Carter
Mosaic Trisomy 16
I first want to start out by saying that I hope you draw strength from the stories on this website. This site was the only one that I found that gave personal accounts of MT16 babies. I spent a ton of time researching, but kept coming up with the same case studies and research over and over. I was frustrated and wanted to know everything I could when I was looking for information, so that is why I wrote so much.
I remember my husband and I sitting at a restaurant before we had our ultrasound at 19 weeks. No one in either of our families had ever had difficult pregnancies, so the only thing on our minds was the gender of our baby. After being in the ultrasound room for over an hour and a half, we knew something was probably not right. My placenta looked like “Swiss cheese”, something that even the most senior ultrasound doctor or tech had never seen before. We were referred to the perinatologist, and even the specialized doctor there said that he had never seen anything like it. He said that it could be a molar pregnancy, which is incompatible with life, and that it could be harmful to me as well. After hearing that, we decided to have the amniocentesis.
I don’t want to scare anybody, but I was terrified of having a huge needle stuck into my belly where my baby was growing. We were told that there was about a 1% chance of a miscarriage, but because we were told my health could be at risk, we did it. I am so happy that we did, because we would have never known about MT16 if we had not had it done.
I remember feeling so elated when the perinatologist himself called me at work to tell me that the preliminary results of the most common four genetic conditions were negative. We seemed to have “normal” results and a healthy baby. We were crushed when the MT16 results came back after three weeks. Carter had an extra 16th chromosome in 12 out of the 17 cell colonies examined. Even though I found research that said the number of cells affected in the amnio didn’t correlate with how affected your child might be; I found it very difficult to believe it.
I thought Carter might be very disabled, and mental retardation was always in the back of my mind. Boy was I wrong! After that diagnosis we were sent to the geneticist who did her best, but found only the same information online that we found. I was extremely disappointed. I thought that after going to see her, my questions would be answered, and I would know how my son was going to be affected from this extra chromosome. We were told that with any chromosome disorder, mental retardation was a possibility, and even likely. The truth is, you really don’t know how your child will be affected until they’re born. We even had several diagnoses more than a year later.
During the pregnancy, I had multiple ultrasounds and was closely monitored. The only condition they found was a hemivertabrae, which means a vertebra that is not correctly formed. We were told that it could result in scoliosis, but that was all that they could see. The heart looked fine; everything else looked fine.
Fast forwarding a bit, I was 32 at Carter’s birth and had developed pre-eclampsia. I was put in the hospital at 33 ½ weeks because of high blood pressure and protein in my urine. About 3 weeks later, I was induced, but after about 36 hours, due to unreassuring fetal heart tones, they had to do an emergency c-section. Carter was born at 36 weeks and 6 days in January of 2009, making him a premature baby by one day. It was both the best and most difficult time in my life.
Carter had more than just a hemivertabrae. The first thing that I was told was that he had an imperforate anus, which meant he didn’t have an anus. This obviously needed to be corrected quickly, so two days after Carter was born, a general pediatric surgeon did the first surgery. That was followed by a second surgery a few months later, and a third to finish the process a few months after that. During those surgeries, Carter also had his fistula repaired and hypospadias corrected. The fistula was a passageway between two vessels, where there was not supposed to be a connection. Hypospadias means that the hole of the penis is not in the center. Carter’s wasn’t too far off from “normal”, but our surgeon did correct it. I didn’t know what a colostomy bag was prior to this, but now I found myself performing nursing duties at home to care for my son. We were in the NICU for 9 days. He was 6 lbs 11oz and did not have IUGR (intra uterine growth retardation). He also had a normal umbilical cord.
In addition to the imperforate anus, we were told that Carter was born with a 54 degree curvature in his back-scoliosis, fused ribs, multiple hemivertabrae, a fistula, and hypospadias. He also had some GI issues and allergies, but those have all disappeared now. Due to the imperforate anus, he had a 50% chance of being able to be potty trained. (So far, we are optimistic because he does sometimes use the toilet at age 2 ½.) After holding him one of the first times, I saw that he was missing his right nipple… the doctors forgot to mention that to me. I learned that the muscle beneath would likely be underdeveloped, and it is. We were told that he had two arachnoid cysts in his brain, but later found out that it was a misdiagnosis, because they can no longer be seen.
We also learned when Carter was about 14 months old that he had a tethered spinal cord which is technically closed spina bifida or fatty filum terminale. Without the cord being released, there was a chance that Carter could become paralyzed and not have control of his bowels and bladder. That scary surgery was done just before the VEPTR surgery at 18 months. VEPTR stands for Vertical Expansion Prosthetic Titanium Rib(s). Carter would have died at an early age if it were not for this recently FDA approved surgery. The orthopaedic surgeon put two vertical rods in Carter’s back. One was placed from a top rib to a rib in the middle, and the other was placed from a top rib to his spine. They also separated the fused ribs. Every 6 months, the ribs will need to be expanded so that his lungs will have room to grow and to also help straighten his spine. Every once in a while his rods will need to be replaced and we will probably be in the hospital for several days with that surgery. When he is done growing, his spine will likely be fused, unless there is a better treatment at that time. He will probably have around 30 surgeries for his back. We also found out that he has a rare heart condition called left ventricle noncompaction cardiomyopathy. It could mean anything from having no impact on him, to needing a heart transplant.
It sounds like a lot to deal with, but his heart has been normal, and most of the difficult surgeries are behind us. Luckily, we will only need to spend one night in the hospital with the expansions, and sometimes we can go home the same day. Carter has had a blood test, skin test, and his cheek swabbed to test for the extra 16th chromosome. All of the testing shows normal chromosomes, but I KNOW that he has MT16 because it was so prevalent in his amnio. There is also no other reason for all of his medical conditions. I think that if they tested exactly where the problems are, they might find the extra 16th chromosome, but I’m just guessing. On the up side of things, Carter is very intelligent. By the time Carter was 25 months old, I could point to an upper or lower case letter and he could tell me the letter. He plays the iPod, goes to story time, loves books, trains, cars, playing with his friends, and he has met all of his physical and cognitive milestones on time or before.
The first part of Carter’s life was the most difficult… when we didn’t know what to expect. I’ve done a lot of crying and even more researching and now know that it is so important to understand Carter’s issues, but even more important to focus on him, the person. He is my child and I love him with all of my heart!
Now that all the cards are on the table, things are much easier. We know what to watch and we just know that he has to have surgery frequently. It just is part of our life now. It’s that simple. We live a very normal life, aside from being at the hospital every 6 months. He is such a blessing in our life and to others who have the privilege of knowing him. He brings so much joy to our family. I think it is worth mentioning that we just had another child, a little girl, that is 2 ½ years younger than Carter. She is healthy in every way. We were very scared to have another one, but are so happy we decided to go ahead with the second pregnancy. I wanted to know as much as possible about the other children who had MT16, which is why I wrote so much. It’s important to note that we do not consider Carter to be disabled in any way. He can participate in any sport he likes, for fun. He just will not be a competitive football player with his rods, but neither are 99% of people, and there is no question about his mental abilities. I know that Carter will live a long and happy life and I wish peace to everyone who is in the situation we were in 2 ½ years ago.