Charlie's Story - Congenital Diaphragmatic Hernia (CDH)

My husband and I found out we were expecting in late January. We were so thrilled so be entering into this chapter of our lives! Due to scheduling issues, we had our 20-week ultrasound at 17 weeks. We could hardly wait to find out the sex of our baby! We were very excited but also nervous about the health of our baby. It wasn’t our focus, but strangely enough, it was always in the back of our mind. We had the ultrasound and as first-time parents, we didn’t notice anything unusual. We waited to see the doctor and when she came in, she said, "What did the ultrasound tech tell you?" Not knowing anything was wrong, we said, "That it’s a boy." She responded with, "It looks like he has a diaphragmatic hernia, but we need to send you to a maternal fetal medicine specialist to verify." We asked, "Is it serious?" She replied with, "It can be very serious and I wouldn’t recommend googling it." Of course, we left the office, googled it and were devastated. We went to an MFM specialist the same day and received confirmation that it was indeed a diaphragmatic hernia. Our doctor at the time was not supportive and gave us all of her experiences with CDH (not positive). I had an amniocentesis and was told that if it came back with any red flags, the recommendation would be to terminate. The next 7 days were the longest of our lives. We went on vacation to the beach, but of course all we did was worry - and wait for a call from the doctor. We finally heard from my OB that everything was clear in the amniocentesis, so it seemed like Charlie had CDH with no additional issues. We were thrilled with this news but our MFM specialist still seemed to think we should consider termination. If we didn’t, she recommended CHOP (Children's Hospital of Philadelphia). We mentioned Dr. Kays in Gainesville, Florida, and she had never heard of him. (Several days prior, I had googled CDH and found Dr. Kays.) He looked like the best choice, but could Durham and I realistically relocate to Gainesville for 2-3 months? It wasn’t likely, so we explored other options at the time, while spending an entire day at Children's Hospital at Vanderbilt, meeting with their MFM specialist, pediatric surgeon and neonatologist. Vanderbilt sees a handful of CDH babies a year and it would have been much easier to stay here. But they didn't have the results that Dr. Kays did, and that was extremely clear after we visited him in Gainesville. (Thankfully, a mutual friend from Birmingham, whose son had been one of Dr. Kays' patients, convinced us to go to Gainesville and at least meet Dr. Kays before making our final decision. We are still so thankful for the Riches and their encouragement!)

The next 4 months were very long. At 26 weeks, we flew to Gainesville, met Dr. Kays and Joy, and were given the best news we had heard since the diagnosis. Charlie’s liver remained down and there was a 25% chance he would need ECMO. Regardless, there was a 90% chance that we would bring him home - breathing on his own. Everyone was extremely confident and comfortable with the CDH diagnosis, not to mention there was a free apartment for us to stay in, which made this a no-brainer! Charlie was going to be born a Florida Gator, no questions asked.

I flew down at 37 weeks and was induced at 39 weeks. After being in labor for 24 hours, Charlie came into this world via C-section. We were anxious to start the process and get him well, so my “birth plan” quickly went out the window. Charlie did extremely well the first 4 days of life. Then he had his repair. During his surgery, he got extremely sick. Apparently, his good lung collapsed and they nearly lost him. He was missing 60% of his diaphragm and his stomach, spleen, intestines and kidneys were in his chest. His lungs were a pretty decent size so Charlie threw the doctor a curveball in the operating room. Dr. Kays was not happy after the surgery and had told us that it was extremely likely he would be put on ECMO. He slept by his bedside that night. Charlie pulled through and thankfully didn’t need ECMO, but his lungs took a little longer to catch on than the typical “moderate” CDH baby. He spent 54 days in the NICU. He was on the ventilator for 16 days and in NICU III for 6 weeks. He did come home on oxygen but did not have enough reflux to need a G-tube or the Nissen procedure. There is not a doubt in our minds that things would have been different if we had stayed in Nashville or gone elsewhere. Dr. Kays is the best doctor in the world for this diagnosis. He saved our baby and for that we are forever grateful!

Charlie is now a happy and energetic 19-month-old. You would never know that he had such a rough start to life!