The goal of writing a blog is to keep family & friends up-to-date on what is happening in Ellie's world - errr, for now, our world as we wait for Ellie. This way, our story is private and personal (not just posted to FB), but it's also a way for anyone who wants information to have as much as they want to read about. How's that? Admittedly, this is the first time I've ever created a blog - so bear with me, here. I'm sure that Brandon will post now and again, too... and we all know he's more eloquent with words. But here it goes... this first post is long because I have to catch you up on a LOT!
Rewind almost a year: Last summer, the baby bug totally came over me (again) and Brandon and I both began preparing ourselves to add a third little turkey to our family. I started taking prenatal vitamins, cut back the caffeine - all of that. I bought tests by the value pack and about drove myself crazy waiting to finally get a positive one. The positive test came on Christmas morning 2013. Man, what a great present, right? I felt like I was so ready this time... this was the first time I'd done everything I could to prepare for a healthy pregnancy and this would be our first child that was really "planned". We were pumped.
We broke the news to family in January in Vanilla Ice style and drudged through all the icky things that come with the first trimester of pregnancy. With each appointment, my weight would drop a little more - just like it had with our first 2 pregnancies, but everything else seemed great.
I called B, voice shaking, and told him we needed to go in and we needed to get the kids to mom's. So we did this and anxiously waited in Dr. Dev's waiting room. Dev brought us in and told us that the screening test indicated that our pregnancy was at higher risk for Down syndrome than a typical pregnancy at my age and gestation, but that it is common to get false positives with MSS. So, he had Sasha pull blood to be sent away for the materniT21 (or T21) test. This test was new to me, but I was excited to know that the results would be very accurate and that we'd also know if we were having a boy or a girl. We would have to wait 7 days to find out.
The 7th day was a Friday and by the time I knew the office was closing, I sat and cried because the wait was crazy painful. We had a busy weekend of egg hunts and the Creation Museum, though, so we did alright. Monday morning brought dentist appointments for the boys. While I sat in the waiting room, Sasha called again and told me that Dr. Dev would need to see us again that afternoon and that he'd need to do an ultrasound, too. I had no idea what that meant, but I called B and again, we got the kids to my parents' house so we could go in around 1pm.
They took all of the vitals again (starting to gain weight back - celebrations) and then sat us in the ultrasound room to wait on Dr. Dev. When he came in, he let us know that the test came back positive for Down syndrome and that we were having a little girl! A little girl... how wonderful! Down syndrome... I can handle that. I have no personal experience with this kind of thing, but with God, we can do this! On the ultrasound we could see all of the wonderful parts that made our little girl, Elizabeth Kate (Ellie), a perfect little person. Dr. Dev confirmed that she had a hypoplastic nasal bone, which was consistent with Down syndrome, then checked out all of her organs and structures. Then he spent much longer looking at her heart than he had with either of our earlier pregnancies. He told us that he thought she might have an atrial septum defect (ASD), but he wanted us to see a specialist to get a more in-depth look. This... I wasn't sure how to handle. I had no idea what ASD meant or what the implications would be for Ellie. But when he turned the sound on so that we could hear her broken little heart beat, I was completely overwhelmed - like the first time you hear your baby's heartbeat.
We ended our appointment by scheduling another appointment in Vandalia at Perinatal Partners to see a genetic councilor and get another ultrasound and a fetal echocardiogram (ECG). We had to wait 4 long weeks to hear any more news. While we sat there waiting to make appointments, B looked up ASD on his phone and let me know that an ASD can be as simple as a heart murmur and wasn't terribly serious. I was a little relieved. I cried when we got back into the car... a million thoughts ran through my head. Would our little girl ever be accepted by her peers? Would she be able to go to school with "typical" kids? Would she look like us? Would she be able to experience her own independence one day? My heart was broken for her. I knew she'd be wonderful and loving. I knew that she'd be happy and that we'd do everything in our power to give her every opportunity that was available to her. It's just never an easy thing to know that your child is going to be different. As much as you want your kids to be individuals, you also want them to fit in and lead a "normal" life... whatever that really means.
When we arrived at the shop to pick up the boys, mom and dad and Tracy and Josh were there. We walked in quietly, not quite sure what to say. Tracy asked, "pink or blue". I excitedly said, "PINK" then paused for a while before my shaking voice could say, "She does have Down syndrome". Mom and Dad hopped up and hugged us both, reassuring us that everything would be just fine. We knew this... but it was still hard to admit that we were so helpless. I told them that we were going to a specialist in May so they could look at Ellie's heart more and Brandon explained that she might have an ASD and what that meant. We spent the rest of our evening sharing the news with family and our closest friends.
Shortly afterwards, I had to mourn for the baby that I thought I was having (what a weird concept, right?). But this helped. I had to let go of what I thought was going to happen in order to embrace our new reality. I went on Pinterest and literally searched for Down syndrome. You know what I found? Adorable babies! I saw pictures of teenage girls going to prom and teenage boys holding their driver's licenses. I saw inspirational pictures and weddings. I even saw a picture of a little girl with her quote, "My mom said my dance moves are so sick that she thinks I have "get Down syndrome". LOVE! That is the kind of mom I want to be. All of the things that my mind thought would never happen were staring me back in the face. Lesson learned: I CANNOT and WILL NOT put boundaries on this little girl. My hopes and dreams for her are just that... mine. Her hopes and dreams may look totally different, but I have to make sure that I stay out of the way enough to let her realize those dreams. I sat back in amazement and delight.
Then came the wave of information we tried to gather. Did you know that around 90% of babies with a prenatal diagnosis for Down syndrome get aborted? That shocked me - and made me mad. We also found out that about 50% of Down syndrome children have some sort of congenital heart defect.
The first few days were pretty numb, Brandon posted this amazing note to FB which perfectly describes how we felt about everything. Then came the wave of love and compassion from friends and family. This was amazing. You all sure know how to make someone feel loved and empowered to take on anything! We got in touch with the Health Department the first week and got Ellie pre-registered for therapy when she arrives. We found out about different avenues that can help us best care for her heart, if needed, and about resources to help us with the extra medical costs that may come with a heart condition. What a relief! I had to take a break for about a week and not read ANYTHING about Down syndrome or about ASD. I had to let my emotions and thoughts settle and take time to enjoy this pregnancy now that Ellie was moving around like crazy.
About a week later, Ashley, from the Help Me Grow program, came to our house along with a BCMH nurse, Jenny (who I've known since I was a little kid), and they gave us the run-down of what therapy would look like and how to get the ball rolling. They explained to us the BCMH program (Bureau for Children with Medical Handicaps) and how it would help us with any medical costs associated with a heart condition and how to ensure that we're seeing the right doctors for this. At this point we knew that we'd likely need to deliver at a hospital where BCMH doctors would be treating Ellie (which would be Miami Valley - they also have a level 4 NICU, just in case).
On May 5th, I had my regular 22-week appointment with Dr. Dev and they let me know that Ellie is measuring exactly where she should be and I was finally back up to my pre-pregnancy weight. I also talked to Dr. Dev about where we'd deliver and thanked him for the prenatal testing that has helped us plan so much in advance. He told me that he was praying for Ellie and he prayed that when we went to Vandalia, that maybe they wouldn't find any heart condition. Our doctor prayed for our baby. Let me say that again, our doctor prayed for our baby! I feel like that's probably not something that doctors in the "traditional" medical field talk about much with their patients, and I was thrilled that ours did.
May 6th was our appointment in Vandalia. We first spoke to the genetic councilor, Rachel, and were given so much great information about resources that were available to us and such. She was so compassionate and even gave us the personal cell number of another genetic councilor in their office who had a little girl with Down syndrome. Our ultrasound was with Lara and she, too, was amazing and compassionate. I was so impressed with how detailed and clear the ultrasound was. We could see all kinds of things as they checked Ellie out head to toe. Ellie sure is a wiggle worm, so she didn't make Lara's job easy. Lara spent half of the time looking at Ellie's heart before she brought Dr. Sonek in to take another look and chatted with us about Ellie. When he came in, he took another look and let us know that Ellie's facial profile measurements were consistent with Down syndrome and that she has what is called an A-V Canal Defect (or Endocardial Cushion Defect). He was referring us to a cardiologist at Dayton Children's for another ECG. He also thought that Ellie's aorta was narrower than he'd like to see. My heart instantly sank. I knew that Kristen, my supervisor at work, has a son with Down syndrome who was also born with A-V Canal Defect. I knew that her little guy was in heart failure for the first 3 months of his life before he had open heart surgery. I also knew that he was a healthy little 6-year-old now, so there was light at the end of the tunnel. But this was much more serious than an ASD. I left totally shaken, but still trying to grasp onto any optimism I could.
Within an hour, Rachel called us back to let us know that she was able to get us an appointment at Children's on Thursday, May 8th. We took it. I sent my supervisor, Kristen, a text to let her know that I'd need to adjust my schedule on Thursday. She responded with, "Yes, that's exactly what Caleb (her son) had... hang in there... btw, he's doing just fine now with his heart! We just signed him up for soccer last week." That was the glimmer of hope I needed!
On Thursday, we got another fetal ECG (this time with Theresa) and spoke with the cardiologist (Dr. Luby). Dr. Luby confirmed that Ellie does have an A-V Canal Defect, and explained exactly what that meant. She drew us a picture of what we were looking at (my rendition is below). She said that this is NOT something that affects Ellie now, during pregnancy. She said that as long as I'm doing the breathing, Ellie's heart is working just fine. When she's born and breathing on her own, though, this is when the A-V Canal Defect will come into play. The picture below should help, but essentially... let's do a quick physiology lesson: a normal heart has 4 chambers, 2 on top to collect blood, and 2 on bottom to pump blood out. The 2 chambers on the right side of your chest (left side of the drawing) collect blood from the body and pump in to the lungs to get oxygen. The blood then comes back into the top left side of the heart and pumps out into the body from the bottom left side. In Ellie's case, her top chambers, her atria, are missing most of the wall the separates them. Her bottom chambers, ventricles, are also missing most of the wall (or septum) that separates them in normal hearts. Also, in a normal heart, you have 2 valves. One on the right (tricuspid valve) and one on the left (mitral valve). Ellie doesn't have 2 valves, but instead has just one in the middle.
What does this mean? It means that when she's no longer in the safe environment of my belly, that her heart won't be able to separate the oxygen-poor blood from her body and the oxygen-rich blood from her lungs. This can cause a myriad of problems, but should be able to be controlled pretty well with medication for a while. Dr. Luby said that when we go into labor, that she'll be called and they'll have a team ready when Ellie arrives that will check her out. If all goes well, Ellie should still be able to come home with us, just with medications to keep her heart and lungs going strong. We'll have to be on the lookout for signs of heart failure and those signs will mean a change in medication. The goal is to keep Ellie pretty healthy so that she's strong and healthy at about 4 months. Between 4 and 6 months old, they'll need to do open heart surgery on her. We'll likely go to Cincinnati Children's for this. Fortunately, the success rate of this surgery is pretty amazing and because Ellie has the best case scenario for this defect (her ventricles are the size they should be and Dr. Luby didn't see anything wrong with the veins and arteries around the heart), she will likely only need this one surgery.
Are we scared? Terrified! Is there anything we can do? Yep - keep her warm and safe and get her to full term (which shouldn't be an issue since we had to be induced for both of her brothers). Dr. Luby was also very good with us and said, "I hope someone has already told you that there was nothing you did to cause this. There was nothing you could have done to prevent this. This just happens sometimes.". We did know that about 50% of babies with Down syndrome had some type of congenital heart defect, so we knew this was a possibility.
Right now we're just amazed and thankful that we know all of this now and can be prepared for her birth. We know now that we'll need to deliver in a different hospital than we had in the past, we know that our pediatrician will need to change. We know who to call before we get home so that therapy can start in-home as soon as she arrives. We know that we'll have a regimen of medication to keep her healthy. We know the signs of heart failure to watch out for. We know that she'll have open heart surgery before she's 6 months old. We know that Cincinnati is ranked #3 in the nation for pediatric cardiac surgery (yahoo). And we know that once we're through surgery, Ellie will lead a pretty normal, happy life.
My job now is to sit back and relax through the rest of this pregnancy! I can do that. And I know this was a very long story... but now you're up to speed :). Thank you for your thoughts and prayers for Miss Ellie! I'm pretty sure that she's going to be even more ornery than her older brothers.
