Pregnancy is supposed to be filled with joys and happiness. You are supposed to go buy cute little baby things. Your friends and family are supposed to throw you a baby shower where you are given useful, and charming things. You are supposed to complain about all those horrible pregnancy symptoms, marvel in first kicks, and delight in the sight of your child on ultrasound. It's a time for plans and excitement.
Not for terror and confusion.
It's not supposed to be a time of unknowns, and such fear that you can't bear to create a beautiful nursery for your baby-to-be. Where you wander around the baby departments at your local stores, pick up little things in pure want, and feel your heart sink as you place it back. Having a million questions that can't be answered by anyone, including the best doctors, and simply not knowing what will be in store for your precious baby. Being too scared to complain, because you are afraid that God will take your baby away. No one can ease your fears, they only seem to add to it, with more questions and new worries.
Welcome to the world of a rare genetic disorder called Mosaic Trisomy 16. Countless families have stepped into these shoes, and yet there is still only as much known about the disorder as there was ten years ago.
What is Mosaic Trisomy 16? A Trisomy is when there is three of the same chromosome, instead of two, in each cell.. Mosaic means that the extra chromosome is not in all of the cells, but only in a select number, or pieces. 16 is the chromosome number affected.
This is an extremely rare genetic disorder. If a child had Trisomy 16, meaning all cells were affected, they would die in utero, probably before the first trimester is over. It is believed to be one of the most common reason's why some babies are miscarried. There are also several other Trisomy disorders not only affecting the 16th chromosome group, but many of the other 23 groups of chromosomes. Some of the more common ones have names, Trisomy 21 is Down's Syndrome, and probably the most common Trisomy there is. Trisomy 18 is Edward's Syndrome, and Trisomy 13 is Patau Syndrome. It is commonly believed that any child with a Trisomy will have no quality of life, but that is simply not the case. A lot of children who survive pregnancy, birth, and infancy with a Trisomy have problems, but not all have the worst-case scenario the doctors and genetic teams would like for you to believe. Some of these children prove those disbelievers completely wrong, and you would never know there was a thing wrong with them.
In the instance of Mosaic Trisomy 16, or as those who deal with it on a daily basis call it, MT16, there are no known absolute "this is how your child will be" cases. Each child born with MT16 is different and has varying medical problems and conditions. Some of the more common things are; Intrauterine Growth Retardation (IUGR), Prematurity, Two-Vessel Umbilical cord (they usually have 3 vessels), Congenital Heart Defects, and a lot of the boys have needed Hypospadias Corrections. The other problems are too far and wide a list to share. Each case, as each child, are different. As is each story.
Our story started in 2001. Five years of secondary infertility and several miscarriages after our first child my doctor offered the possible solution of a common fertility drug. Clomid is commonly used to help with ovulation difficulties. On our third month of this medication, and when we least expected it, I finally conceived, on my birthday. Only a few days later I went into the office for a routine blood test, knowing it would be like all the rest, a big fat negative. Instead, I was surprised and shocked into tears with a positive result. Completely disbelieving, I took a home pregnancy test the following Monday, and was still shocked and amazed that it had too, come back positive. We had an early ultrasound done the following week, and saw nothing. I was worried there, a little, but somehow I knew, this time was different. At least that's what I wanted to believe.
On July 26th, we went in for our second ultrasound. Still only a few weeks along, we were looking for that baby, and the relief of seeing a heartbeat. When the ultrasound tech began, we saw a little line and a little beating bubble connected to it. That was our baby, and the heartbeat. We were given the gift of actually hearing the baby's heartbeat through the ultrasound machine. The heart rate was 107. Not many people can say that they heard their baby's heartbeat at 6 weeks gestation! It was a gift, a miracle, and I knew right then and there, if nothing else, this baby was a fighter!! Our due date was March 17th 2002, St. Patrick's Day.
When we had our 3rd ultrasound the following month, we were blessed by hearing the baby's heartbeat again. The little heart was beating at a rate of 180! We were so excited, this time we could make out a little head, body, arms and legs! Then the ultrasound tech made a comment about how the due date based on measurements was March 22nd. I know five days isn't much, but this struck me as odd. I asked my OB about it, and he just said not to worry about it. I tried to brush it off, but it seemed to stick in the back of my mind.
In September I wasn't feeling well and had our first official OB appointment. The baby's heartbeat was detected with the Doppler, and was beating at a rate of 158. Everything seemed fine and we were past that point where I was finally able to really get excited. We went ahead and scheduled the Alpha Fetal Protein (AFP, Triple Screen) test for the following week. I had one done with our oldest child and expected nothing but a normal result with this one too.
In October I began feeling movement. This was one of the aspects of pregnancy I loved! On the 9th we went in for my routine OB visit. We found out the AFP had come back abnormal, giving off possibilities of both Downs Syndrome and Spina Bifida. Between my Doctor and my husband, they talked me into getting an amino. So on the 19th I went in, and as terrified as I was, it was better then I had expected. I still never wanted to do it again, and was a bit traumatized due to my own feelings on needles. The results came back on October 30th and we went into the office to discuss them. My mom, husband, our oldest son, and I were in a small little exam room when the doctor came in. He told us, "It's not Downs or Spina Bifida. The baby has a rare genetic disorder called Mosaic Trisomy 16." Everything from then on fell on half deaf ears, up until he said, "Oh and by the way, it's a boy!" All I could think was, it's a boy. Our new little boy. His name had been picked out for a while, he would be named Noah Alexander. It seemed like a nice strong name, and in this case, this baby needed every ounce of help he could get!
A genetics appointment was made quickly in Marshfield, about two hours from home. When we got home after making the appointment, first thing I did was jump on the internet and try to look up any information on Mosaic Trisomy 16. We couldn't find anything, until one thing popped up, a site called Disorders of Chromosome 16, or better known as DOC16. A woman, named Karen, who a little over 6 years before had been in my shoes, with her daughter Shayna, contacted me. She's the founder of the organization and the whole goal was to make sure that other families had information to go on, other then the worst-case scenarios given by the Doctors. She became an angel on earth to me, because she provided me with as much information as she could to help us learn more about MT16. I read all the stories on the website, I wanted all the info, good or bad. I wanted to be prepared, and most importantly, I wanted our 5 year old son Calahan to be prepared. We learned that no matter when his birth occurred (early or full term) he would be tiny, that was a very big commonality between all the cases. We found out he would probably have some sort of heart issues, and possibly some umbilical cord problems but other then that, the list was long and wide of possible complications to both pregnancy and baby. It was overwhelming and scary. But I managed to hold onto all the good in the stories too. These babies were making it, past pregnancy, past infancy, into childhood. They were smart, they were reaching their milestones, and they were beautiful.
We went to Marshfield a few short days after the diagnosis was revealed. I was close to 21 weeks, over half way through the pregnancy, and only a few weeks away from a "viable" pregnancy if he were to be born then. First thing we ended up doing was getting a Level II ultrasound, they pushed and poked and let me tell you, that was the most painful ultrasound of my life. I got a few pictures out of the deal. Then we went down to the genetics department after the 2 hour poking session and was escorted to a conference room. They started out by telling us how this happens. While the egg is splitting two of the same chromosome goes into one and two go into another but in this case, three go into one egg and one goes into the other the egg with one cell dies off, but the one with three continues to split and multiply. It wasn't anything my husband and I could have prevented, or caused, it was just a fluke of nature.
They went on, telling me how he would have no quality of life, would be mentally and physically delayed, would probably die in-utero or shortly after birth every possibly bad outcome was given to us, but not a single positive thing. Then he said he had to give us the option to "interrupt the pregnancy." It took me a moment. I'd never heard it phrased like that before. "Interrupt the Pregnancy." I was half way through how could that even be an option. It made me sick. This was my child and this person was sitting there, across the table, giving me the option to terminate the life that was inside me. The life I had fought over five long years for? This miracle that my womb held? MY MIRACLE? He had the audacity to actually suggest it, especially after giving us every bad case scenario there was. "That is not a possibility," I said after finally getting over the shock that he just suggested I kill my baby because his health wasn't perfect. He then turned to my husband, and shocked me even more, by asking him how he felt about it. "I feel the same way she does," he told him. "The only way we'd do anything of that sort," he continued, "is if Noah could have better chances outside then inside."
He finally asked if we had any questions, and I asked him how big we should expect Noah to be. He told us that he would have low birth weight, even if he went full-term he would only be 4 to 6 pounds at birth, depending on how well he grew inside. As things were going, he was going to be small, and I was thinking he'd be 4lbs at birth, that was the number I had in my head since finding out the news. Our specific conditions inside had some problems. The placenta was small, the fluid around him was low, and Noah was small for gestation. Other then that, they didn't find anything wrong with his heart, or umbilical cord, but would give us no guarantees that there wouldn't be any present at birth. He told me that there would be physical and mental delays. When I said "That's not necessarily true," as I knew from the information I had read off the website, he stressed the point that there would be. Making me feel that he would not be convinced otherwise, it would happen. I felt as if I left there, or went in there for that matter, knowing more then they did.
In November, just a few days after my routine doctors appointment, we had a scare. I lived in denial for four days. I had been feeling Noah move, and then all of a sudden, for 4 days I didn't feel Noah move at all. The first day I noticed but brushed it off. The second day I tried not to notice. The third day I was in denial and prayed he was moving around while I was sleeping. The fourth day I was petrified, but too must so to make the call. Though by the fifth day, I prayed and prayed and then called the doctor. They told me to come in immediately, and I did. The second they put the little microphone to my belly and we heard his heartbeat, found out all was fine, the little stinker decided to become a wiggle worm and didn't stop moving all day. He had several days to make up for you know. He managed to give his mother a heart attack though.
Just a few short days later, on November 17th, the contractions started, and would continue through the rest of the pregnancy, and with-in a month it would start being very noticeable, to the point where the contractions would hurt.
December 7th I had my 6th ultrasound. His heartbeat was 167, the determined that the placenta was smaller then what it should be, the fluid was low, and Noah had asymmetrical IUGR meaning that his brain was getting the most nutrients, then going to his organs, and then to his extremities. He weighed, approximately, 15 oz. Now to put this into perspective, a baby at 26 weeks gestation, should be an estimated weight of 2 lbs.
January is when things calmed down, at first, and then the tiny little holes in that dam, broke. My blood pressure increased, to the danger point. I went in on January 28th for a Non-stress test, where they measure contractions, movement, and heartbeat. During this NST, they lost Noah's heartbeat, which wasn't unusual, but this time, it was a very obvious heart deceleration, and not just the little monkey moving around too much. This was a sign that the conditions on the inside, were starting to become unhealthy. On January 29th,, I went in for another NST, and right away my blood pressure was so high, and they detected protein levels in my urine, and that right there, put me in full diagnosis of a pregnancy complication called Pre-eclampsia, which I had also experienced with my first pregnancy. Not only that, but during the actually NST Noah had several heart deceleration. Before they even let me leave from the office, they gave me the first steroid shot to help mature Noah's lungs, unknowing if he would have to be delivered that very day, or not. I had instructions to go straight to the hospital, no stops anywhere, only there and that was it.
I got there, and once I was admitted and hooked up to every machine they could possibly think of, I was barely allowed to get up to use the bathroom. I was teased with food, and had it taken away because they weren't sure if they would have to perform an emergency c-section. Here I was, 33 weeks pregnant, scared to death, and the end of this pregnancy was looming above us. They gave me 2 other steroid shots to help mature Noah's lungs. Doing an amnio on January 31st, to check his lung maturity. Noah on the other hand, thought the needle was a toy and tried to play with it to which my doctor said "Bad Baby" and the fluid came out a pale yellow, meaning bilirubin was in the fluid. My pre-eclampsia was getting worse, and Noah's heart deceleration were getting worse every sign said, take him out now. The following morning, on February 1st, 2002, my doctor came into my hospital room and told me he was no longer giving me a choice about going to the level three NICU hospital two hours away, I was going, but they wouldn't take the baby until the following day.
I traveled by ambulance to Marshfield, Wisconsin, to St. Joseph Hospital. Admitted and put into a room where I was promptly told I could have nothing to eat or drink, would be getting more blood work done and another ultrasound, my 10th. Then they would determine if they would take Noah now, or later. After doing so, the team came in and told us, they were taking him now. He had to come out.
They prepared me quickly shaved me, put the horrible catheter in. By about 3:15pm I was in the operating room (I had gotten there about noon!) They gave me a spinal. Things went quickly from there... I was trying so hard not to cry. Trying not to think about Noah, but what else is there to think about. The ONLY thing I had hoped for, was to hear him cry. I just wanted to hear him cry and know he was ok!! Next thing I knew everyone is yelling "3:45, 3:45" I didn't know what was going on! Only took us a few minutes to figure out Noah had been born, no one told us. We looked over to the room where he had been taken, a room off to the side of the OR, closed off but with a window of it's own... and there were a bunch of doctors and people in there. We didn't even see him... hadn't even known he was born. No one said "It's a boy" or anything......... and that's one of those things that still kills me to this day. We just wanted to know if he was ok, and didn't know anything.
I was taken back to my room... and we knew nothing. It took a little while for people to start coming in. First thing out of everyone's mouth was what a cutie he was. We were told of specific little problems... micro preemie weight - told to us in grams (that means what?) ... looks good, on the vent - didn't want him to even try to breath so they didn't let him.... had 3 little holes in his heart... and a few other things... Said we (meaning everyone but me) could go see him in about 20 minutes. 4 hours later, Noah's Dad, his Dad's mom, my mom and big brother Calahan finally got in to see him, (after 7pm). Came back showing me one of his diapers, and some video... and told me he was 1lb 12.2oz and 13 3/4 inches. (At a normal 33 week pregnancy, a baby would be around 4lbs and 15 inches.) They gave me some Polaroid's too. My husband and Calahan left shortly after, leaving my Mom with me. We played Uno for awhile waiting for my feeling to come back in my legs. Finally it came back enough that I could move my feet and legs - and so they told me I could go see Noah now... it was around 9:20pm. I tried so hard not to cry when I first saw him. He was SO TINY... just unbelievable..... I couldn't believe it.... just couldn't. "The first 24 hours will tell the difference" I was told..... I had no doubt, he was here, HE WOULD MAKE IT.
I pushed myself the morning after he was born, I wanted to get up and do it NOW because I wanted to go see him. I almost fainted. Came so close I had tunnel vision and couldn't hear a thing. But I did it..... and I was up and walking around the rest of the day. Back and forth to the NICU... Noah did great though!! He came off the vent about 40 hours after he had been born...... the nurses would walk past his bed and stop dead, wondering why this 1 lb baby was OFF the vent. And after a week, he was basically termed as a "feeder, grower" ...
Noah had several problems in the NICU... he had hyperbilirubinsim (his jaundice would keep coming back), he had his heart murmurs, he had some bradys (basically heart decelerations) - mostly the couple weeks before coming home - some of them were not "true" bradys... he had some fluid on his brain they were concerned about, ended up putting me in a panic - but we were suspicious because our friends baby had the same thing, what are the odds of that? It ended up being a temporary ultrasound technician and the normal one who deals with the NICU babies said it was a variation of normal, and they were fine.... they saw his right kidney was enlarged (I don't know if that has gotten better or not) ... he had umbilical and groin hernias... and a hypospadias (his urinary tract went to the underside of his penis instead of the tip)... and he went through other tests for his MT16. We found out the placenta was 100% T16, the blood was 0% T16, they did a skin graph on him, and his skin cells were 30% T16 which is what they found in the amniotic fluid was 30% from the amnio. We are lucky to have him.
We were there 6 1/2 long weeks, and he came home the day after his due date. He came home at 3lb 10oz! Everyone asks me if I was freaked out taking him home then, but I wasn't at all. I had been taking care of him while he was in the NICU - by the time he was 3 weeks old I was doing a lot of what the nurses did. I was there between 8 and 9am and didn't leave until 10 pm usually. A week after coming home he ended up back in the NICU for 5 days, due to a cold. That was heartbreaking. We had just left and there we were again.
Noah has been in the hospital only a few times since, and is doing better then anyone could have or would have expected. He's smart and although he is mildly delayed, mostly just due to his small size, he is doing so well. You wouldn't know looking at him, that anything was wrong with him. So much for that death sentence, that "no quality of life" warning, we were given when he was only 4 months inside. Although anything can happen at any time, and there is always the chance that something could drastically go wrong, it's a fear we have to live with, and not dwell on. This disorder can affect any organ, and you can't test a child's organs for piece of mind. I made a decision, a long time ago when I was first told about Noah's disorder, that I would accept any time I was given with him, even if it was just a few short moments. That is the vow I live by everyday. That is what I concentrate on. Making the life of my child, the best it can be.
I hold a miracle in my arms everyday because I put my trust in God, and not in the medical professional I was suppose to trust giving me information. I am thankful and know that it was technology and many many doctors and nurses who did their jobs so well that kept him alive, doing what they needed to do to get him here safe, and home healthy. Most of all, I thank God, everyday, for the miracle I hold in my arms. I cherish every good moment, and every bad. I never gave up on him, and I never will.