Isabel’s story
Written by: Lauren Collier
After nearly 5 years of infertility, losing twins, and IVF with genetic testing, my husband and I were equal parts excited and terrified that something would go wrong with our successful transfer. At our 10.5 week ultrasound I noticed what looked like a ball on the baby’s abdomen and the ultrasound tech assured me that this can be what is called a physiological gut herniation and the organs may return to the abdomen by 12 weeks. After what felt like an eternity, we returned at close to 14 weeks for a follow up ultrasound and the first thing I saw when they turned on the screen was her omphalocele, front and center, just like it had been a few weeks prior. At this point I had already joined the Mothers of Omphaloceles (MOO) group, which turned out to be a lifeline for our family this past year, and done a significant amount of research. We saw two local MFMs in the following weeks who confirmed her diagnosis and determined that the omphalocele contained all of her liver, bowels, and her stomach was in and out depending on the day. They explained that due to the size of her omphalocele and the liver involvement the prognosis is poor and they recommended we terminate our pregnancy and “use our other embryos instead”.
I first heard about Children’s Hospital of Philadelphia in the MOO group and asked for a referral immediately. I can remember the day I spoke with Deanna in their fetal center like it was yesterday, she gave me hope for the first time and talked me through our options for getting a third opinion. At 16 weeks, we flew to Philadelphia and had a very full day of testing including a 2-hour anatomy scan, an echo, and meetings with genetic counselors, surgeons, and MFMs. We were told here that we could expect a long NICU stay, breathing support, feeding issues, and potentially developmental delays but that most children with this diagnosis grow and heal from these struggles and go on to lead normal lives. They explained that lung development is typically the biggest factor for these babies and at 26 weeks I had a fetal MRI that predicted her lung volume to be 44%. They told us to anticipate her needing to be on a ventilator but did not expect her lung volume would be life threatening.
Pregnancy was incredibly difficult for me emotionally and I worked with a therapist at CHOP who provides free counseling to families being seen at their center for fetal diagnosis and treatment. I struggled with anxiety around ultrasounds and fear and grief about the possibility of losing my daughter. With support, I was able to take steps to prepare for her and connect with her in ways that I would have been too scared to do on my own. At 34 weeks pregnant, Isabel’s dad, Rick, and I loaded up a U-Haul with most of our things, our dog, our two cats and relocated to Philadelphia in a move with no known end date and no predictable outcome.
On March 23, 2021 at 9am Isabel was born by scheduled C-section. She was immediately taken to be stabilized in a room connected to the OR, initially put on CPAP and then moved to high flow nasal cannula a few hours later. She never needed to be intubated but did require high flow or low flow nasal cannula until she was about 4 months old. Her NICU stay was 3.5 months long and filled with issues like infection markers without an identifiable cause, feeding intolerance, and tachypnea (fast breathing). She then moved to their infant transition until and stayed another 2 months working on moving her feeds from her intestines to her stomach and getting off of oxygen. She had G-tube surgery prior to repair, being the first O warrior at CHOP to have this done, and finally came home on September 14th.
We struggled with ongoing reflux until she was fully repaired on November 1st at 7 months old. She came home for the second time on December 10th after a respiratory virus kept her in the hospital for a few extra weeks and has been thriving ever since. She is the most easy going and happy baby I have ever met. I have never felt the kind of love and joy that she brings to my life and I would go through this whole journey 10 times over for her.
Hang in there fellow moms and dads of omphaloceles, these babies are truly miracles.
