Eve Troy is a vivacious, bright, engaging, and fiercely independent 4-year-old. She is also deaf, unable to eat on her own (she is fed through a gastrostomy tube), has a serious eye condition, and has significant delays in motor (movement) skills, resulting from a type of cerebral palsy.
Eve was born with a rare condition called pontine tegmental cap dysplasia (PTCD), a disorder that involves developmental delays, cranial nerve dysfunction, and malformation of a part of the brain called the hindbrain. Developmental problems can include hearing impairment, ataxia (a lack of muscle control during voluntary movements, such as walking and picking up objects), language and speech disorders, feeding and swallowing difficulties, heart malformations, and facial paralysis. Only about 25 PTCD cases have been reported in the medical literature, and the cause is unknown. Ongoing research efforts are attempting to identify a genetic cause of the condition.
To address all of Eve’s medical and developmental issues, she sees multiple specialists at Rady Children’s Hospital-San Diego, all of whom have made a profound difference in her life.
“Since Eve was born, we have seen seven different specialists at Rady Children’s,” says Eve’s mom, Athena. “She has ongoing therapy with Developmental Services, has had surgeries and been admitted so many times I can’t even count. I’d say Rady Children’s is a second home to us. We actually bought a house near here. We’re here either in the Hospital or in one of the therapy offices at least twice a week, sometimes more.”
Dr. Colin Scher in Rady Children’s Ophthalmology Division treats Eve’s eye condition, called corneal anesthesia. Athena credits Dr. Scher with saving her daughter’s vision. “When Eve was almost a year old, she had developed ulcers on both of her eyes,” Athena says. “As she is deaf, vision is everything for her – we communicate in sign language. [Dr. Scher] took care of [Eve]. He sewed her eyes almost all the way closed for a couple of months, then took the stitches out and her eyes had healed. He was there for us. And he has been a great support and has exercised amazing judgment and has given her the best care.”
Rady Children’s physical therapists work with Eve to help her walk. With this therapy, along with support programs at her preschool, Eve has been able to walk using a reverse walker, and just recently, she was able to take a couple of steps on her own.
Development Services works diligently to provide integrated care. Eve’s therapists share goals and progress, and activities from one therapy session are incorporated into another. Heather Rose, Eve’s auditory-verbal therapist, talks frequently with her speech pathologist and also makes school visits twice a year to ensure that care is coordinated. Eve’s speech and occupational therapists are both incorporating activities to teach her to chew and swallow, and Eve has made progress, taking several bites of bread and swallowing them. While learning to eat with her mouth, Eve is seen by a gastroenterologist and nutritionist at Rady Children’s to track her growth.
With her cochlear implant, which was surgically placed at Rady Children’s by Dr. Daniela Carvalho, Eve can hear some sounds. She also receives auditory-verbal therapy from Heather Rose to help her learn to listen and speak, but her primary mode of communication is American Sign Language (ASL). Eve is enrolled in the deaf and hard-of-hearing special education early childhood program at Lafayette Elementary School.
Athena is grateful for the care and tremendous support that Eve has received.
“It’s really been a community here that we’ve relied on,” Athena says. “Eve’s a happy child. She is happy and growing. She’s had wonderful medical care. We are so fortunate to live in San Diego.”
Originally published June 2015
*Note: PTCD Info from US Department of Health & Human Services / National Center for Advancing Translational Sciences