It's really amazing to reflect back on the circumstances that have led us to the point we are at today. Yet, as wild as it has been, I can only describe this journey as one completely ordained by God. So with that being said, here is how it all began.
In October of 2008, my husband and I began to see a fertility specialist to help us determine the reason for my long and sometimes absent cycles. I was quickly diagnosed as having polycystic ovaries and was put on fertility drugs to help regulate ovulation. I went through 3 cycles of this drug and all were successful in ovulation, but none succeeded in producing a pregnancy. At this point, I was beginning to think that my dream of having a second child was ending quickly. I could not afford to do IVF, and the medication route was proving to be a dead end. After the 3rd failed cycle, the doctor switched me to a different fertility drug to see if I would respond better. Again..this only led to successful ovulation but no pregnancy. The reality of never having a second child was really starting to take a grip, and the emptyness I felt was really beginning to eat away at me. After meeting with the doctor, it was decided that I should have some further testing done to determine if I had blocked ovaries which may prevent fertilization. I was to call and have it scheduled with the upcoming cycle. Well, I called, but somehow the paper work never made it through in time to have the testing done during that cycle so I was going to have to wait until the next cycle. This was in March of 2009.
April 6th, 2009- Although I was not currently on fertility drugs, I was still keeping track of my cycles. So on April 6th of 2009 I was officially late for my cycle and decided to take a test just to see. And tada..I was pregnant. I was so excited and couldn't wait to tell my husband. I completely felt that this was a miracle of God. We had been trying to conceive for 18 months and it finally happened. I called the fertility clinic who then immediately brought me in for blood work. Having conceived one child already, this was an entirely new process for me. I was told that my initial bloodwork showed positive results for pregnancy, but I would need to return in 2 days to have it tested again to see if the numbers were rising..Again, this was all new for me. What happened to the good ole days where if your test showed positive, that was it?
So two days later, I returned and my results showed that my HCG levels were rising so now a viability scan was scheduled. I was told that in order for this pregnancy to be considered viable, a heartbeat had to be found.
April 13, 2009- I show up for my ultrasound with much prayer and hope that a heartbeat would be found, but with a nervous energy that I would leave with shattered dreams. As the doctor is doing the scan, I hold my breath waiting to hear the answer. As my gut instinct told me, he said, "I see a sac, but I can't find a heartbeat." He did say that it could be too early and that I needed to come back in a week and have another scan to see for sure. If there was still no heartbeat, then I would have a reason to be concerned. So I was rescheduled for another ultrasound.
April 17,2009- I return to face the machine again. This time, I am even more hopeful that a heartbeat will be found. And as my instinct told me, the doctor said "Here's the heartbeat." I was so relieved. But then he said, "It looks like there is another sac in there." He scrutinizes the screen and takes pictures, but he said he just couldn't say for sure so he wanted to see me in another week to take another peek. So I left the office with an entirely new set of worries, is there one or two?
April 24, 2009- I again return for the second look. The doctor immediately finds the heartbeat again, but it is at the same rate it was the week before. I mention this to him knowing that the heartrate should be increasing, but he says not to worry. Yet he still thinks there is a second sac but that it looks empty. He decides he wants me to go for a second opinion at about 8 weeks because it should be very clear if there is one or two at this point. So I am scheduled to have another ultrasound.
May 9th, 2009- I show up at the hospital to have another ultrasound to confirm if there is one or two babies in there. If you have had any experience with an ultrasound tech, they are not allowed to tell you anything so I did my best to pry answers out of her. She said she did not see a second baby, but that the one she could see had a good heartrate. So I left knowing that I had one viable pregnancy and could begin the exciting journey of preparing for this little one. I was then released to go to my regualr obgyn.
I decided at this point to go with a different obgyn since I was not pleased with my previous clinic. After contacting the new facility and finally getting scheduled for an appointment, I was almost 12 weeks pregnant.
I met with my new doctor, went over all my confusing reports from the fertility clinic, and discussed my prenatal plan. Being only 29, I was not considered high risk, but I was offered the option to have a NST scan done at 12 weeks. I had been on many pregnancy forums and was told that you got to have an ultrasound with an NST, so I couldn't resist the urge to take another peek at my little bean. I opted to have it done.
June 2009- Around the 1st week of June, I was scheduled to have my NST scan done at hospital in Charlotte, NC. When I was taken back to the room, I was so glad I ended up there because the facility was great. After reading the paper work and having the procedure explained, I suddenly became very nervous. They would be measuring the neck fold of the baby as well as some other parts of the baby to assess my risk for having a child with Down Syndrome, Trisomy 13, or Trisomy 18. I was quickly thrown into the reality of what this test might reveal, and my desire to have another peek at my little bean seemed not so important anymore. As I lay there, the ultrasound tech took all her measurements and said everything looked great. I was relieved and left with some great photos of my little peanut. I was happy. A few weeks later, my results were mailed to me showing normal findings with the NST.
July 2009- I continued the standard prenatal care and was anxiously awaiting the next ultrasound to be done at my obgyn so I could find out the gender. It was scheduled and my husband and I planned to take our 5 year old daughter so she could see the baby.
July 16, 2009- Off we went to the doctor with only hopes and dreams of what color the nursery would be and what names would we like the most. As I lay on the table for the ultrasound, I watched the ultrasound tech maneuver around and take many measurements. She was not talking very much, and I noticed that she kept taking repeat measurements of several parts of the baby. Now it had been 5 years since my last experience with ultrasound, but I quickly began to think that she was not being silent just because she was non social. She also knew we were waiting to hear the gender and my daughter was getting ancy to leave. She continued to take many measurements and my instinct was telling me that she was seeing something but I just couldn't figure out what it was. She finally did a quick scan of the baby's bottom, revealed it was a boy, and quickly got up and said, "I'll bring you pictures back in a minute." I knew then that something was not right. THe tech returned and gave me a few pictures and said to have a seat outside the doctor's office. My husband and daughter left to go back to the waiting room. The tech then went into the doctor's office and shut the door. I definitely knew then, that what was being said behind that door was not how beautiful my baby was, or that everything looked great. A few minutes later the doctor called me in and asked the nurse to bring my husband to the office too. My stomach turned and I could feel my adrenaline rushing. And so it began..
"This is not the news I was expecting to give to you today."
"The baby's heart looks rotated."
"The baby's femur bone is measuring behind."
"You have 2 markers for Down Syndrome."
"One good thing is your NST scan shows a low risk."
"You will need to go for another ultrasound at a high risk facility."
" There are many things that can cause these results."
Oh the flurry of thoughts, the rush of adrenaline, the sudden feeling of doom..I couldn't handle it and I broke into sobs. I wanted to know now exactly what the problem was. I needed answers, but I was told that the office would be closed until the following Monday. I honestly thought I couldn't wait that long. So my family and I left that office in total shock and devastation and I left my dreams of having a healthy baby laying on the ultrasound table.
At home, I couldn't eat, sleep, or do anything but cry. I needed answers and all this unknown was ripping me apart. On Friday morning, I received a phone call from the doctors office. The lady said she knew that the Level 2 ultrasound office was closed until Monday but that she could try and schedule me with the clinic in Charlotte that I went to for the NST scan. I jumped at the chance and thought to myself..only God can open doors like this..he knows my heart. She quickly called me back and said I was scheduled for Monday afternoon. I cannot express to you what that weekend was like..Some moments I was a complete basket case, other moments I was a zombie, and sometimes I was so overwhelmed I just couldn't think straight. Of course I also spent considerable time researching the internet trying to find the answers myself. None of which brought any sense of peace or calm to my life. So on Monday, we go in for the level 2 ultrasound. After having the ultrasound done, the doctor explains that she doesn't really see anything significant that would be cause for concern. I asked about the heart and she said, "well he is not giving me text book pictures, but I really don't think there is anything to be concerned about. I will schedule you for a fetal echocardiogram just to rule out all possibilities." I asked about the femur bones and she said "Well it measures about a week behind, but unless we find other markers, I don't consider the femur bone an accurate tool for diagnosis." I then asked about an amnio..At this point the genetic counselor came in and explained that I had no medical reason to have one done so I would probably have to pay out of pocket. She then explained that my NST risk assessment and ultrasound results gave me a .033% chance of having a baby with downs, trisomy 13, or trisomy 18 and that an amniocentesis carries a .367% chance of a miscarriage. She also reassured me that there was nothing that indicated to them that there were problems and reminded me that I was in a facility that looked at nothing but high risk patients. So I was relieved for the most part. I opted to not go through with the amnio and my fetal echocardiogram was scheduled for a few weeks later. I praised God that all was well.
August 2009- I return to Charlotte to meet with the fetal echocardiologist. He does an ultrasound of the baby again, and quickly turns to me and says "I think they are right in that your baby has a heart defect, but it is one that can easily be fixed. Let's talk about it in my office." So down the emotional roller coaster I go again. We are then informed that what he suspects my baby has is a rare heart condition called TAPVR or Total Anomalous Pulmonary Venous Return. He says it is fixed in one open heart surgery procedure and he suspects that my babies procedure would not need to be performed immediately. He did tell me that I would now have to deliver at that hospital which meant switching obgyn's again, but he made everything seem so simple and not a big deal that I was really not concerned. I left the hospital with a pretty good feeling.
But then I got home..I sat down and remembered the doctor telling me that if the baby had a heart defect, his risk of having chromosomal abnormalities would increase. I immediately was devastated. I just felt that this was inevitable. Over the next few days, I spoke with the genetic counselor and cardiologist and discussed my concerns. Both assured me that this was not a defect found in babies with downs, trisomy 13, trisomy 18. But I wanted confirmation, I just knew I needed to know for sure. The genetic counselor informed me that since there was now a heart defect, I could have an amnio done but it needed to be done quickly since I was getting closer to the time in which doctors did not do them. The discussion with my husband proved to be much more difficult than I thought. He is a numbers man and I am a realist. Statistically, he just couldn't justify taking a risk of miscarriage when my risk of a baby with chromosomal abnormalities was so low. I completely understood, but my point was that IF there was something wrong, I needed time to mentally prepare myself for the journey. I just didn' t think I could handle having another stick thrown into the fire when the baby was born. I felt having an amnio was important for my mental sanity. I completely respected my husband's viewpoint, but I was so anxious inside that I just couldn't let it go. We met with the genetic counselor again and discussed the options, weighed the risks, and heard each other's side. We were at a standstill, but finally agreed to go through with it. The procedure went well and I had a busy weekend and upcoming week to help pass the time for the upcoming results.
THe following week, I received the initial results for downs, trisomy 13, and trisomy 18 and all came back negative. I was relieved. She said that the other results would be back in about 2 weeks but those were abnormalities that were much more rare.
Two weeks later I got the call: The results showed that the baby's cells had an extra fragment of a chromosome that was in every cell.
*This could be something that my husband and I carried, and if so, it would carry no significance.
*This could be something completely new, but still carry no significance.
*This could be something completely new, and be related to a specific syndrome but the chromosome had to be identified.
Regardless, I just couldn't believe what I was hearing. I mean, less than 1% of babies have something like this. So of course I began researching what chromosomal abnormalites were related to the heart defect. Immediately I found Cat Eye Syndrome. I just knew that had to be a possibility.
The genetic counselor called and confirmed that neither my husband nor I carried that fragment so this was something completely new in the baby. She also confirmed that it was either Chromosome 14 or 22 and that if we wanted to go for further testing it would have to be shipped to Washington State. We opted to go through with this testing. Meanwhile, I mentioned Cat Eye Syndrome to the genetic counselor. She said she had looked it up and discussed it with the geneticist, but he wasn't sure that it was that. In my heart of hearts, I just knew it had to be. How can you say it is not Cat Eye Syndrome when it comes from a fragment with chromosome 22 and the heart defect most commonly associated with this syndrome is TAPVR? It just seemed to fit. Well after a month and half of waiting, I finally received the phone call with the final results.
October 22, 2009- I decided to ride home with my husband from the volleyball game. (I am a head coach of a varsity team.) Again, this proved to be another decision led by God. It was something I never did, but I wanted to spend some time with my daughter. On the way home my phone rang, and it was the genetic counselor. And again, my gut instinct was confirmed. The fragment was confirmed to be the section of chromosome 22 associated with Cat Eye Syndrome. I was more numb than anything. Here I was so close to the end of this pregnancy, and I was just now finding out what I knew all along. I looked at my husband and explained everything she relayed to me and the car went silent. I didn't know what he was thinking, feeling, nor did I know what to say myself. Once home, the silence continued. I wanted so bad to know what he was thinking, but I wasn't sure how to approach it. He had watched me cry, scream, and shout, doubt God, be angry with God, and question everything and everyone, even my own existence and he always remained solid and optimisitic. Now here I was with no emotion, and I wondered if he was just waiting. Waiting for the next bomb to explode.