Welcome to our blog! I never imagined that I would have anything to tell everyone that would merit using this kind of a space - but I guess I do. I hate to broadcast my experience and emotions out for all to see. But with everything going on in our family right now, I do think this is probably the best way to communicate updates and information with anyone who is interested enough in our situation to be following along.
I guess the best place to start is introductions. I am pretty sure most people reading this blog know either myself or ed in some capacity. We have been together for eons. We couldn't be more different but are so much the same. We married in 2000 and added to our family in 2002 with the birth of our daughter Caitlyn, now 10 years old. Our son Edward Alexander (Alex) joined our troupe in 2008. We began to feel the itch for a bonus baby after an amazing family vacation last summer and we were blessed in the fall with news of an expected addition due on July 14, 2013!
I have been blessed with easy pregnancies with my two oldest children - but this boy was different from the beginning. At the 7 week ultrasound to confirm viability, the heart rate was 110, when expected to be over 120s. However, by the 8th week, his heart rate was up in the 140s - so we got some reassurance! I also experienced some mild spotting and cramping which I have never had in other pregnancies - but it was so minimal that although I worried, it was clearly not an ending. I also began to notice Braxton-Hicks with even gentle exercise at a much earlier gestational age than I've ever had before.
Early pregnancy is littered with hoards of optional screening tests, blood work, and diagnostic procedures. The goal of these tests is to provide additional information about the viability of the pregnancies and allow families to have additional time and information to process potentially serious diagnoses. I was 35 when I started this pregnancy, so I was at slightly increased risk of chromosomal anomalies. Ed and I talked at length and ultimately decided that the results of those diagnostic tests would not change our decisions about carrying our baby to term; we knew there was an increased risk of syndromes such as Down's and we knew that we would love and cherish whatever blessing came out way. We also elected not to see the Maternal-Fetal Medicine providers up-front - for similar reasons. If additional information is not going to change your course of action, why seek it out? We did agree that if anything funny came up on our future scans we would be willing to see them for diagnostic purposes.
Our 18 week anatomy scan seemed to be going very well - we were excited to learn that we were expecting another boy (although maybe a little part of me was hoping for a girl). Everything on that initial scan looked normal - although the technician reported she had difficulty visualizing the cord, as his legs were crossed (as we later learned his always are). Unfortunately my OB/GYN office doesn't routinely schedule an office visit on the day of those anatomy scans so my "abnormal scan" then put me in for a "work-in" appointment and I was stuck waiting in the office for an additional two hours. Ultimately I saw the mid-level provider as I was really really tired of waiting and it was my son's 5th birthday and we needed to get home to celebrate! I wonder if someone else would have looked at that preliminary report and gotten the correct information or whether it was misflagged the first time....regardless, at that point it was relayed that the technician could not get proper visualization of the cord and recommended that I come back for a repeat scan in a few weeks.
The repeat scan was scheduled at 20 weeks, the day before I was scheduled to start a 5 day cycle of 12-hours of night shifts. If you know me, there is no more irritable time for me than the day before I start nights! The morning of the repeat scan I received a phone call from the provider who had seen me two weeks prior at the office. She let me know that actually the scan demonstrated a two-vessel cord and that they re-reviewed the images and recommended referral to Maternal-Fetal Medicine (MFM) for ultrasound. Somehow, I knew at that time, that the bottom was about to fall out of my boat. I was so upset and angry - I was also frustrated as I felt if I had been given proper information two weeks prior that I would have already been into see the specialists and had additional information. Apparently I was impressively upset as she got me an appointment with the MFM provider for an ultrasound in just a few hours on that same day! What's more, I had an appointment with the regular Ob/Gyn scheduled for just an hour later. The good thing about being in medicine is that I have the background to be able to understand the underpinnings of why things are done; the bad thing is that I understood precisely why a higher level ultrasound was indicated. In the few hours we had, I read up on everything I could (it's been a while since I had thought about OB issues - and even in med school it wasn't my favorite!). I tried to focus on the articles that indicated a single umbilical artery is usually not associated with any other anomalies or chromosomal issues; a part of me just knew not to bother trying to be positive.
Ed was able to flex his schedule at work that day and we met up for our repeat ultrasound. Unfortunately, things went from "everything is normal" to everything is very much not normal. On the ultrasound our baby was seen to have a significant cleft palate, confirmed single umbilical artery, clenched fists. The heart was grossly normal, but there was a suggestion of possible coarctation of the aorta. I am not a radiologist by any stretch of the imagination, but I could tell things were not normal. The cute crossed legs from his first ultrasound were still crossed...although they did move and kick! Good news was that he did have a 4 chambered heart, two kidneys, a stomach and bladder bubble, abdominal organs within the abdominal wall, normal brain appearance and no evidence of spina bifida and normal nuchal thickness. Unfortunately, all that good stuff doesn't mean a whole heck of a lot when you've got a constellation of anomalies. Ed had to leave before the physician was able to finish his look and summary of findings, but I was kind of glad he did. I guessed what might be coming and I would've tried to be strong for him...anyway. Me, Dr. X and ultrasound tech in a room and the physician starts with "I am very concerned that your baby has Edwards syndrome/trisomy 18". He presented options including blood tests, repeat ultrasound, or amniocentesis for diagnosis. At this point, I wanted definitive answers and I elected to have an amniocentesis. It didn't hurt but for a few minutes and I was ready to run out of the office. I cried a bit (understatement alert).
Directly from the MFM office, I headed to my OB/GYN's office for a "routine" 20 week follow-up visit. God bless Dr. Jennifer Little; the first time she gets to meet me and I'm a basket case and she hadn't been clued into why! She had no idea what she was about to walk into that day - she had not yet received the update from the MFM office and walked into a tearful and emotional physician trying really hard to keep herself together - but failing miserably. I gave her a pretty reliable update on the information and we both left the appointment with the knowledge that Trisomy 18 was most likely, but hoping and praying for just a cleft palate and a single umbilical artery...not so much. She was so amazing at that visit and the repeat visit at 24 weeks.
And then the waiting started and the working started. With our other children, we weren't certain of their names until after they were born. I knew that I needed to have a name for this baby before I would be able to deal with any bad news. Before work one night, we all sat at the table to choose names. Everyone had their favorites - but ultimately all 4 of us settled on the name James Logan. For comic book lovers out there, those are the two names of Wolverine at different points in his identity. I am not a comic lover. But I still think it works!
Working nights can be good and bad when you have a looming catastrophe. On the one hand, it can be wicked busy and distracting. On the other hand, there is no room for utter personal collapse in there. Thankfully the first two nights went at a moderate pace - reasonable. The day before my third shift I got the dreaded call from the geneticist. My FISH test was positive for Trisomy 18. At that point in time, you do not know if it is all of the cells in the body(full) or just some (mosaic). However, we knew that our baby's prognosis just got a lot worse. It was so hard to pass that information on to my husband and my mother as I was collapsing inside. The geneticist was nice enough and offered some referral information but we decided to wait until the final chromosomal analysis came back in another week. I was not capable of being strong that day. Thankfully I had my mom and husband to hold me up.
Going into work that night was surreal. I was exhausted from being up much of the day processing the news. Unfortunately (and fortunately) I have no filter and wear my emotions on my sleeve. I am so blessed with amazing partners at work who I felt comfortable telling about my situation and who were able to offer me incredible support. In fact one partner, who shall remain nameless, even offered to stay in the hospital for me that night. For me, it is better to work than not to. I love having a job that is focused on the needs of others. It helps to keep things in balance (and to distract). The amazing blessing was that our usually over-the-top busy night shifts were more moderate and paced. I had time to learn more about Trisomy 18 and different choices that different families make for their babies and the different experiences of pregnancy with these babies...at some point I will probably write a basic primer, but feel free to google it. The gist is, that of male pregnancies effected by Trisomy 18 diagnosed at 20 weeks gestation, a large percentage will be stillborn. Of those who make it to term, 30% of babies don't make it through vaginal labor&delivery. There are those who survive for a few hours and some who live much longer and beat the odds. Some T18 babies have also lived longer lives, although those are more likely to be girls. Some families choose to terminate their Trisomy 18 pregnancies due to the grimm odds; others choose aggressive medical care for their babies including ICU care and ventilators and trachs and feeding tubes and are able to raise babies with complicated medical needs and disabilities but who have value. There were so many different viewpoints to consider and such limited available medical data (which was such a challenge for an information whore like myself).
I was not surprised when I received the call from the geneticist that confirmed full Trisomy 18; I had read and gathered enough information to accept it by that time. I also had the opportunity to connect with some of the internet communities that support families going through similar situations. ed and I had already decided that termination of the pregnancy was not something that was right for us or our family. I couldn't have made a decision like that in the short period of time we had available, and it wasn't compatible with how we viewed accepting outcomes in our lives. As I sit here today at 34 weeks gestation with little James kicking me back and forth all of the time I am so thankful that we made that choice. Even if he doesn't make it to be held breathing in my arms, he has been loved and we have had the time to emotionally process what is going to come next. I am also so grateful that he had that two vessel cord that led to his diagnosis (although to be honest his cleft is so big I have no idea how it was missed on his 18 week anatomy scan); without that two vessel cord we never would have had the time to prepare or to make the connections that I have made through this journey.
At my 24 week ultrasound with MFM, it felt a lot different. I did feel like we were now not interesting and that he had nothing else to offer us. Perhaps his perspective was also influenced by the fact that we had also decided as a family that although we are carrying this baby to term that we would not be pursuing aggressive medical intervention, although I do not remember telling him that up front. The only additional information we gleaned at that scan was obvious to me when the 4 chambered heart view came up - baby James had a pretty big VSD that even I could see from across the room. Alternately, everything else looked the same. He was measuring about 10 days behind.
Since that time we have been working through the grieving process for a baby that we have not even gotten to meet yet...not knowing if he will be stillborn, be with us for just a few hours, or if we will be blessed with even more time. We have had conversations with our kids about life and death. I have connected with strangers in amazing ways, met with hospice providers, depended on the kindness of friends, and fallen even more in love with my husband. I have grown in ways I never wanted to. But I know that ed and I can do this and I hope and pray that we can help our kids through whatever the next few weeks bring!
Obviously I am trying to write about the last 4 months in a single blog post - so there is a lot that has been left out here and left to future blog posts. We will be choosing an induction date later this week, finalizing our birth plan in our hospice meeting on Wednesday, and even shopping at Babies R Us for things that we may end up returning 4 weeks from now! I also plan to give a little more information on Trisomy 18, my literature reviews, to provide some information for other families who may be navigating this road...
We also plan to use this blog to update friends and family about his status in and around delivery...rather than email trees/phone trees/ or Facebook...this seems like a better way.
