After what seemed like the longest weekend of my life it was finally Monday morning. I had never wanted a Monday to come faster. Monday meant a call from CHOP and hopefully an appointment in the near future. I woke up at 5 AM as I did every work morning and got ready, ate breakfast, packed my lunch and headed out the door for work. Once I got there I immediately pulled my boss aside to fill him in on everything and explain that I hopefully would be heading to Philadelphia very soon and I did not know when I would be back. I will never forget our conversation in that conference room. He could not of been more understanding of my situation and told me to take all the time I needed, and that he and his wife would keep Jeff and I in their prayers. He will never know how much that meant to me. As crazy as things were in my life at that moment, he gave me so much comfort knowing I did not have to stress about work, and that was a huge relief.
After being at work for 45 minutes my phone rang. I picked up and it was a nurse from The Children’s Hospital of Philadelphia returning my call from the weekend. I filled her in on our situation and she said she was going to do some research and see if the referral from the MFM’s had come in and that she would give me a call back. After about an hour I received another call from Philadelphia. It was another nurse calling to inform me that they have not received my referral, but that they had an appointment the following day if I was interested in it. I said absolutely, and all before 10 AM on Monday morning I had my first appointment scheduled with CHOP for the very next day. I called Jeff to fill him in and by noon we were both leaving work to come home, pack and hit the road. We decided to pack as if we were going to be staying the entire week. We had no idea how long we were going to be staying and we wanted to be prepared. By 3 PM we were hitting the road with an expected arrival time of 9 PM. When we arrived at our hotel we grabbed a bite to eat and hit the bed. Our appointment was scheduled for 7 AM and from everything I had read, the first appointment was usually an 8 hour day.
Five AM came bright and early the morning of November 19, 2019. We had two hours to get up, get ready, eat breakfast and make it to the hospital. Once we got there we checked in and we were given our itinerary for the day. It was so overwhelming. And just like I had read, we were in for a full eight-hour day of appointments and consultations. First up was a three-hour ultrasound. Yes. You read it right and no it isn’t a typo. Three long hours. This ultrasound disregards any diagnosis that a new patient is referred with. It is three hours long because the technician looks at every single part of the baby to form their own diagnosis. They look for anything and everything that could be wrong, and ours took every bit of three hours minus a short intermission for a bathroom break. Once the ultrasound was done the radiologist came in to do her own scan. She was so sweet and made us feel so comfortable. A few minutes into the scan she asked if we were scheduled for a MRI? To which I replied yes. After a long paused silence she decided to opt out of a MRI. She told us that she did not feel a MRI would give her any additional valuable information and she did not feel it was necessary at the time.
Next up on our itinerary was a meeting with a genetic counselor. Her purpose was to inform Jeff and I that Layne’s condition was 100% not genetic and not hereditary, and the chances of it happening again were slim to none. She told me that there was nothing I did to cause it and there was nothing I could of done to prevent it. We also spent a good amount of time talking about our families past medical history. She drilled us deep. She wanted to know everything about every member of the family, on both sides. After we painted the picture of our family tree she determined that she did not see anything in our family’s lineage that would lead her to believe we would have anything but normal pregnancies in the future. This took a huge weight off my shoulders. After hearing about Layne’s diagnosis a few days prior I immediately thought about our future. I had no idea how this would affect future pregnancies, and although I was 100% invested in Layne’s pregnancy, it was a relief to hear I would be able to go on and have a normal healthy pregnancy in the future.
Our next stop of the day was our echocardiogram appointment. This procedure was done to take an in depth look at Layne’s heart. Based on the ultrasound, it was determined that her heart was small and underdeveloped, but the concern was how well was it functioning. Since I was almost 20 weeks when we discovered Layne was sick it was difficult to determine how long her heart had been in the state it was in. The results from this test were going to be very telling for our future with Layne’s pregnancy. After about an hour of being under the probe we were done. Finally. I was done with tests and procedures for the day and all we could do was wait. Wait for the doctors to deliberate the findings and for us to hear what they came up with. Our MFM consultation could not come fast enough. I was so anxious, but never scared. I knew she was sick. We knew how severe her condition was. Nothing they could have told me could be worse than the information we had already been given in the days prior. I just wanted to sit and hear what they had to say. I wanted to know our next steps, what we needed to do, and I wanted to know our game plan moving forward. We were prepared to do whatever, and I mean whatever, they suggested to save our daughter.
As we waited for our MFM consultation Jeff and I decided this would be a good time to grab a bite to eat, although I did not have much of an appetite. We journeyed through the halls of The Children’s Hospital of Philadelphia trying to find our way to the cafeteria. On the way we passed by a lot of sick children. Some were in their rooms while others were being pulled in wagons down the halls. It was a sweet reminder to be thankful. Thankful for our health and for a wonderful place like CHOP. A place that takes really sick children and nurses them back to health. I know every story does not have a happy ending, but it made me grateful that a place like CHOP exists and gives families, such as mine, hope even during the darkest of times.
After lunch it was time for our consultation. We gathered in a small conference room just outside the waiting room with Dr. Julie Moldenhauer, one of the many MFM doctors we would grow to love during our time with CHOP. Without any hesitation she jumped right into what we were dealing with. She confirmed the diagnosis of Congenital Cystic Adenomatoid Malformation, CCAM, as well as the severity we were dealing with. We also learned that Layne would need surgery to remove the cysts soon after birth as they can become cancerous later in life. In the world of lung lesions, a CCAM volume ratio (CVR) is used to determine the severity. It is a ratio of the volume of the cysts over the circumference of the babies head. Anything over a 1.6 puts the baby at risk for hydrops. Hydrops is a collection of fluid in two or more fetal compartments. Based on the ultrasound Layne’s CVR was a 4.4. She had fluid accumulation in the abdomen (ascites), scalp edema, and a small amount of fluid in her chest. Her heart was also displaced to the right side of her chest. Not only was her heart displaced, but it was also compressed. To put it into perspective, at 19 weeks a baby’s heart should consume 30% of the chest. Layne’s was consuming about 6%. The risk of her heart being under developed was huge. One of many miracles witnessed that day at CHOP was the results of her echocardiogram. The function looked normal-ish. Yes, it was severely underdeveloped in size, but as far as function, it was doing what it needed to do. In addition to her CCAM the ultrasound tech also noticed that the blood flow in the placenta was being hindered. Blood flow through the placenta should always have a forward motion. At points during the ultrasound they noticed reversed blood flow. This was yet another concern and another issue that needed to be addressed moving forward.
After giving us all the details and findings from the ultrasound and echocardiogram it was time to talk about our options with moving forward, as well as plans for the future. Dr. Moldenhauer told us that we need fetal intervention immediately or Layne was not going to survive much longer. Her first suggestion, since Layne’s cysts were macrocystic and fluid filled, was to try to drain them. Even though they would more than likely fill back up, she felt this was the least invasive procedure we could do at that moment to get pressure off the heart and give it some time to recover. If the drainage worked, then our next step was to have surgery to place a shunt. A shunt would permanently be placed in the cysts to continuously drain them. We also discussed what her suggestion would be for delivery. She told us that we would 100% have to deliver at CHOP because Layne would need the extra care that can be provided through their NICU. We also touched on what type of delivery I would have. She said more than likely I would need to prepare myself for a C-section as a vaginal delivery was probably off the table, and based on how sick Layne was closer to birth I may be a candidate for an EXIT procedure. This delivery method is similar to a C-section, but I would be put under and prior to clamping the cord, the doctors would operate on Layne while she was still receiving oxygen and nutrients from me. All of this was still up in the air, but it was comforting to know what I could be up against at the time of delivery.
At this point in the day we were expecting our parents to arrive in Philly at any moment. They left the house that morning and made the long six-hour drive to come and be with us. Just as the cyst drainage procedure was getting ready to start they arrived and were able to join us in the room and watch. After Dr. Moldenhauer prepped and cleaned my skin they used the ultrasound to find the best point of entry. Layne was positioned perfectly and she was confident that she would be able to hit all three of the largest cysts. Once she was comfortable with her entry location she used a long needle to puncture my skin, break through the uterus and reach the cysts in Layne’s chest. Since this procedure was ultrasound-guided we were able to watch everything on the TV hanging from the celling She then took a syringe and begin suctioning fluid. She filled syringe after syringe, and after each filling you could see the cyst shrink a little more. The smaller the cysts were getting the bigger her heart was getting. They were able to remove 30 cc’s of fluid. It was amazing. Her little heart was starting to look like a real heart. For the first time you could see all four chambers. After the procedure was complete they remeasured her CVR and it was a 1.9. It was still high, and still considered high-risk, but it was so much better then 4.4. I left that office with a huge smile on my face. We finally had a game plan moving forward and for the first time in who knows how long, Layne’s heart did not have to work in overdrive to keep her alive. I was beyond thankful.
Tallies
Ultrasound – 2
Echocardiogram – 2
Steroid Shots – 2
Cyst Drainage – 1
So interesting, you never know who you will be touching with your story, Blessings to many,.