Rare Genetic Diagnosis Fills Idaho Family with Gratitude for Caregivers at Intermountain Primary Children’s Hospital

What resulted in being a month-long stay at Intermountain Primary Children’s Hospital also create extra feelings of gratitude this holiday season for a Eastern Idaho family.

Three-month-old Revie was recently admitted into Intermountain Primary Children’s Hospital for what was an unknown condition that had her mom, Brittainy Moala, concerned about her since delivering Revie in Idaho.

“I struggled with my little Rev, I worried about everything with her,” said Brittainy. “I’m usually a pretty carefree person and let my kiddos just live, but with her I was terrified that something was wrong. She was not okay.”

Despite suggestions by doctors in Idaho that Revie’s health was normal and didn’t have apparent medical issues, Brittainy found herself unsettled. Revie was born smaller than an average baby at 4 pounds without any NICU care, but showed signs of a potential anomaly.

At Brittainy’s six-week postpartum exam, her provider expressed that she was worried she was spiraling and that she was possibly experiencing postpartum depression with sleep deprivation because Revie was deemed healthy.

Brittainy experienced a middle of the night prompting to take Revie to the emergency department resulting in her being connected to Intermountain Primary Children’s Hospital in Salt Lake City, where Revie was transferred and diagnosed with blindness in her right eye.

Revie was later admitted to Primary Children’s Pediatric Intensive Care unit (PICU) where she was assessed and received laser eye surgery for her right eye.

The ophthalmologist resident who screened Revie in the PICU did a more thorough screening of her eyes – even after he initially thought her eyes looked normal. He dilated her eyes with dilating drops where he was able to discover that she had additional issues, in addition to the blindness.

“She needed early intervention to stop the damage and give her the best chance at potential vision one day. When I heard that she was blind, it all made sense,” says Brittainy. “I thank him everyday for taking a deeper look!”

Additional tests were performed, and Revie was additionally diagnosed with 4Q Deletion and Duplication syndrome, a rare syndrome.

Following the diagnosis, Revie’s parents were given the opportunity to participate in the HerediGene: Population Study to determine if there were genetic anomalies that ran in the family and if Revie’s older sisters were at a potential risk of dealing with something similar in the future.

“I thank the doctors at Primary Children’s Hospital who looked deeper, asked questions, and looked for understanding from us so we could find an early diagnoses and get the intervention we need,” said Brittainy.

However, the Moala family gratitude didn’t end with one individual. Many caregivers in the Primary Children’s Hospital PICU worked around the clock to care for Revie – from physicians, nurses, therapists, technicians, and others, played such a pivotal role in Revie’s diagnosis and ongoing care.

The family was particularly touched and felt an imprint left on their hearts by Primary Children’s Hospital PICU nurse, Kevin Fazendin, RN.

“In the PICU, Revie was really cold. It was hard to see our baby lifeless and paralyzed. It’s the small things that matter most. Our nurse, Kevin, took it upon himself to find her a cute hat to keep her warm.

He also got her a NICU baby warning bed to ease our worries,” said Fatu Moala, Revie’s father.

“Rev wasn’t just his ‘patient’. He treated her like his own. He cared for her the way I wish I could have in those moments.”

Fazendin explained that Revie’s condition was a unique one as it became a challenge to ensure she received the proper care with how small she was.

“Revie had the smallest breathing tube that is made,” he said. “There’s no smaller one. For multiple days, we had to try to extubate her, and that failed, so we had to reintubate her and extubate again. As a result, our team had to place in the smaller tube until her swelling decreased and we were able to protect the tube in her airway the whole time without any complications.”

“In the 12 years of being a respiratory therapist and a nurse. I’ve only put in one tube that size,” Fazendin noted. “That’s how uncommon this is. A lot of the staff at the PICU had never seen such a small tube and we had to ensure it wasn’t moved with the multiple procedures Revie had. With my knowledge and the staff’s knowledge, we were able to get the new breathing tube in without zero complications.”

The family says Fazendin’s charisma, detail, and humor helped ease their nerves throughout Revie’s hospital stay.

The familial bond they gained with him is one that the Moala family say they will carry with them for the rest of their lives – so much that they want to pay a tribute to Kevin and the impact he made by naming a future child that enters their family after him.

“We joked around and said we were considering changing Revie’s name to ‘Revin’ after Kevin, but we are absolutely giving our next child’s name a tribute to Kevin by naming them after him,” said Brittainy. “It was the small things that he did that showed us she was more than a patient. Not only did he provide her with heat packs, and new linens, and apply Chapstick on Revie, but he even brought a noise maker that made the sound of ocean waves because he knew she liked the sound of the ocean. He was detail oriented and made the scary things seem easy. He had a way with making Revie seem important always.”

“I’m 100% honest with my patients. I will update and tell them all I know,” said Fazendin. “The Moalas are all family and mean a lot to me. My experience caring for Revie and the family paid off for the 12 years I’ve been a respiratory nurse for. They know that if I ever travel through Idaho, I’m gonna go meet up with them.”

Due to Revie having a rare genetic diagnosis, she and her family will continue to travel to Utah for monthly checkups with various specialists that will continue to result to new findings.

“Thank you, Intermountain Primary Children’s Hospital, for not only caring for Revie, but for loving her. Thank you for treating her like your own. You all have forever impacted our lives, but more importantly our hearts,” said Brittainy.

About Intermountain Healthcare

Headquartered in Utah with locations in eight states and additional operations across the western U.S., Intermountain Healthcare is a nonprofit system of 33 hospitals, 385 clinics, medical groups with some 3,900 employed physicians and advanced care providers, a health plans division called SelectHealth with more than one million members, and other health services. Helping people live the healthiest lives possible, Intermountain is committed to improving community health and is widely recognized as a leader in transforming healthcare by using evidence-based best practices to consistently deliver high-quality outcomes at sustainable costs. For more information and updates, click here