Lilly's Story - Congenital Diaphragmatic Hernia (CDH)

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Lilliana “Lilly” Michelle Johnson was diagnosed with CDH on November 3, 2014 at our routine anatomy scan. This being my third child, I knew that the ultrasound tech was spending an inordinate amount of time looking at her chest cavity. When the maternal fetal medicine doctor entered the room it confirmed my fear that something was wrong. After the tech finished, the doctor asked me to sit up and that was when I first head the words Congenital Diaphragmatic Hernia. The doctor explained the mechanics of the defect and that my daughter would need surgery after she was born. I was in shock. I had never heard of this defect and I had no idea what questions I should be asking. The doctor recommended follow-up testing and when I asked her how soon it needed to be done, her response was “well that depends on whether you would like to terminate the pregnancy.” Lilly’s father was outraged! How could this doctor suggest that we terminate our beautiful child just because she had a hole in her diaphragm? It wasn’t until we left the office and searched the condition on Google that I realized just how serious this condition was.

Luckily that same night while I frantically searched the internet for information, I came across the old Real Hope for CDH page. On there I read all about Dr. Kays and his success rate. The next morning I posted a question on the Cherubs Facebook page asking other parents what I should know about the condition and what I should do to prepare for her birth. I received multiple responses that mentioned Dr. Kays and quickly got in touch with Joy, Dr. Kays’ program manager. From the moment I spoke with Joy, I felt so much better. She put me at ease and made me feel like there was hope for my child—something I very much needed. 

After meeting with Dr. Kays and Joy, it was clear to me that he was the doctor that needed to be in control of Lilly’s treatment. From there we had all the tests run. The amniocentesis showed that she was free of chromosomal issues. The fetal echo showed that there was a chance of a small VSD, but other than that her heart seemed to be functioning just fine. The MRI was the test that came with the bad news. Lilly’s defect was very severe, her liver was up, and her LHR was less than 1%. Dr. Kays was very upfront about the severity of her case, all while telling me that he still believed that she had a chance and that he would do everything he could to make sure she survived.

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Late in my pregnancy I developed polyhydramnios (excess amniotic fluid) which is common for women carrying a CDH baby. At 34 weeks and 3 days the pressure came to be too much and I got a tear in the amniotic sac. I was very concerned about her being born too early, but Dr. Kays assured me that while it was an additional challenge, she was not doomed. Lilly was born February 27, 2015 at exactly 35 weeks weighing 4 lbs. and 1 oz., just big enough to go on ECMO if she needed it and it was a good thing because just 12 hours after birth, she was in need of being placed on ECMO. She spent the first 8 days of her life on ECMO and was removed from the machine on March 7th, which just happens to be my birthday. Listening to the voicemail of Dr. Kays telling me that my girl was off ECMO was the best present ever!

Dr. Kays did her repair surgery the next day. He was not thrilled when it was over. Lilly barely had any left diaphragm at all. He said maybe 2%, so her patch would be sewn mostly to her ribs. She had some bleeding issues during surgery, which he was able to stop thankfully since she was no longer on the ECMO blood thinners, but there was no room in her abdomen for her organs so he was concerned that even though he did not sew up her muscles, just the skin, he was not sure if they had enough room to function. Luckily within an hour our little Lilly showed us what a fighter she was! She had peed, which was a great sign that things were working. At that point, Dr. Kays let me know that the next couple of days were crucial. If she needed ECMO again, he was not sure that she would survive it, so we had our fingers crossed she would not need it.

From that point on, Lilly began to improve slowly. Day by day her numbers got better, medications were weaned, and ventilator support was decreased. We celebrated as she graduated from the vent to high flow and down to the regular O2. I was thrilled to get to hold her for the first time on March 23rd, which was her due date. Then we started feeding. This was the long and tedious part of the battle that I did not expect. We spent a long time with PT, working on getting Lilly to eat enough by mouth to gain enough weight to get discharged. On May 20, 2015 Lilly was released from the hospital. I could not have been more excited to take my girl home and reunite our family. Unfortunately my excitement was short-lived. After just 8 days home, Lilly stopped breathing after drinking her bottle. I was able to use the skills I learned from my crash course on infant CPR from the hospital to revive her. She spent 4 more weeks in the hospital where she underwent treatment for pneumonia (which resulted from the aspiration) and also had a Nissan fundoplication surgery to prevent reflux and had a G-tube placed. On June 27th, she came home for the second time. I went back to work finally and things seemed to settle into a new routine. On August 14th, my parents took all three of my kids for their first sleepover since Lilly came home. That night I got the call. Lilly had stopped breathing again. I rushed to the hospital, but this time my luck had run out. Although my Dad was able to get her breathing again, her heart stopped at the hospital after they intubated her and they could not get it started again. The stress had been too much. Lilly earned her wings after 169 days on this earth.

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I struggled to write this story for the Real Hope for CDH website because Lilly’s story did not turn out the way that these other babies’ stories did and the last thing I want to do is scare parents who we are trying to bring hope to. However I feel it is important to share her story and the reality of CDH. Despite the best treatment in the world, nothing is a guarantee. I can tell you though that every one of Lilly’s 169 days were precious to me, especially the 8 weeks we spent with her outside of the hospital. I can also tell you that I owe all of the precious memories I made with Lilly to Dr. Kays and Joy. I know that I would not have had that time with her if Dr. Kays had not treated her. It also feels good as a parent to have the knowledge that I did all I could for her. She deserved the best. By seeking out Dr. Kays, I gave it to her.

If you are expecting a CDH baby, I implore you to come to Florida and let Dr. Kays give your child the best possible chance at a quality life. As a parent who is in an infant loss group with many other CDH mothers, I can tell you that the last thing you want to feel, if heaven forbid your child doesn’t make it, is regret that you did not do more to seek out the best care for your child. My group has over 100 members, most of which lost a baby to CDH, I think other than myself there is only one other mother who ever got to bring her child home from the hospital. Most of these mothers hold their babies for the first time while they are saying their goodbye. It is absolutely heartbreaking, especially for me, since I know that the outcome for so many of these babies would have been much different with the right treatment. Continuity and quality of care is extremely important to the survival of a CDH baby. Give your baby the best chance at life with Dr. Kays.

If you have any questions that I did not answer in this story, I am happy to talk to you more in depth about your decision. You can email me at mbeaubian@gmail.com.

Wishing you and your baby all the best!

Michelle Beaubian

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Samuel's Story - Congenital Diaphragmatic Hernia (CDH)

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Ethan's Story - Congenital Diaphragmatic Hernia (CDH)