Emma Kate (Complete AV Canal, Patent Ductus Arteriosus) - Louisiana Pediatric Cardiology Foundation

Emma Kate (Complete AV Canal, Patent Ductus Arteriosus)

Our sweet Emma Kate was born on November 13, 2007. She was born into a room filled with many doctors and nurses, and lots of love, of course. We knew early on that we were going to be parents to a very unique and special child.

At my 20 week ultrasound, we were very excited to learn that we were having a baby girl. We also learned that day, that our baby had Kidney Pyelectasis, or an enlargement of part of the kidney. Two weeks later, I was sent to Maternal Fetal Medicine so that the doctors could keep a close eye on her kidneys. When I went to M.F.M., I was happy to learn that the kidney issue had resolved on its own, but was devastated to find out that there were other problems with the pregnancy. The doctor told me that Emma Kate had several markers for Down syndrome. Not fully understanding the risks associated with an amniocentesis, I opted to have the procedure done, hoping that the results would help me to prepare for the baby that I would be giving birth to, no matter the outcome. The amniocentesis ruled out Down syndrome, and I continued to see Maternal Fetal Medicine throughout the pregnancy. As the weeks went by, Emma Kate’s arm and leg measurements continued to fall behind, and we were told that Emma Kate would be born with a condition called Skeletal Dysplasia, or Dwarfism.

Fast forward to November 13, 2007. Emma Kate was born with a fairly uneventful labor. I remember holding her for the first time and thinking, “All of the doctors were wrong. There is nothing wrong with her. She’s absolutely perfect.” I still think she’s perfect. Emma Kate stayed with us the whole day in our room, and got to meet all of our friends and family, but throughout the day, her temperature continued to drop. At 9:00 pm, the nurses came in and took her to the Special Care Unit. Little did we know the next six weeks, would be full of so many ups and downs.

emma-kate-2Not long after Emma Kate was put in the Special Care Unit, we realized that feeding was extremely difficult for her. She was gavage fed, because we could not get her to nurse or take a bottle. The next several days were spent working on feeding. One morning, my husband and I left to go home for the first time since having Emma Kate. I knew the doctors had heard a heart murmur, and I knew that the cardiologist would be coming by to take a look at her, but I did not know that that day would be one that would change our lives forever. As soon as we walked into our house, my phone rang, and I knew it was not good news. It was Emma Kate’s nurse telling us that we needed to come back to the hospital to speak with the cardiologist right away. We were introduced to Dr. Brumund, and he very gently told us about the problems that he saw with Emma Kate’s heart. I felt the world come crashing down around me that day.

emma-kate-3Emma Kate’s heart had two problems, both of which would require intervention. The first was patent ductus arteriosus, and the second, was a much more complex defect called, complete atrioventricular canal. In December of 2007, Emma Kate had a PDA ligation, and we were hoping that her feeding would improve post-surgery. Unfortunately, her feeding continued to be very inconsistent, and a gastrostomy feeding tube remained our only ticket out of the hospital. On December 23, 2007, after 6 weeks in the NICU, I got a call from Dr. Brumund telling me that we could bring our baby home. It was music to our ears, and we loved celebrating Christmas at HOME with our girl!

The next year and a half was filled with doctor’s appointments and therapies, but Emma Kate continued to remain extremely healthy. In May of 2009, we left for Children’s Hospital Boston to have Emma Kate’s major heart defect repaired. On May 15, Emma Kate had a heart catheterization to dilate her left pulmonary artery. On May 18, Dr. Fynn-Thompson, performed Emma Kate’s surgery, and everything went perfectly. We only had minor complications with stridor from the ventilator, which required a dilation of her narrowed airway. Two weeks later we were home with a healthy “normal” heart!

emma-kate-4As Emma Kate’s development fell further and further behind, we continued to search for a diagnosis. Full body x-rays in Boston ruled out skeletal dysplasia. On February 2, 2010, we finally got a diagnosis from a Chromosomal Microarray Analysis, which showed that Emma Kate was born with an extremely rare genetic condition known as 2Q37 Deletion Syndrome. Today, our lives are still filled with many many doctor’s appointments and therapies, but more than that, our lives are completely filled with joy and love for our sweet girl.

We are so thankful for our family, friends, and church who have been a constant encouragement to us. We are so thankful that God chose us to be Emma Kate’s parents, and we pray that God would use her for His glory.