was drinking 16 ozs of water every hour trying to keep well hydrated.
By week 33 they believed the baby to be about 3.8 lbs. His growth was still on the slow side but not very far behind on where he should be.
At 35 weeks and 4 days while I was at my normal NST the baby had a heart deceleration.
My fluid level was at 8.9. The doctors sent me over to Labor and Delivery to be hooked up to the monitor and checked out. After four hours they released me and sent me home. They wanted me to come back
The next day to have another NST. I was so scared. The emotional roller coaster that my husband and I had been on for the last four months was catching up with us. I packed my bag for the hospital and put it in the car hoping that I wouldn’t need it for another few weeks. The next day my fear was realized. During the NST testing there were more heart decelerations and my fluid level had dropped to 5. I was admitted to the hospital and the delivery nurses started me on cervical gel. The next morning they put me on Pitocin.
The entire day I was experiencing high blood pressure. The doctors would not allow me out of bed.
The baby seemed to be tolerating labor just fine but I was having trouble.
Finally at 6:55 pm on August 27, 2003 Ryan was born. Ryan weighted in at 4.1 lbs and was 18 inches long. He was the smallest, skinniest baby we had ever seen. He let out the loudest cry. We all sighed with relief. The delivery doctor passed him onto to a team of doctors and nurses they swarmed over him to check him out. I think he had more doctors waiting for him than I had. The neonatalogist came over to tell us that our son looked good. His lungs sounded healthy and he was doing very well. She noted that he had a Palmers crease in one hand. This was one of the things we had read about. It is not unusual and in fact we discovered another family member had one also. There are no words to describe the range of emotions that my husband and I were feeling; from absolute joy of seeing our first child born; to the fear of the unknown. The past months of being completely absorbed by the MCT 16 diagnosis gave way to elation as we gazed into the beautiful face of our new son.
Ryan was able to spend a few hours with us in the room before going into the nursery for the night to be placed under the warming lights in the NICU. My doctor described my placenta as half the usual size and the umbilical was pencil thin but with all three blood vessels running through it. The next day the pediatrician came to visit and decided that Ryan was just to small to determine if Hypospadius was a concern. We had to hold off circumcising him until he had grown some and would need to be checked out by an Urologist. Ryan was doing so well that he was ready to be released in two days but the doctors decided to keep me a bit longer due to the high blood pressure and fever that I developed. They gave me some medication and released both of us the next day.
The doctors decided it would be best that Ryan be bottle-fed in order for him to gain as much weight as possible as quickly as possible. Three weeks after he was born he was up to 5.8 lbs and had gained an inch! We were all so pleased. We visited a geneticist to have Ryan looked over when he was seven weeks old and she said that she could not find anything wrong with him appearance wise. She suggested that we have his blood tested to determine if he had any of the Trisomy cells. The wait for the test results seemed endless.
Thank goodness they were negative! He has had a minor problem with acid reflux and was on Zantac until he was about nine months old.
We kept telling ourselves how lucky we were that he was doing so well. He has reached all of his milestones on time or early. He started walking at 10 months! Ryan has progressed wonderfully over the last year. He just celebrated his 1st birthday. Ryan now weights 20 lbs. And measures out at 29-1/2 inches long. His doctor is extremely pleased with his development. He is a fun and happy child. My husband and I sometimes sit gazing at him with tears of joy. We truly believe he is our angel. Ryan is proof that a diagnosis of Trisomy 16 Mosaic can still mean a joyful outcome.