Brielle’s Story - Congenital Diaphragmatic Hernia

Our daughter Brielle was diagnosed with CDH at our eighteen-week anatomy scan in Massachusetts. We were in disbelief. She was our miracle after three losses and a round of IVF. How could this be happening? We were very fortunate our home MFM diagnosed the hernia so early. So we were able to do extensive research to find Brielle the best care.

All of our research led us to Dr. Kays at John Hopkins All Children’s Hospital in St. Petersburg, Florida. We found out she had a central hiatal hernia with about two-thirds of her stomach and spleen in her chest. My husband and I made the decision to break the lease on our apartment, move in with my in-laws in New Hampshire and then relocate with our dog Paisley to St. Petersburg to get Brielle top care.

We had a scheduled induction date for November 14, 2022. I labored for almost 24 hours before Brielle’s cord prolapsed. Between being rushed to the OR and her being delivered was 7 minutes. It was an extremely traumatic experience, and I don’t remember meeting Brielle that night because I was pumped with fentanyl and ketamine. Brielle was a champion though - she did not need to be intubated after birth. She was taken off oxygen on day four of life and was on room air for the remainder of her hospital stay.

Fast forward to day seven (11/21/22) of life when Brielle has her repair. Both Dr. Kays and Dr. Smithers performed her surgery laparoscopically which took about 4 hours. She did great and came back to her room, already extubated. We started feedings on day nine of life. She had some trouble (and still does) with reflux, and there was a point in time when she plateaued on the volumes she was taking in. With time, patience, and an amazing care team, she started taking in more. By discharge, she was taking in around 65 mL at a time.

The day of discharge had a few surprises. A few days prior, we found out Brielle has the CFRMS gene through her metabolic screen. I am a carrier of Cystic Fibrosis, but my husband is not, so during IVF testing, we were told that our children could not have CF but could be carriers. Apparently, our IVF tests didn’t cover ALL variants/mutations of CF. The pulmonologist at JHACH told us that it is still unlikely Brielle has CF, but there is a very small chance she does. He ordered a sweat test to be done. Essentially they gather her sweat and test the chloride levels in it. We were so thankful when the test came back negative.

Additionally, when she had her discharge exam by the neonatologist, she found a sacral dimple. She mentioned that they are usually nothing but wanted to do an ultrasound on it to be sure. Once again, we were so thankful when those results also returned as normal.

Brielle was discharged from the hospital on December 9, 2022 (a 25-day hospital stay)!

Throughout my pregnancy with Brielle, we were told she had a cervical spine abnormality. Specifically, the doctors weren’t seeing the natural curves in her neck, and the bones were spaced further apart than they typically see. We have noticed that Brielle tends to favor turning her head to the right and has torticollis. We have been working on stretching her neck muscles during tummy time and after diaper changes.

Our sweet miracle has overcome so much in such a short amount of time, and my husband and I are so proud of her. Being a CDH mom on top of being a first-time mom has been a rollercoaster, but this sweet face makes it all worth it.