Eve has kept her parents on their toes since she was born.
As a newborn, she couldn’t eat, wouldn’t breastfeed and struggled with a bottle. At a hospital in San Diego, where her parents were living at the time, doctors also discovered that Eve had an anatomical defect that impacted her digestion. She had surgery to fix this defect and received a gastrostomy tube (G-tube), a feeding tube that enters the stomach through a small opening in the abdomen, so she could get the nutrition she needed to grow.
Her parents also learned that Eve was profoundly deaf.
Then, when Eve was 3 months old, her mom noticed her eyes were cloudy. Since Eve had already been diagnosed with hearing loss, her parents were concerned that the primary way their daughter connected with her environment - her vision - could be at risk as well.
Athena, Eve’s mom, thought her baby might be getting sick and took her to her pediatrician, who immediately referred Eve to an ophthalmologist. After ruling out glaucoma and other conditions, Eve was diagnosed with trigeminal and corneal anesthesia – a condition in which the nerves that provide the face and eyes with sensation for touch and pain do not function properly. Without nerves to stimulate tears or blink in response to irritation, the cornea struggles to repair itself from dryness or injury. If not managed carefully, the condition can cause corneal ulcers, scarring and blindness.
Eve also continued to struggle with eating and was delayed in her overall growth and development. Eventually, Eve’s parents discovered that their little girl has an extremely rare genetic condition called pontine tegmental cap dysplasia (PTCD), which often results in hearing loss, vision problems, cognitive issues, feeding disorders, poor muscle control and slowed language development. Experts have reported only about 40 cases of PTCD in the world.
“I couldn’t accept my baby going blind,” said Eve’s mom, Athena. “Because she is profoundly deaf, her eyes are how she experiences the world.”
Eve’s parents began managing her eye condition by giving her eye drops regularly; sometimes as often as every 30 minutes throughout the day. She also had surgeries to partially fuse her eyelids together at the edges to help keep her eyes moist. Eve also wore protective glasses and, while she was a baby, splints on her arms to prevent her from injuring her eyes by poking them accidentally. She also received treatments on several occasions to help her eyes heal from corneal ulcers.
When Eve was 4 years old, her ophthalmologist in California sent her parents an article that described a surgery called corneal neurotization. It would take a nerve out of her leg and tunnel it between her cornea and a nearby sensory nerve to create feeling and sustain Eve’s vision. That same year, the family moved to Denver to receive expert care from Emily McCourt, MD, Chief of Pediatric Ophthalmology, and The Ponzio Family Chair for Pediatric Ophthalmology, at Children’s Hospital Colorado, an expert in treating Eve’s condition with knowledge of this procedure.
Over the next several years, Dr. McCourt was determined to save Eve’s vision. The experts on Children’s Colorado’s optometry team first fitted Eve with soft contact lenses that made an immediate difference in protecting her eyes and keeping them moist. Later, one of Dr. McCourt’s colleagues, Melissa Engle, OD, pediatric optometrist, gave Eve larger, hard lenses that made her condition much easier to manage.
In 2020, when Eve was seven, Dr. McCourt trained with the doctor who created the surgery Athena had read about. Although only a handful of people in the country perform this surgery, Dr. McCourt assured Eve and Athena that this would be the best option for managing Eve’s eye condition.
“Dr. McCourt was always responsive whenever we had concerns and were dealing with eye emergencies,” says Athena. “It was wonderful to find a doctor who was truly on our team.”
In April 2021, Eve had the corneal neurotization surgery on her right eye. Although it was hard for an active ten-year-old to sit still and recover for six weeks, testing of the nerve’s sensation six months later confirmed that the surgery was a success. Eve doesn’t have full feeling in her right eye, but there is enough to protect the eye against injuries and prevent the persistent ulcers that could have caused Eve to go blind.In September 2022, Dr. McCourt’s team did the surgery on Eve’s left eye. Later testing has revealed that this surgery was successful as well.
She continues to wear glasses and hard contact lenses to protect her eyes and her reading vision is near-normal.
Due to Eve’s complex medical needs, she is supported by the Special Care Clinic at Children’s Colorado. The Special Care Clinic is where children with a variety of special healthcare needs can find a medical home, support community and care for the whole family. In Eve’s lifetime, she’s worked with almost every area of the hospital: speech, physical and occupational therapy, neurology, ear nose and throat (ENT), audiology, endocrinology, plastic surgery, ophthalmology, orthodontics, developmental pediatrics, and rehabilitative medicine. She has also undergone whole genome sequencing (WGS), so doctors can hopefully some day understand more about her condition and identify it in other kids.WGS is now available at the Precision Medicine Institute, which works with physicians like Dr. McCourt within our Center for Children’s Surgery to provide the right care at the right time.
Against long odds, curious, playful, and energetic Eve has retained her vision thanks to Dr. McCourt’s specialized expertise in her rare disease. Eve, now 12, attends the Rocky Mountain Deaf School where she plays volleyball and has access to teachers and peers who are fluent in her native language, American Sign Language.
