Diagnosis

Many of you have left comments or have e-mailed me asking what, exactly, was Isaac's diagnosis. In an effort to answer your question, I thought I would give a "reader's digest" version of our story.

Our story actually begins on Labor Day of 2007, when I found out I was pregnant with our first child. Having conceived very easily, I was blissfully optimisitic that clearly, on or about May 9 of 2008, we would welcome our first little one to the world. Of course, we called our parents right away, marked the baby's due date on the calendar, and started thinking all about the "next times..." the next time we go to the beach we'd have a little one with us... and so forth. My first few prenatal appointments went well, and I remember both hearing and seeing our baby's heartbeat for the first time. I also remember asking my doctor what the risk of miscarriage was once we had heard the heartbeat, and he told me that it was extremely low... less than 1%.

So I was surprised one Friday afternoon when the kind ultrasound tech called and wanted me to come back in to double check a few things that didn't look quite right on a previous ultrasound a few weeks earlier. She said it was more of a peace of mind thing than an actual concern. Nonetheless, I was terrified. Spencer met me there, and we were blindsighted by the news we received: your baby's heart has stopped beating. That was November 2, 2007. At 13 weeks, my child was no longer with us. We later found out that this baby had triploidy... a whole extra set of chromosomes. The concern that was seen on the ultrasound photos? An omphalocele... and if you remember anything about Isaac, this should sound familiar. However, we were told that the omphalocele was simply a marker of this baby's genetic abnormality.

We waited the couple of months my doctor recommended and then, again, got pregnant easily. I remember taking a pregnany test "just for kicks," thinking that this wasn't our month at all... I was wrong. So on February 26, 2008, we learned that we were expecting Isaac. Again, I was excited, but much more guarded. I remember calling and telling our parents, but we decided to wait much longer before telling other people. I did share the news with one close friend, mostly because I was just really scared and really nervous, and needed a girlfriend in which to confide and with whom to pray.

The first few weeks went off without a hitch. I felt a little more nauseous this time, which was very welcomed because it was a marked difference from my first pregnancy in which I didn't feel nauseous (or really anything) at all. We saw and heard Isaac's heartbeat, and everything seemed to be going well.

In late April, I went away to New York with my mom and sister for the weekend, and the whole time just felt like something was"off." I don't know how to explain it really... but I just noticed this weird drop in any pregnancy symptoms. I was about 12 weeks at this point, and thought it could have simply been my symptoms tapering; but because of my previous experience, I wanted to be sure.

So, I called the doctor and on April 21, went in for a heartbeat check. Spencer met me there, just as I was being called back. The nurse couldn't find Isaac's heartbeat on the doppler, so they very quickly sent me for an ultrasound. I remember asking the tech if there was a heartbeat and she said yes, but she seemed very concerned and preoccupied with other things she had found. She asked if we had had our first trimester screen yet, and I explained that we hadn't, and hadn't really planned on having one. I then asked her if she noticed anything that was cause for concern and she said, "Oh, yes..." and turned the screen for us to see. Now I am not one who can usually make out what is on the ultrasound screen, especially early in pregnancy; but there was no mistaking the large cystic hygroma she pointed out around Isaac's head and neck (measuring to the tune of almost 9mm), or the omphalocele by his abdomen. We met briefly with my doctor, who immediately referred us to a genetic counselor.

As we sat and talked with the genetic counselor, my head was spinning... we were hearing things like "5-10% chance of viability" and "even then we wouldn't know about this baby's quality of life..." She took our family history, we talked about what these markers could be pointing to, and she recommended that we have a CVS test done to check Isaac's chromosomes. So we did. And it hurt like crazy.

A few days later, we received the preliminary results that Isaac didn't have Trisomy 13, 18 or 21, and the more thorough results we received about a week later indicated that all of Isaac's chromosomes were normal, and that we were having a little boy. We were so excited... excited that there wasn't anything genetically wrong with our baby, and excited that it was a boy.

We had additional visits with my doctor, and then had our first fetal echocardiogram. Since I was only 17 weeks, it was difficult for the cardiologist to see very much, so she recommended that I go for another one in a few weeks.

During this time, we prayed and prayed... we had learned that Isaac's cystic hygroma had shrunk and praised God for it; we continued to pray that Isaac's heart, brain, lungs, limbs, and everything else would be developing normally. At this point, I truly felt like Isaac was going to be okay in the long run... that he may require some surgeries shortly after birth to correct the omphalocele and that it might be a long road, but I really thought this would all be fixable.

In late June, at 20 weeks pregnant, we went to Children's National Medical Center for our "marathon" day of tests, including a fetal MRI, another fetal echocardiogram, and an in-depth ultrasound. This is the day our lives were changed, our mindset was thwarted, and we learned that things were not at all as good as we were hoping they'd be.

The good news was that Isaac's heart and brain looked normal, as did his limbs. But the rest of the news we received was devastating... the omphalocele contained all of his intestines, his liver, and several other organs. In addition, his spine was severely curved (termed "kyphoscoliosis"). consequently, his chest cavity was extremely small, and he wasn't developing the amount of lung tissue that he should (termed "pulmonary hypoplasia" or "hypoplastic lungs"). We met with several doctors, including a pediatric surgeon, who essentially told us there was really nothing they could do for Isaac. With his chest being so small, there wasn't even really room for lungs to develop, and with his spine being so curved, there really wasn't a way to repair the omphalocele. That day, we were essentially told that our son was going to die... perhaps in utero, perhaps at birth or shortly thereafter.

Many of the dotors with whom we met encouraged terminating the pregnancy; that was never an option for us. Isaac is our child and he deserves a chance at life, just as anyone else. We also know that God is a God of miracles, and that He is bigger than medicine and could change all of this if it was His will.

And so as we continued the long road of many doctors appointments and ultrasounds, we prayed... prayed for Isaac to be healed, prayed for the chance to enjoy seeing Isaac on the ultrasound monitor, prayed that Isaac would be born alive... but over and over again, prayed for a miracle.

During those months of appointments, we learned of other smaller complications, like how the omphalocele was adherent to the placenta and therefore Isaac was sort of "stuck" in a transverse position; we also learned that because Isaac wasn't able to move around freely, the umbilical cord never really had a reason to grow very long, and only measured around 7cm.

At about 33 weeks, I ended up in the hospital having contractions, and thankfully the doctor was able to get them to subside with a few shots of terbutaline. I remained on an oral form of the terbutaline for the duration of my pregnancy. Because of this little scare, my doctor decided to move up my c-secion date by 10 days... this was also devastating to me. I knew that Isaac was safe inside me, and truthfully I didn't want to have to give up 10 days with my son. But, I also recognized the importance of my c-section being carefully planned with all of the right people there, and so an emergency c-section situation wouldn't have been good for anyone .

On October 7, our beautiful sweet Isaac was born at 8:33 am and was alive and with us until 8:49 am when he went to be with Jesus. He was so peaceful the entire time... never struglled or appeared to be in pain, and we are so, so grateful for that. We were so fortunate to have family and close friends there to meet him, to have a wonderful nurse who helped us make lots of memories with him, and a talented photographer who took hundreds of pictures. We got to hold and just love Isaac for as long as we wanted. Saying goodbye to him that night was the hardest thing I have ever had to do; but I wouldn't trade anything for the chance to have gotten to meet my son, and to love him for his entire life... snuggling with him, telling him how proud I am of him, how much we wanted him, and how much we love him.

And so the diagnosis? "A sequence of giant omphalocele, kyphoscoliosis, and hypoplastic lungs, severe." Essentially, the neonatologist's assessment is that the omphalocele was so large that as Isaac's spine grew, it sort of had to grow around the omphalocele (which was sort of pulling him forward). She called it a "deformation" of the spine rather than a "malformation." These two issues, in turn, caused his chest circumference to be so small that he wasn't able to develop enough lung tissue to breathe on his own. We have been told that this was an extremely unfortunate random thing that occurs at 4-6 weeks gestation, that it is not genetic, and that there's no reason to believe it will happen again. I sort of can't get past the fact that an omphalocele was present with both my first pregnancy and with Isaac, and this is definitely something I want to bring up with both my doctor and the genetic counselor.

So in the end, we're left with having found the narrowest odds, and to be honest, that sometimes makes me really angry. I don't like the fact that my child was the 1 in 10,000 (the occurance of a giant omphalocele) and that the other complications made it so that surgery wasn't an option.

I guess the bottom line, though, is just that I miss my son terribly. I had thought that having so much foreknowledge would have better prepared me for this; but the truth of the matter is that it didn't. It allowed us to be prepared on October 7, but nothing can prepare you for the depth of the heartache of losing a child.

I don't really know anything different to ask you to pray for today... it's all the same, really... For peace, for comfort, for God to be near to us (when truthfully I feel really abandoned, even though I know I haven't been). Please also pray for us as Spencer as he goes back to work tomorrow... this is hard both for him to be getting back into the grind, and for me, as I am pretty resistant to wanting anything to go back to "normal." Please also pray that God would begin to restore our joy and our hope in the midst of our brokeness.