As a nurse practitioner in Cincinnati Children’s NICU, I meet parents on their happiest and most challenging of days. They’ve just welcomed a new baby into their family, but things aren’t going the way they’d hoped.
It’s my job to care for their newborn and help parents through both the medical and emotional roller coasters. It’s truly an honor. And while I’ve always had empathy for what they’re going through, I couldn’t truly understand until I’d been through it myself.
And what a roller coaster it was. I became a patient of the Cincinnati Fetal Center after an abnormal ultrasound at 20 weeks. I was pregnant with our third child, Elle.
It Started With An Abnormal Ultrasound
Through this routine screening, we learned that she had a really small chin and a possible issue with her heart. Upon further evaluation with an MRI, we discovered that her jaw was so small that she would need to be delivered at Cincinnati Children’s and have a breathing tube placed immediately. Thankfully, a fetal echo showed that her heart was normal. We weren’t certain what else could be wrong, but she was at risk for genetic problems as well.
Because of that, a whole team of specialists was assembled and a plan for delivery was put into place. Genetics, maternal fetal medicine, fetal surgery, ENT, and neonatology were all involved. I would have a procedure during delivery called a “procedure on placental support.” We opted for this, rather than an EXIT (Ex Utero Intrapartum Treatment) to Airway procedure. With an EXIT procedure, I would have been under deep anesthesia, and wouldn’t have been awake to see Elle being born, nor hear her cry for the first time.
This was important to me because we really didn’t know the full extent of her condition. My biggest fear was being under general anesthesia during delivery. I was afraid that if Elle didn’t make it after she was born, I wouldn’t have gotten the chance to meet her.
It was around this time that the gravity of the situation started to hit me. I started thinking about everything we wouldn’t have a chance to experience because of her fetal condition. Holding her right after delivery. Getting pictures right after she’s born. Taking her home after a couple of days. I never thought about how precious these typical things were until I realized I wasn’t going to be able to have them.
Receiving Support From Friends, Family, and Former Patients
We knew we would have our friends and families supporting us through this difficult time. But what we didn’t expect was many former patient families reaching out. You see, my husband is a neonatologist and co-director of the Cincinnati Fetal Center. And we were overwhelmed by the number of encouraging letters, phone calls, and messages sent to us. Former patient families giving us similar advice that we had given them many years back. This outpouring of love and support carried us through to the delivery.
The morning of Elle’s delivery, October 17, was so surreal. I was rolled into the operating room and all of my friends were there. I looked over to the spot that I’m usually standing in for surgeries and a colleague was in my place. It was odd to be on the other side of the curtain, yet so comforting being surrounded by everyone I know and trust.
After she was born, I desperately waited to hear her cry. I knew if she cried that meant she could breathe and it would be a step in the right direction. When I heard it, it was the most beautiful sound ever and I breathed a huge sigh of relief.
After a brief evaluation by Dr. Rutter from ENT, he was able to place a breathing tube. This was also good news, because it meant that she could most likely avoid receiving a tracheotomy.
Elle’s Diagnoses: Mutation on the ECEL 1 Gene, Pierre Robin Sequence, Arthrogryposis
We knew that Elle had a small chin and a cleft palate, and were relieved that she wasn’t facing a major chromosomal disorder. But they did find after her initial exam that she had some contractures of her fingers. She couldn’t open them. That led to a diagnosis of distal arthrogryposis. It sounds very scary and I immediately wondered if Elle would be able to walk and use her hands. Fortunately, we learned that patients with the type Elle has typically have a normal life span and intelligence.
She had a further microarray study and whole exome sequencing, to determine if there was an over-arching genetic mutation to help explain her condition. The geneticists found a mutation on the ECEL 1 gene. Both my husband and I are carriers of it. This explains the genetic cause for the distal arthrogryposis, and is known to be associated with a small jaw and cleft palate, also called Pierre Robin sequence.
Elle’s Reconstructive Surgeries
Elle has been in and out of the OR since birth. When she was two weeks old, she went in so that the surgeons could have a closer look at her airway. At four weeks old, she had jaw distractors placed to help open her airway and lengthen her lower jaw. When she was six weeks old, she had her breathing tube removed and came home four days before Christmas. Then she went back in February, at four months of age, to have her jaw distractors removed.
How Elle’s Doing Now
Despite all of her diagnoses and surgeries, Elle’s condition is on the mild end of the patients we have read about. We’re so thankful that she’s doing well. She has a few more surgeries in her future, including a palate repair and g-tube placement, but we’re prepared for them.
I’m used to taking care of patients like Elle in the NICU, but it’s different doing it in my own home. It puts a strain on my ability to accomplish other things, like trying to keep a clean house, taking care of our other children, and spending time as a couple.
Having Elle has taught me more about what our families experience than my role as a nurse practitioner ever could. At the end of the day, happy, healthy children are so much more important than a perfect household or any material possession. A NICU admission is hard no matter how prepared you think you are, or even if it is what you do for a living. I recommend that families take this roller coaster a day at a time and lean on their family and friends for support.
An update from the editor: As of September 2019, Elle is thriving. She is beginning to eat on her own and loves running around. In fact, she is doing so well that currently one of her favorite activities is pestering her big brothers!