And Then Everything Changed

It was just three short years ago that my world was altered.  I was naively happily pregnant when I listened to a voicemail from my OB's office on 12/16/2008.  I called back and was told that the doctor would call me.  In the back of my head, I thought that probably wasn't good.  The office closes at 4; he called at 6PM - from his cellphone.  Then I knew it was bad.  He told me that my AFP was abnormal, but not to panic.  He told me the possible things that could be wrong with my baby.  I went online, found the Trisomy 18 website and the first words I saw were "incompatible with life".  I panicked.  P was at an event for work.  I called him and asked him to come home.  I never do that and he was home in a flash.  We read everything we could, cried and made the decision to have an amniocentesis, the only way to positively know if our baby would be ok. Three years ago today (can you tell I'm a bit date obsessed) we had our amnio.  Our doctor was one of the nicest I've ever met.  Everything looked okay, he didn't see any outward signs of T18, but the amnio would confirm.  This is what I wrote then:

"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 ... Based on a 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.


I am trying so hard to stay positive, but at the same time, am so afraid of what we will find out ... 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.

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. I love seeing our families on Christmas. But I just don't know if I can ..."

I have no idea how I survived.  I am so glad I wrote things down so I can look back and see how far I've come. This time of year is always hard for me.  Depression rears its ugly head and I have to fight back extra hard.  I have trouble motivating myself to run even though it makes me feel so much better.  I've decided that I need to hold myself accountable.  I'm going to start using either The Daily Mile or RunKeeper to track my workouts.  And I'm going to run another half marathon in March.  So that will get my butt in gear - I hope anyway.  I'm excited to run another race for BMM.  It's been over a year since my last one and high time for another one!

Things I am Thankful For

Awhile back, Suz from Steece's Pieces wrote a post about the ability to give thanks in any situation ... I decided it would be a good thing for me to try, so here goes:

I am beyond thankful for my parents and my in-laws. Saturday, P and I were unsure with what to do with ourselves to stay busy. We started watching some 24 (notice a trend?) in the later part of the morning and into the afternoon. I talked to my parents, who said they would be happy to meet us for dinner or come to see us so we didn't have make the drive. My mom suggested we call P's parents too. We did, and everyone came to us for an impromptu dinner Saturday night. It was exactly what we needed. I am so lucky that our parents get along so well and that they truly enjoy each other's company. We ended up having a really nice night, and for that, I am grateful.

I am thankful for my mom. She has truly been an amazing support for me, and I cannot imagine getting through this without her. I can only imagine how much she is hurting for her own baby (me), yet she has been so strong and so there for me that words cannot describe how much I love and appreciate her.

I am thankful for my dad. He gets together with his friends for every Pats game, but knew that P and I were looking to be distracted so he told his friends he couldn't make it and had us over the house to watch the game. He got all our favorite snacks, made a delicious dinner for us and it was just a nice family day. I appreciate it more than he knows ...

I am thankful for my sister. She was supposed to head back to NYC on Sunday morning, but stuck around on Sunday to watch the Pats game with us and planned on leaving early early Monday morning to get back in time for work. Without me knowing, she emailed her boss and asked for Monday off so she could spend the day with me. So she came down after our appt. with the genetic counselor (more on that later) and hung out with me. I think she sensed my fear of being alone, and decided to stay last night too so that we could hang out today. We cooked dinner, watched TV with P and Miss B and she stuck around today so I could have company while P was at work. I needed that more than she could ever know, and it brings tears to my eyes just thinking about how lucky I am that she is my sister and that we are so close.

I am thankful that we were able to get pregnant in the first place ... so many couples struggle with infertility, and we were blessed with conceiving quite quickly. I know someday I'll look back on this pregnancy with fond memories of my first baby ... it hurts so much now, but I cherish the fact that God gave me this chance in the first place ... I just hope I can do right by my baby.

Lastly, but certainly not least, I am so thankful for my husband. He is a pillar of strength and I literally cannot imagine going through this, or anything in life, without him. When I got the news about Toot, I was watching the movie P.S. I Love You. All I could think during the movie was thank God I had P and that losing him would be even more unbearable than this. So, if this is supposed to teach me anything, I think it's taught me that my marriage is stronger than I could have imagined and that my love for my husband is truer than I had known. He has been there for me in every way possible, and it breaks my heart because I doubt I've been there for him as he has for me.

So, despite the sadness, I know I'm lucky to have great family and friends ...
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As I mentioned earlier, we met with a genetic counselor yesterday. She was very nice, but actually didn't tell us all that much. She seemed surprised that we knew as much as we did about T18 and really didn't offer much we didn't already know. She did say that as long as our full karyotype does not come back showing translocation T18, we should have no worries about future children being affected by T18 or by Smith Lemli Opitz syndrome. She showed us the AFP results and basically said that the screening test looks at the same enzyme or whatever to predict risk. I did find out in looking at the results that our risk for T18 was greater than 1:5, not 1:40 like I had previously thought. That stung a little and probably would have made me less optimistic had I known, so maybe it's best that I didn't ... My OB/GYN's office is near my parent's house where I grew up, which would mean that I'd deliver at a small community hospital. This counselor was near us and was great in that she said she'd set us up with someone closer to home, if our OB chooses to transfer us (which sounds likely). The hospital we'll most likely deliver at now has a NICU and special care nursery (not that we'll need it, P and I want comfort care only; nothing we do will fix our little baby) and we'll be able to meet with the nurses and neonatologists ahead of time and hopefully have some familiar faces when we do in fact deliver. We should get the results of the full karyotype on Friday, which I have mixed feelings about. That makes it officially real (not that it isn't already, but I can still hold on to the tiniest shred of hope that this was all a mistake, HA) but at least then we'll know if it is in fact full T18 (95% chance it is) and I guess it will help guide our decision making/thoughts/feelings etc. I am truly emotionally drained ...

Complete Devastation

Well, the Christmas miracle that we prayed for has sadly not come true. Our baby does indeed have Trisomy 18 :( I cannot even begin to explain how sad I am. We found out on Christmas Eve at 12:02 PM. My doctor himself called and gave me the bad news. I was alone, watching P.S. I Love You - I know, how dumb can one be, right? As soon as I hung up the phone, I just lost it. I called my mom because poor P was at work and I just didn't know how I could tell him at work. She and my dad immediately got in the car to come see me and I made the hardest phone call in the world to my husband. He came home immediately and we just cried. I kept trying to repeat to myself that falling apart is not an option, but it wasn't really working all that well. I think I was just in total disbelief. Toot looked okay on the ultrasound. None of the definining characteristics: strawberry head, clenched fists, rocker-bottom feet, esophageal atresia, omphalacele, etc. were there. Toot's little heart is hooked up correctly, with 4 chambers and the pulmonary artery in the right place. It was too early to tell if there were any septal defects, but everything looked okay. How on earth could this actually be happening?

P and I just cuddled on the couch with Miss B. She could totally tell that something was wrong and just sat there with us, quiet as a mouse (very unlike her). We eventually decided that we needed to leave the house, so went to the grocery store and spent the rest of the night baking anything we could think of to keep our minds occupied. Then we watched about 9 episodes of 24. I don't think either one of us slept much at all. My brother and his family had sent Christmas presents, and when we opened the box, there was a card that said "open before Christmas". We did, and it was a card congratulating us on being pregnant :( It almost broke my heart. It feels like we're not pregnant anymore because we're losing the child we thought we were going to have. But we are, and I am so struggling with how I feel ... I'm not sure I can even put into words what I do feel, but am hoping to write more about it later ...

I was dreading Christmas so much. Our families both changed plans, so we went to P's parents house in the morning and it was surprisingly nice. It was just the 5 of us and B, and we just kinda sat around and talked and then opened presents. P's mom had screened all the gifts from other people, but one slipped through the cracks and was a little ornament with a baby. I lost it and had to run in the bathroom and hide. P came with me and we both just held each other and cried. I told him that I didn't even want to be pregnant anymore because it just hurts too much. We eventually got through it, but it was hard. I get these panic attacks too every time we need to leave somewhere or go somewhere. My heart starts racing and I freak out and can barely breathe. The crying that goes along with it doesn't really help. Not to mention the fact that I'm still sick and stuffed up to begin with. We headed to my parents house, cried some more but then ended up having a really nice afternoon. I was literally dreading the whole day, and despite the sadness, it ended up being just fine. It was nice just being with the people that we love, and the distraction of being with other people is really helpful too. I think I made it 4 hours without crying, which totally amazed me.

P had to go into work for a little bit today, so I headed to my parents house for the morning, because I am absolutely petrified of being alone. I called my OB (it is so strange to have all these doctor's cell phone numbers) and asked him a few questions. With the diagnosis, he recommended termination of the pregnancy, but P and I just don't think we can do that. It feels like it would be the easiest thing right now, but I don't think five years from now I would agree. I don't want any regrets ... and nothing is going to make this easy. I also called Dr. C, who did our amnio. I swear, he is a gift from God. When I called, he said that he was in his office, that they were closed, but that he would be happy to meet with us that afternoon to talk further about things. It was just what I needed, and P and I practically raced over there. He's been amazing throughout this whole thing, and we only met him for the first time the day of our amnio. I've known Dr. P for 10 years, but hearing all the info from Dr. C has just been more comforting. He offered more options for us (not just termination) and that was comforting too. According to him, carrying to term should have no more effect on my body than a "normal" pregnancy would.

We asked about the possibility of our baby having mosaic Trisomy 18 versus full Trisomy 18, and he said he was curious about that as well given that the ultrasound looked okay. There's about a 2% chance of that happening, so we're not counting on it, and even if it were true, there would then be even more uncertainty ... I guess other than the FISH test being wrong (I know, that's not possible), the best we can hope for is that the baby doesn't have translocational Trisomy 18, because that would mean any future children would have T18 as well ... beyond that, I don't even know what to hope for ...

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 ...