Anya Mae's Story - Congenital Diaphragmatic Hernia (CDH)

"...will always be behind the eight-ball."

"In the extremely unlikely circumstance the infant would survive, she undoubtedly will have severe neurological damage."

"...ethically optional to treat..."

These are all statements made by physicians at a nationally recognized children’s hospital in my hometown. I heard them before my daughter was even born. At the twenty week ultrasound, where most moms come out celebrating that their unborn baby is healthy, I was told mine wasn’t.

Anya Mae had CDH, a defect where the diaphragm doesn’t develop properly early in pregnancy. Organs from the belly are able to move into the chest and crowd the lungs, making lung growth difficult, if not impossible. What was worse, Anya’s case was more severe than most, with her liver in her chest. Anya would have very little lung tissue to breathe with, only 21% from the MRI report. From the beginning we were given very little hope that she could survive.

I obsessively searched the internet for stories of a CDH baby with liver up who survived. For a long time, all I found were memorial sites of infants who had died. I would put the computer down in frustration, only to pick it up again a few minutes later. Then one day, I followed a lead: "Real hope for CDH" the title claimed. Probably false, but I had to check it out. I had found Dr. David Kays. There were pictures of healthy looking kids and their stories. Many were as severe as Anya! I contacted a few of the families and was reassured. They all told me he would do everything he could. I emailed his office asking for more information.

That SAME DAY Dr. Kays called me himself. He spent over 30 minutes talking to me over the phone about Anya’s condition. We had done a lot of workup already. Dr. Kays thought she definitely had a chance at life. We flew from St. Louis Missouri to Florida for a consult. He did agree that she was severe but he thought she had a 65% chance at survival, and then a 90% chance at a normal life. He spent a considerable amount of time discussing a treatment plan, a real action plan, what challenges she would face and how he would approach them. He spoke at length on what he did to preserve brain function. This was so different than what we had heard at home! My husband and I made all the arrangements so we could relocate 900 miles away for Anya’s birth and NICU stay. Our four-year-old stayed with her grandparents. My husband was able to work remotely in Florida. Our pastor came down for Anya’s birth. The moment after Anya was born she cried. Actually cried! We were previously told she would not have enough lung to make a sound.

Anya spent 96 days in the NICU. She had her repair surgery on her first day of life. She went on ECMO, heart and lung bypass, only two hours later. ECMO carries with it a significant risk of bleeding, but Dr. Kays saw her through. She needed ECMO for 30 days, a long time for ECMO. Many hospitals limit ECMO to a few weeks, and then stop ECMO, thinking there is no possible way the babies will survive after that time. That is one of the reasons we were told Anya couldn’t survive.

She had several more surgeries. The long ECMO run caused her to bleed into her chest. Dr. Kays operated on her to remove a huge clot that had developed and wasn’t letting her breathe. She needed a feeding tube placed and Nissen, which prevents severe acid reflux. She was intubated for over two and a half months. Finally, we were discharged home to St. Louis. Anya needed oxygen and tube feeding, but we had our girl!

Her medical issues did not end with her discharge from the NICU. Dr. Kays prepared us for that first winter. He told us she would be in the hospital a lot. She was admitted six times, needing more oxygen than we could give at home. She has some developmental delays, all motor skills. She had to breathe so hard when she was small she didn’t have the energy for normal development. She has some other medical issues: she needed a stent to a blood vessel near her heart, she has severe scoliosis that she has a growing rod for, she needed hiatal hernia surgery, and her thumbs are weak. Anya is four now (as of 2016) and thriving. Every single month, every single season, she shows improvement. No one ever guesses that she is anything other than a normal child. The oxygen was stopped at 18 months. She occasionally needs it when she is ill, but this is becoming more and more rare. She still gets tube feeding; eating has been a challenge for her. She gets speech, PT, and OT for her development. Everyone agrees that she will catch up soon. Every week she masters a new skill. She is constantly adding words to her vocabulary. She loves Doc McStuffins and says she wants to be a "Baby Nurse" when she grows up. She is the complete opposite of what the original doctors said. She is not neurologically damaged. She is a survivor.

Many people call her a miracle, and I agree she is in many respects. I hesitate to call her that because it draws attention away from Dr. Kays and his staff. He put in so much additional time to see her through so many hurdles. Even now that we are home, we will consult him. His nurse Joy has been a godsend. We go yearly for follow-up appointments. The main reason Anya survived was the life’s work of Dr. Kays. He has endless energy, a desire to push the envelope to improve survival of the sickest CDH babies, and a strong belief that all CDH babies deserve a chance at life. I thank God every day that he led us to Dr. Kays.

 Please read more about Anya Mae’s story at: anyamaesstory.blogspot.com.