Emma's Story - Congenital Diaphragmatic Hernia (CDH)

The winter of 2000 was full of excitement and change for the Gallagher family. Anne was pregnant with our second child, and we decided to put our new home in Minnesota up for sale and relocate to Arizona. Early in 2001, Anne began prenatal care in Minnesota. At sixteen weeks (March 2001), Anne had an ultrasound to confirm the due date. A great ultrasound report coupled with the fact that our son born in 1998 following a perfect pregnancy gave us confidence for a second healthy baby. In late March, Anne started going to her new doctor in Arizona and after her first appointment, was sent for another "routine" ultrasound to check the baby’s development. The idea of being able to have a second ultrasound excited Anne and I, as we really were anxious to know if we were going to have another little boy or a girl. We knew in advance of our son’s birth and really enjoyed preparing for his arrival. During April, Anne was having a lot of morning, noon, and night sickness. When the day came for the second ultrasound, we were so excited, laughing and joking about possible names. We came up with some names for girls and could not agree on one name for a boy.

I remember sitting in that waiting room filled with so much hope thinking about the chance to have a second little miracle come into our lives and how truly blessed I felt. When it was our turn for the ultrasound, the technician started out by showing us the head, then arms, then legs and asked us if we wanted to know the sex of the baby. We both looked at each other with huge smiles on our faces and nodded yes! The baby was a girl! The technician suddenly stopped the ultrasound and indicated that something did not look right but wanted the doctor to take a look. She left the room to get the doctor leaving us in the room as our minds raced with the fear of the unknown. She came back in and said that we needed to move into another room where we waited a bit longer.

The doctor came in and proceeded to perform a level two ultrasound. He spent a long time looking closely at the baby, especially around the chest area. He then proceeded to tell us, in a very dry and unemotional way, that our little girl had a birth defect called a congenital diaphragmatic hernia, and that she would probably die shortly after birth. He quoted us very low survival rates, and then added that since her hernia was on the right side, the prognosis was even grimmer. We were heartbroken, very confused about what we were just told, and unsure about the future. That evening we decided to look up CDH on the internet to find out any information that we could about our baby's condition. We found several CDH sites but most of them were in medical jargon that was not easily understood by us and actually served to confuse and scare us even more. We also read many sad stories about families that lost their babies with this defect. I also found a research paper written by a pediatric surgeon at Shands' Children’s Hospital in Florida. This was a very technical paper full of medical terminology that we didn’t understand but one thing stuck out - a 92% survival rate.

The following Monday, I emailed Dr. Kays and Shands asking questions about CDH and treatment options. Dr. Kays replied with some information and an offer to call to discuss things further. I was put in touch with a wonderful woman named Janice who spent almost an hour with me on the phone explaining Dr. Kays' methods and his results. She also gave us names and phone numbers of three families with healthy babies that Dr. Kays cared for, the Firestones, the Toneys, and the Bunches. They were such huge blessings to Anne and I. They gave us hope at a time that we had none. They all spoke about their children and what they went through with Dr. Kays and how our baby had an excellent chance for survival under his amazing care. At this time, our families went to work. My sister Kathy tapped every medical resource she had to find out more information. Anne's mom, who was a Godsend throughout this whole process, asked Anne's Doctor in Minnesota to help gather more information. The Toneys, the Firestones, the Bunches and our families gave us their love, support, and friendship when we needed it most. After speaking with Janice, she suggested that I leave a message for Dr. Kays to call when he was finished with his hospital rounds. Not ten minutes after I hung up with Janice, Dr. Kays was on the phone. He explained CDH and helped me understand more of this birth defect and what we were facing. The next day we went back to meet with a perinatologist here in Phoenix. It was this doctor that told us about our options, most of which were very bleak. He said an amnio would have to be done before we could venture any further to check if the baby had any chromosomal abnormalities. He also suggested that if the amnio came back showing any abnormalities that the baby would not be a candidate for surgery and thus would have minimal chance of survival. He went on to say that we would then have to make a decision about continuing or terminating the pregnancy. Anne and I were shocked and angry that was even suggested. Terminating the pregnancy was neither the answer nor something we would even think to consider. Anne then started having bi-monthly and then weekly appointments, each time seeing a different doctor that gave us different answers to our questions and concerns. Many times, we received answers that were in conflict with the information that we received from Dr. Kays. Throughout this period, Anne was still feeling sick all of the time and was having difficulty catching her breath due to what we thought was the size of the baby. Every time Anne would mention this, her concerns were dismissed as “part of being pregnant." Finally, a subsequent ultrasound revealed that Anne had polyhydramnios - presence of high amniotic fluid level. To manage this, we were told that ultrasounds would now be done on a weekly basis, as it was important for the fluid level not to reach dangerous levels which could lead to pre-term labor.

At the end of April, Anne experienced pre-term labor and spent the night in the ER having been given terbutaline to stop the contractions. The next day, during our doctor visit, we were told that Anne’s fluid level was even higher, and the suggestion was to drain some of the fluid. As with everything in this pregnancy, drainage had miscarriage risks. We decided to wait and fly to Florida and meet with Dr. Richards and Dr. Kays to get more answers and get a better understanding of what we should do. The Toney family was so gracious and invited us to stay with them, and since their son, Caleb, had an appointment the same day with Dr. Kays, we were able to follow them right to Shands. Dr. Richards performed a level two ultrasound and then took us to his office and explained Emma's right diaphragmatic hernia in great detail, even drawing pictures of a "normal" baby's chest and abdomen and then drawing pictures of Emma's, for us to better understand. We also met some other families with CDH children who where there for follow-up appointments with Dr. Kays. What an amazing feeling we had to see these children running around and laughing. We were introduced to Heidi and Dave Gardner and their son, Sammy who was born that year in January at Shands. It was such a beautiful sight to see him sleeping very contently in his Dad's arms. Finally, after Dr. Kays had already put in a very long day, he was ready for us. We thought that we had flown all the way from Arizona to Florida and waited all this time and would probably get only a few minutes of his time. Boy, were we WRONG! Dr. Kays spent the next 2 1/2 hours going over every term, procedure and process involved in treating a CDH baby. Dr. Kays even brought us into his office where he had a huge bulletin board filled with pictures of children born under his care with diaphragmatic hernias. From those pictures, he proceeded to tell us each of their names, what they went through and how they were progressing. You could tell by the smile on his face that he has such a special place in his heart for all of these children. He then gave us a tour of the NICU showing us a couple of babies, explaining the machines that they were attached to and what they were doing for the baby. We said goodbye to Dr. Kays that afternoon, feeling for the first time that we understood what we were facing and what we needed to do. On the plane ride home, we started making plans for Emma to be born in Florida at Shands so Dr. Kays could take care of our daughter. After flying home, Anne's fluid level continued to rise and so did the occurrences of pre-term labor. Due to Anne’s increasing difficulty breathing and the ongoing contractions, we decided that we couldn't put off having fluid drained any longer. The procedure was very simple, putting a needle into Anne's abdomen and attaching a suction machine and removing the excess fluid. The doctor’s intent was to remove three liters of fluid, but he stopped at a little less than two liters due to Anne's extreme discomfort. After the procedure, Anne started contracting again which forced her to stay in the hospital overnight. Unfortunately, the amount of fluid drained had returned by the end of the week. Though we had already decided to deliver in Florida, we knew that the potential existed for Anne to go into labor at any time due to the continuing high amniotic levels. We knew we had to be prepared to deliver here in Arizona. We met with a neonatologist and a pediatric surgeon here in Phoenix who knew very little about Emma's condition and what the correct treatment should be. They gave us little hope, and we left feeling like we had wasted their time. We were hoping that this meeting might cause us to reconsider the trip to Florida. There was no comparison. One of the doctors promised to call us after he read a copy of Dr. Kays' paper that we left with him. The call never came. This doctor visit confirmed, that indeed, we made the right decision about traveling to Florida. In July, Anne's fluid level had risen to its' highest level and another amnio drainage was done. This time 3 1/2 liters of fluid were removed. Again, contractions steadily progressed, and she stayed overnight in the hospital again. Anne had some relief after this drainage, but it was short-lived. On the next ultrasound, the technician noticed membranes floating around. She went to ask the doctor in the office that day if it was something to be concerned about, saying some doctors don't like to see that, others don't think it is anything to worry about. The doctor in the office that particular day said it was "no big deal.” Knowing that we were planning to deliver in Florida, she called Dr. Richards, and it was decided Anne should head down to Florida the next day, about a week earlier than planned. So the next morning Anne was on a plane to Florida with an appointment to see Dr. Richards in two days. Heidi and Dave Gardner, the couple we met back in May at Dr. Kays' office, invited Anne to stay with them until I could arrive in a week and a half. On Friday, Heidi took Anne to Gainesville for her appointment with Dr. Richards. Dr. Richards was extremely concerned when he noticed the membranes floating near the umbilical cord, indicating it was very dangerous and in few instances, have resulted in the death of the baby. Anne went right from Dr. Richards' office to be admitted to labor and delivery in the hospital where she would stay until Emma was born. I flew down to Florida with our son Jack the very next day, and Anne's mom flew in Sunday afternoon.

On Monday, it was decided that a C-section would be done on Tuesday two weeks earlier than planned. Although the baby was only 36 weeks, she was already over 7 pounds. In the morning, the doctors came in and talked about what would happen during the C-section and what teams would be present. Anne was prepped and wheeled out the door to the operating room. Soon after, I was brought into the operating room with Anne and the C-section started.

There were about twenty people in the room ready to take care of my precious family. Within minutes, Emma was born, and we were lucky enough to hear three muffled cries, and then she was gone into a crowd of doctors and nurses waiting to intubate and evaluate her. Dr. Kays then brought her over for a quick kiss, and then she was off to the NICU. We waited several hours in the recovery room to hear any news. Finally, Dr. Kays came in and said that Emma was stable, and that the next few days would be critical and would tell us what direction treatment would go. Emma was born at 12:50 p.m. on July 31st, and I was able to go see her around 7:00 that evening. It was quite a sight to look at her heavily sedated and hooked up to so many machines. The next day proved to be even more difficult as Emma had her worst day. Emma spent the next several days in stable condition not fighting the machines, just letting them do their jobs. Dr. Kays decided that Saturday, August 4th, was going to be the day for her repair surgery. The surgery lasted about 3 hours, and then Dr. Kays came out and said that Emma tolerated the surgery well, having more than 50% of her liver up in her chest along with the small intestine and colon. A large gortex patch was used to cover over 75-80% of the diaphragmatic surface. Another hurdle passed, and Emma was on the road to recovery. Every day Dr. Kays would take chest x-rays and blood gasses and each one looked better than the previous.

Several weeks after surgery, Emma started some tiny feedings with pumped breast milk. She was able to take up to 20 cc. and then started refluxing terribly. An upper GI was done and confirmed that indeed she did have reflux, which was controlled with medication. This was great news as another surgery was thus avoided. After about 6 weeks, Dr. Kays said Emma could go home! On September 5th, I flew back to Florida, and then the following day, we all boarded a plane and flew home. Emma was on a very low setting of oxygen for about a month all of the time, and then on oxygen for another month just during the night while she was sleeping. Looking at Emma today just over 4 months old, you would never know all that she had been through. Emma is a very happy and smiley sweet gift from God that we treasure every single day and look happily to her bright future with us. Both Anne and I were amazed at the kindness of strangers, the willingness from so many to help, especially the many prayers that were said for our family and Emma. We know in our hearts that if it wasn't for Dr. Kays and the amazing doctors and nurses at Shands, along with all of the prayers, love and support from our families and friends that this story would have had quite a different ending. We feel very blessed!

Written by Emma’s Dad, Mike Gallagher 2001

Update from Emma’s Mom, Anne Erickson 2017:
Emma’s first Easter in April of 2002 was spent in the hospital. She had a bowel obstruction and had emergency surgery to repair it and at the same time had her appendix removed. Through Emma’s toddler years, she was in and out of the hospital on numerous occasions for the typical winter colds and viruses that she did not have the lung capacity and strength to fight off on her own. Her oxygen saturations would fall, and she would have fluid buildup and need to have support to recover. As she got older, the hospitalizations were fewer, and she would use a nebulizer at home when she would fall ill with a respiratory infection during the winter months. We moved back to the Twin Cities area back in 2004 to be near family and friends. She sees her pulmonologist, Dr. Paul Kubic bi-annually for regular check ups. He is extremely pleased with her progress and how well she is doing as a CDH patient of his. She is also seen by a cardiologist regularly for monitoring of her heart. In addition to her CDH, she was diagnosed with a heart murmur and her aortic and tricuspid valves had small regurgitations. When she was younger, she would become cold easily and her lips and nail beds would turn blue, so we held off on swimming lessons until she was in grade school. Fortunately, her prognosis with her heart is very good! One valve has closed on its own and she has not required surgery on the other valve. Emma is now 15 years old and a Sophomore in High School. She is doing extremely well all around! She plays on her high school’s JV tennis team in the fall and plays indoor tennis in the winter. Currently, she is taking driver’s ed and also works as a dining room server at an assisted living facility. She continues to amaze us every day, and we will always be forever grateful to Dr. Kays and his staff who took such wonderful care of Emma when she was born.