“Smart, strong & brave”: Evie Stephens of LaPlace, 14 months, lives with CHARGE Syndrome
Published 12:11 am Wednesday, February 28, 2018
LAPLACE — Little Evie Stephens of LaPlace has been a fighter since the day she was born, having come into the world kicking wildly despite doctors expecting her to be limp and breathless.
Blue in the face, she was rushed to the NICU shortly after to treat breathing issues caused by heart abnormalities first observed during a 20-week prenatal check-up.
It was the beginning of a rocky road filled with challenges, curve balls and a sense of hope for new parents Anna Grabow and Steve Stephens.
At only 14 months old, Evie has nine surgeries under her belt and a cochlear implant procedure scheduled for March.
She was born with CHARGE Syndrome, an extremely complex genetic mutation of the CHD7 gene affecting approximately one out of every 10,000 births.
There’s a high degree of variance in the medical and physical symptoms displayed by children with CHARGE, Grabow said, adding Evie’s particular mutation is one never before recorded in medical history.
In honor of National Rare Disease Day, observed the last day of February annually, Grabow hopes others become aware of medical and developmental challenges that come with CHARGE Syndrome.
First used in 1981, the name “CHARGE” identifies a cluster of features including Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of Growth and development and Ear abnormalities and deafness.
Evie is deaf in her left ear and blind in her left eye, with significant hearing and vision limitations on her right side and coloboma malformations on the backs of both eyes.
A feeling of imbalance comes along with inner ear malformations where nerve endings don’t connect, contributing to developmental delays in movement.
Developmentally, Evie is on par with a 7-month-old, according to Grabow.
She said Evie’s recent heart surgery, a Rastelli procedure performed in December, has allowed her to come off the ventilator she’s been connected to since birth, allowing for a greater range of motion.
Without her heart having to do twice the work, Evie has been revitalized in recent months, and Grabow is confident her daughter will hit developmental milestones at her own pace.
“She’s rolling over now since the surgery and sitting up with less and less support,” Grabow said. “She has hit every goal and exceeded it since the day she was born, in her own time.”
From interactions with other parents online, Grabow has found resilience to be a common theme shared by children with CHARGE Syndrome.
“Evie is so smart, strong and brave, and that’s a shared trait,” Grabow said. “‘Little Chargers’ have so much fight and determination.”
The road toward progress hasn’t been easy. While Evie was in the PICU, Grabow and Stephens would receive calls in the dead of night from doctors asking for permission to attempt procedures and blood transfusions.
Sometimes the PICU shut down for Evie’s medical emergencies as Grabow sat in the waiting room, distressed and fearing what went on behind closed doors would culminate in funeral plans.
Grabow said Evie threw the hospital staff every curve ball possible, unable to take a bottle and eventually requiring a feeding tube.
Through regular meetings with Early Steps intervention therapists, Evie is working on feeding and communication.
Speech therapist Maria Stelly said Evie’s progress results from a caring family.
“Anna is such an awesome caregiver for her child,” Stelly said. “It’s quite evident Evie is where she is because of her mom implementing what we do through Early Steps.”
Stelly has worked on tactile stimulation to alleviate sensory issues common in tube-fed babies.
Massaging Evie’s face, building a suck-swallow reflex with her pacifier and giving her a taste of sour lemons and oranges to contract throat muscles have helped her with feeding, Stelly said.
Evie is beginning to take baby food from a spoon and communicate through basic sign language to request more.
“Even in just the way she looks since her last surgery, you can see she’s thriving,” Stelly said. “Don’t see her for her disabilities, but for her abilities.”
Grabow encourages those who come across Evie in public to open a dialogue by asking questions instead of avoiding eye contact.
“Be accepting of anything you see,” Grabow said. “It’s OK if people are different. I feel 100 percent more comfortable when people are willing to learn.”
Evie’s grandmother, Julie Grabow, said it’s up to parents to teach their children to accept those who look or act different.