Sad Week

P and I have had a rough week. I got a phone call on Tuesday from my OB/GYN asking me to call him, but that it was "nothing serious". When the doctor himself calls, you know its serious. I called the office, and he was out, but he called me back from his cell phone - again, a sign of it being serious - to tell me that my AFP came back abnormal and that Toot was at a significantly increased risk of Trisomy 18. There are 1:3000 children born with Trisomy 18 every year; our risk had increased to 1:40. He recommended an amniocentesis and told me not to panic. HA. I immediately called P and asked him to come home. Then I found the Trisomy 18 foundation's website and cried my little heart out. Trisomy 18 is basically a lethal diagnosis for your child. Most children don't even make it to birth; those that do typically die within minutes, hours or days. Less than 10% live until they are 1. I was literally stunned. I'm young, healthy, P and I aren't related, how could our baby possibly have this disease? It just doesn't seem fair ...

I spent the next few days alternating between being incredibly sad, and hopeful that everything would be okay. My doctor's office was great, and set us up with an amniocentesis on Friday. The amnio carries its own risk, with miscarriage being the most frequent complication. P and I spent hours talking about how to make this decision. We ultimately decided that we needed to know. We just couldn't see ourselves going through the next 5 months not knowing if our baby was going to live or die. So, we had the amnio.

Friday was maybe the longest day of my life. Our appt was at 9:45, so we got up early and were there in plenty of time. They did a level II ultrasound prior to the amnio to look for characteristics of Trisomy 18. During the ultrasound, we learned that Toot is measuring very small. I thought I was 18 weeks along, based on a LMP of August 11 and a due date of May 18. But, according to all the paperwork sent over by my OB/GYN, our due date is actually May 28. At our first ultrasound, Toot measured small so they changed the due date but I apparently didn't realize it. Based on the May 28 due date, Toot should have been measuring 17 weeks, 1 day, but was only measuring 16 weeks, 2 days. Small gestational age is a sign of Trisomy 18. According to the doctor, everything else looked okay, but it was hard to get a good enough look because of how small Toot is :( He also told us that based on the blood work, Toot is at risk for Smith Lemli Opitz syndrome. That too is a genetic disorder with a grim outlook.

I am trying so hard to stay positive, but at the same time, am so afraid of what we will find out. Trisomy 18 is horrible, and I would hate for Toot to have it, but at the same time, I don't want he/she to have Smith Lemli Opitz either. I can't imagine seeing your own child struggle with developmental disabilities, not being able to ever be independent. It just is almost too hard to fathom. You spend your whole life dreaming of a happy, healthy baby. Then you actually conceive, a miracle in it's own right and you just can't stop thinking about the future. Everything immediately becomes about the baby. You imagine the endless possibilities that await your precious child and to find out that may not happen is just heartbreaking. I feel like my heart is literally aching. It hurts to just exist right now.

I think the hardest part is waiting. They did a FISH test with the amnio, so we might know something as soon as Tuesday. But, our doctor told us that it's not 100% reliable and not to "bet the ranch" on the results. P and I know that no matter what, we're not going to change anything. Terminating the pregnancy is just not an option for us. I think God has a plan, and in these last few days, I've prayed more than I have in a long time. In one sense, I have this weird calm that everything will be okay. And I know, no matter what happens, P and I will be okay. If anything, these last few days have showed me that our love and our marriage is stronger than I could have imagined. We have each other, and will get through this. Our families have been incredible. I called my mom the night we found out, and she has just been amazing. She and I had gone through a weird spot in our relationship a few months ago and now it all seems so stupid. I wouldn't have gotten through these last few days without her love and support.

While part of me has that sense of calm, the other is right on the edge of panicking. It's like I can't let myself believe that something could be wrong, but at the same time, I'm afraid to think that everything could be okay. It has to be okay. Our baby has to be healthy. How can it not? My emotions are all over the place, and it's hard to just function. P has been a pillar of strength; I wish I could be more like him. He said that he just needs things to be as normal as possible. While I on the other hand, don't know how to act normal. I haven't gone to work, I'm not sleeping and to top it all off, I think I have strep throat. And it's Christmas this week. I don't know how I'm going to see our families and pretend everything is fine. We might just skip Christmas. My mom said she'll cook for us on Thursday and skip going to my aunt's, so we may just do that. But that makes me sad too, I love seeing our families on Christmas. But I just don't know if I can ...

I'm also feeling incredibly guilty that I was so pleased I wasn't showing before. I know that showing or not showing has nothing to do with either one of these conditions, but I just wish I was fat, pregnant and happy with a healthy baby inside me. I am praying for a Christmas miracle ...