Lillyth’s Story - Congenital Diaphragmatic Hernia (CDH)
On May 1, 2020, I took a pregnancy test and got my first positive result. My heart could have exploded. After years of struggling with infertility due to PCOS (along with getting weight loss surgery and a gallbladder removal), it was finally my turn, and I was determined to love every second of this pregnancy!
The first 17 weeks were standard, but I must admit it was hard to enjoy the morning sickness and acne, but I did the best I could. At 17 weeks, we went in for a scan. We didn't care about the sex of the baby. We just wanted some cute video. We noticed the tech was really zeroed in on the diaphragm and organs, not exactly *cute* places like that little button nose or hands and feet, but I didn't think too much of it until they pulled us into a room and we heard "Congenital Diaphragmatic Hernia" for the first time.
We were referred to an MFM doctor to confirm the diagnosis. After an amniocentesis and the most detailed ultrasound ever, our miracle baby was diagnosed with CDH. Suddenly this joyous pregnancy had a looming sense of doom. The talk of survival and termination seemed unreal, and it felt as though I was watching someone else's story.
Most of this diagnosis while pregnant was "hurry up and wait." We had to wait for the baby to be bigger to see the severity of the condition, but we were monitored very closely. Once we found out her case was severe, the FETO procedure was brought up. Less than a handful of hospitals even perform this surgery, and all signs were pointing us to Texas Children's Hospital. So, after many phone and Zoom visits, we packed up and made the trek from Idaho to Texas.
We decided to do the FETO procedure because if it was successful, it *could* raise our baby's chances of survival from less than 15% to 30%, and we had to try. Granted, this surgery could also put me into early labor in which she wouldn't survive. Still, we felt compelled that this was the way forward.
A few weeks after the procedure, my amniotic fluid began to leak, and I was admitted to the hospital and felt like a time bomb knowing that my fluid could burst at any time. I knew she needed more time to grow. That month in the hospital was hard, especially being away from family during the holidays and in a situation that seemed like it should be handled by someone way more mature than I was. Still, I always had my little girl in my mind (we found out it was a girl after her genetics screening came back normal from an excited but misinformed nurse who didn't ask if we knew/wanted to know the sex). I knew that I would do everything in my power to help her.
On the morning of December 3, 2020, I woke up to wee because of pregnancy and saw blood in my urine. After an ultrasound, it was determined that we would be removing the FETO balloon to see how our baby had reacted to the procedure. Unfortunately, the FETO procedure hadn't helped Lillyth, which we knew was a possibility, but it made her coming into this world much scarier for us. During the removal process, doctors were unable to access and remove the balloon the way they put it in, so they put me under general anesthesia and performed an emergency C-section. Time was of the essence, and neither my husband nor I were there to see our daughter coming into the world. She was intubated within seconds of life, and Josh met her only briefly before she was put on ECMO at 4 hours. Her hernia repair was scheduled for the next morning. I didn't get to see my girl until before her surgery the next morning.
Lillyth spent 25 days on ECMO. The team at TCH handled every problem that came up with quick out-of-the-box solutions that, without a doubt, saved her life. After ECMO, a heart surgery, and a tracheostomy/g-tube placement, five months had passed, and Lillyth was finally stable enough to transfer to a hospital closer to home in preparation for her coming home.
There is no doubt in my mind that had she been born anywhere other than TCH, Lillyth would not be here today. We are so thankful for the team there.
Lillyth is now 15 months old and thriving! She is a very happy, silly, and busy baby. She works with therapists to help her overcome her delays from being in the NICU, but she defies the odds like she has from the beginning, showing everyone what she can do! I'm in utter awe of her daily, and though this journey is far from over and not at all what I had in mind when considering motherhood, I feel that our family was so blessed.
Further genetic testing from TCH revealed that I have a rare mutation of the MYRF gene that I passed to her that is most likely responsible for her heart defects and CDH. Armed with that knowledge, my husband and I can plan our family to avoid passing this gene onto another child.
Lillyth Fyre is a miracle. Every CDH kid is, in my opinion, no matter what their outcome is. We've learned to pour all of our love onto this child because we understand that tomorrow isn't promised. It's been a terrifying journey with moments of pure love and joy. Being parents of a medically fragile baby during a global pandemic is less than ideal but knowing that there was such a small chance of us getting there in the first place makes me feel so humbled and lucky.
