Initial Indications and Diagnosis

As all expectant parents are, Tommy and I were so excited to share our news with our friends and family but also a little hesitant based on our past experiences. Therefore, we decided we would wait until we hit that ten week mark before we told anyone. So at Christmas, Rocco paraded out in front of the family with his "I have a Christmas secret...I'm gonna be a big brother!" t-shirt. The first weeks of my pregnancy had gone off without a hitch. I am one of those hated women that doesn't seem to be affected by morning sickness (at least with my two boys...I am sure my first pregnancy was girls and I was sick as a dog every morning), and all of my hormone levels and bloodwork were reading perfectly. We were celebrating one of the greatest holidays of Christianity with the knowledge that a new child would be joining in the celebrations next year, and it made the season extra special. I was scheduled to go to the maternal-fetal specialist for my first appointment with them on January 9th. We bopped into the waiting room that morning feeling like old pros. It hadn't been much more than a year since our last visit there, and we felt like we knew more of what to expect this go around. Boy, were we wrong!

At each appointment, the very first place you go is to ultrasound. I was so excited to see our baby again! We had already had two ultrasounds at the fertility specialist, but the baby is too small to even see anything during those times. So in we went with hopeful expectations. Right away we knew that something looked different than it had with Rocco. There was a large mass in the baby's abdomen that just seemed a little too big. A black mark on the screen. The ultrasonographer pointed out that it was the baby's bladder and it seemed a bit too large for the baby's gestational age. After looking over everything else, it appeared that the baby was fine, and after speaking with our doctor it was determined that we would be put on a week by week visit schedule for close monitoring for the next few weeks. Alot of times these types of things will correct themselves, especially when discovered so early in the pregnancy (keep in mind that a "normal" pregnancy wouldn't have an ultrasound until 20 weeks, and I believe I was 13 weeks at the time). So we went home, small worries in our heads, but prayers in our hearts for the healthy baby that looked so perfect on the screen.

As the weeks passed, the bladder appeared to be stable. Our doctor had taken us into "the room" (every parent that has had some type of unpleasant news delivered knows what "the room" is), and we discussed possibilities very early on. We were told from the very beginning that there could be a possible blockage from the bladder to the kidneys, which could in turn cause renal failure which could lead to death. We were also told that it could be something that is seen quite frequently that might need to be followed up by a pediatric urologist after birth, but nothing life threatening. The possibility of a chromosomal disorder was given, but honestly I don't think anyone ever gave any homage to it. My doctor honestly believed that this was something that was going to stabilize and be ok throughout the pregnancy, and I was right there with him. Who even expects that a 28 year old woman would have a child with a chromosomal problem? I know everyone knows that the older a woman gets before having a baby, the higher the risk, but at 28 I kind of felt like I was at the perfect age. (Let's be honest, in today's society 28 is like the infancy of birthing women, and toddlerhood at the latest! It was only after Lincoln's diagnosis that I found out that the average age of a mother of a child with Trisomy 13 is 31.) So home we went, still feeling like there really weren't any problems. Tommy and I know that we breed little fighters, as Rocco still holds the record in the NICU at Children's Hospital for number of pacifiers thrown out of his crib and the farthest throw. Yes, you read correctly that Rocco was a NICU baby. Although he was born a week early, he was quite mature and weighed 8 and 1/2 pounds. Apparently his little systems were ready to go before the labor was, and he had a bowel movement while still in the womb. Therefore, at birth, he aspirated meconium, which caused him to have a collapsed lung. When he was born he was immediately whisked away and intubated. We didn't even get to hold him or see him. I tell you this for two reasons. One, to demonstrate what a little fighter he is, and still is to this day. (Boy, he has a temper and a stubborn streak. I have NO IDEA who he gets that from!) And two, because I wanted to tell you about my dream.

Right after I became pregnant with Lincoln I had a dream that I delivered a beautiful baby boy that looked just like Rocco but with dark hair. He was wrapped in a blanket and I was such a proud momma holding him up for the family to see how beautiful he was. That was it. It was perfect! I remember thinking right away that I hoped that I could hold this child immediately after birth the way I didn't get to hold Rocco. And I knew from the beginning that Lincoln was a boy. I never even had picked out a girl's name or considered one, because I just knew. And after that dream, I felt a little peaceful about the fact that everything was going to go smoothly in this pregnancy. Looking back, I now remember that I took that visual and made the tagline "healthy baby" in my head because I was able to hold him and he was so beautiful. At the same time, I never really felt the same about this pregnancy as I did with Rocco. It is really hard to explain. There was never a feeling of doom, just a little inkling in the back of my head that maybe something wasn't all the way right. After we had that first doctor's appointment and noticed the enlarged fetal bladder, I figured that was what it was and now I could put that feeling behind me and concentrate on how we could help Lincoln get better. But for some reason, I couldn't shake it. I think God was trying to help prepare me mentally for what lay ahead, but at the time I didn't want to listen to anything like that. There were even a few people that I love that I started screening calls from, because I knew they would only talk about worrying over things, and I just didn't want to hear it. I only wanted to think positively and pray for the health of my child. But then I had another dream. This time, I was being chased. And it felt like I was being chased by evil and demonic things. Very disconcerting, but also a relief that I wasn't "caught". I didn't have any crazy analogies for this, only that pregnant women often have crazy weird dreams. And I have always had crazy, weird, surreal, very vivid dreams regardless. So I didn't really think anything of it. Then the craziest thing happened. When I was about 18 weeks pregnant Tommy and I returned home one evening to find a message on our machine. A random caller wanted to purchase our home. What?! We had had the home on the market the prior year, but hadn't had any luck, so we had just decided to stay where we were for another few years. We had a new baby on the way and that just seemed like alot to take on. However, Tommy being Tommy, called the people back and told them that everything was for sale at the right price (you see, we own property down the street from my parents and have had dreams of building our home for several years). Surprisingly, the people came the next day to see the house, then made a full price over and accepted all of our terms. We couldn't believe it. I think I lived in a daze for the next three weeks while we packed away everything and prepared to move in with my parents. We planned to live with them for roughly 9 months to a year while we built our house. I can't tell you how many people said "Wow! In this economy someone randomly called to buy your house? That is a God thing!" Well, it definitely was a God thing. I remember about two weeks after signing the contract calling my mom to confess a dirty little secret. I told her that I couldn't help but feel that since we were moving in with her and dad that it must mean that there was something terribly wrong with the baby. Being the nurturer that my mom is, she assured me that it wasn't the case and that I was just hormonal. Still, the uneasiness was there. When the time was rolling around for my 20 week ultrasound (the big-daddy one where they do all of the anatomy measurements), I was feeling pretty confident. We had had an ultrasound every week up to that point and the fetal bladder had been looking better and better. In fact, my husband had to work the night before the ultrasound and I told him to just stay home and sleep. He had just worked a 12 hour shift and was dead on his feet, and because we had no reason to think any differently, I told him the night before to just come on home and go to bed and I would call him when we left the doctor's office. That night, I had the same bad dream again.

The next day, my mom and I went to the doctor. I laid on the table while the ultrasound was done and watched my little man on the screen. Note that at this point they still weren't able to tell me if my baby was a boy or a girl. This was a slight reason for concern in the weeks leading up to this because of the bladder and urinary issues that were present (apparently more common in boys). At the 20 week, they said they still couldn't tell. This was strike one. Strike two was the ever present slightly enlarged urinary bladder. Strike three was a condition called micrognathia, which had been mentioned the previous week, but wasn't anything very concerning. It is basically a small jaw, and is apparently quite common and can be fixed with surgery. Strike four was a two vessel umbilical cord instead of the normal three vessel cord. Again, previously noted, but the strikes were starting to add up. The ultrasonographer measured the baby and he was so big! Everything was measuring on track or big for age until we got to the cerebellum. I took anatomy and physiology in school, so I know enough medical language to be dangerous. When I saw her notations I knew that the abbreviation meant cerebellum, and I knew that it was measuring smaller than it should be. About four weeks small to be exact. She didn't say anything, so I just went ahead and blurted out that I knew something was wrong. She said a part of the brain was measuring a little bit small, and that we'd need the doctor to take a look. When she left the room, I broke down. And wept. And I knew. I knew that something was wrong. After the doctor came in and looked, we had to go to "the room" again to speak to a geneticist. At this point, I was in a daze. I had the piece of mind to say that I needed to call Tommy and get him on speakerphone. Although I hated to call and awaken him with such terrible news. But he needed to be a part of this conversation. It was at this point that an amniocentesis was presented as basically the only option to really determine what was actually going on with the baby. With all of the little things coming together, it appeared that a syndrome of some type might be the underlying cause of all of these factors. Tommy and I have always denied early pregnancy testing because it didn't matter to us, and it still didn't matter this time except to determine if something was going on and how we needed to prepare to care for our child. An appointment was scheduled for the next day.

When I got home Tommy and I cried together. No parent can fathom that something might be wrong with their child. I had asked the geneticist to be straight with me and tell me if our child's symptoms aligned with any of the possible syndromes that would be tested. She said right away that although this was in no way a diagnosis, the symptoms aligned with Trisomy 18 or Trisomy 13. When I heard Trisomy, I begin to think in terms of Down's Syndrome, which is Trisomy 21. I could handle that. There would be struggles and ups and downs, but Lincoln would be ok. Then, I don't know why, but out of my mouth came the words "what is the life expectancy?". That was the blow that really took my breath away. Often fatal. 50% die in utero. Of those that make it to birth, 50% are stillborn. Of those that live more than a day, or a week, or two weeks, 90% die before their first birthday. It was too much to take in. Looking back, I really felt like I was in the twilight zone. I think the room started spinning and everything she said was a blur. How could it be possible that the baby that I felt moving and kicking so happily inside of me might be so sick? We cried ALOT that day, but then we stood up and said enough is enough. This is our child. We love him no matter what, and we trust that God has a plan for him. No more tears. It sounds silly to think of it and even sillier to write it, but I actually laid down this law with my parents. I had cried myself out. I didn't want to live the next two weeks awaiting results in doom and gloom. I had the light of the world living in my heart, and I was going to be hopeful and in prayer about my baby. I believe God gave us medicine, but I also believe that He is the great physician, and He can heal any ill at His word. And I was gonna stand on that. I don't know how I even made it to that point, but when it came I was ready to grasp it. As a good friend would say, that is just Grace. I scoured my Bible for verses about healing, and miracles, and faith in the storms and struggles of life, but one verse kept coming back to me, and it was one that I had clung to throughout the entirety of this ordeal: Psalm 56:3 "When I am afraid, I will put my trust in you."  And I was afraid. More scared than I had ever been in my life. But I knew I was in the best possible place that I could be. And in that time, in a very dark place, God granted me some peace.

The next day, we went in for the amnio. I was a little apprehensive about the procedure, but it was a piece of cake. All of the nurses seemed to smile at me a little extra brightly that day. I am not sure if they all knew the situation or if it was my imagination, but I smiled back and told them I was ok. My doctor and the ultrasound tech from the day before commented on my attitude. I told them the no cry rule (which I had to remind mom of during the procedure), and that I had a hope that was grounded on my faith in Jesus Christ. I am blessed to have doctors who are believers, and I know that they were in prayer with me for good results. The procedure took about 2 minutes, and now the wait would begin. It could be anywhere from 8 to 14 days to get results.

I got the phone call on day 10. We had been given the option to hear results by phone or get the call that they were in and drive downtown to the office. I think the drive would have been horrendous waiting and anticipating, so I chose to hear by phone. I think I knew somewhere somehow that the results weren't what I was hoping and praying for. When the call came the geneticist told me right away. I was so grateful that there weren't any ridiculous lead-ins or anecdotes, just the diagnosis. My first question after that was about gender. My initial intuition was confirmed that he was indeed a boy. Let me say that my doctor's office was incredible throughout this time. The entire staff are so empathetic and I know they truly care about me and my baby. If I wanted to come in, they would arrange it. I just needed to tell them when and where. This was a Thursday afternoon. I already had a Monday appointment scheduled, and I just needed some time to soak it all in. Besides, it wouldn't change the diagnosis. Full Trisomy 13 (47, XY, +13). In the medical world, a death sentence. In a God world, a sweet little miracle that continues to kick his mommy even as she types, who is perfect and beautiful in the eyes of his parents and his Creator, the one who made him PERFECT in all regards. A child that is making an impression upon the world already, as his story is shared with others and touches lives and hearts. A child who will leave his mark on the world regardless of the time he spends in it, as his mommy and daddy have already seen lives changed and miracles happen because of his sweet existence. It's hard to describe at this point of the story my feelings of being blessed. In my darkest hour, God reached down and blessed me. Lincoln has already taught me what it means to love truly unconditionally, to trust in God's plan, and to believe the promises that He has made to us. Every day I still pray for a miracle of healing for my son. I pray that he will be born with a perfectly matching set of 46 chromosomes in every cell. I pray that I will get to watch him grow and play with his big brother, to see him score a touchdown, to watch him graduate, get married, and have children of his own. I still pray for these things because I believe that if God intends to make that Lincoln's story, then He can. I know the reality of the situation, but I am trying not to dwell on it. I just pray for time, and what is best for my sweet boy. And that others will see that Lincoln's life is NOT in vain, and that it has a purpose and a reason. He was made PERFECT and is PERFECT. And I am anxiously awaiting the day of his birth, when I can hold him firmly in my arms and tell him how loved and cherished he is.  I am blessed to be able to say that I am Lincoln's Mommy.