‘Seeing the world for the first time’

Rare brain syndrome diagnosis provides clue to helping 20-month-old Connor Houghton’s vision.

Connor Houghton’s eyes opened wide as he looked around the room.

A bright smile filled the then 6-month-old’s tiny face when his eyes landed on his parents, Ashley Snider and James Houghton.

This was the moment Connor first tried on his glasses, specially made and fitted with the help of the pediatric ophthalmology team at Spectrum Health Helen DeVos Children’s Hospital.

Snider said it was “so cool” to watch her son’s face light up when he saw them and his older sister, Alayna Houghton.

“It’s like he’s seeing the world for the first time,” Snider said of her now 20-month-old son.

The diagnosis

Connor’s eyes were among the first indicators his life’s journey would differ from that of other children.

In infancy, his eyes constantly moved from side to side, and he couldn’t focus on one particular thing.

The Cadillac, Michigan, family took their son to Brooke Geddie, DO, section chief for Pediatric Ophthalmology, at Helen DeVos Children’s Hospital at the recommendations of friends.

When Dr. Geddie saw Connor’s rapid involuntary eye movement and visual delays, she ordered a MRI to rule out the possibility of a neurological problem.

MRI results determined that Connor has Joubert syndrome, a rare brain malformation characterized by the absence or underdevelopment of an area of the brain that controls balance and coordination. People with the syndrome experience abnormal eye movements, rapid breathing, low muscle tone and impaired development.

Snider’s heart sank when they learned the diagnosis.

“It was really scary,” she said. “We had no idea what to expect.”

Following the diagnosis, received the same day as his MRI, Connor was admitted to the hospital for further evaluation and monitoring for low oxygen levels. Doctors also ran tests on his liver and kidneys, and he met with a neurologist.

Dr. Geddie said that Connor’s eyes were the key to discovering what he was experiencing.

“From there, you take it day by day,” Snider said of the next steps of their journey.

Living with Joubert syndrome

In the beginning, each month involved the family traveling more than three hours from their home in Cadillac to visit Helen DeVos Children’s Hospital to ensure Connor’s internal organs functioned correctly.

Dr. Geddie performed a retinoscopy, a technique used to determine the strength of a person’s eye, enabling prescription of glasses in young children. This revealed Connor had high hyperopia measuring +7.25, double the average strength for his age.

Connor now wears his glasses every day, received from the Pediatric & Family Optical Shop, a part of the pediatric ophthalmology section at Helen DeVos Children’s Hospital. The glasses have greatly improved Connor’s sight and visual development. The treatment has also corrected Connor’s misaligned eyes. In addition, his rapid eye movement has nearly resolved.

Once Connor had his first pair of glasses, he “really started to excel,” Dr. Geddie said.

She said that vision is an important part of neurological development and it helps lead to achievement of milestones. Seeing Connor excel developmentally is incredibly rewarding.

“He touched my heart,” Dr. Geddie said.

Looking toward the future

These days, Connor’s visits to his doctors are more spread out and occur every few months.

As Connor grows, his eyes will continue to be monitored and the prescription for his glasses will change according to his needs.

The family takes life “one day at a time,” Snider said.

The diagnosis has changed their lives—doctor appointments, considering if there’s seating to accommodate Connor, who can’t support his own weight, and taking Connor’s sensory challenges into account.

Connor attends physical therapy three days a week. He’s currently working on learning how to sit up on his own, clap, give people high fives, shake hands, wave, feed himself and say, “Hi.”

As Snider looks forward, she said they don’t know what to expect for Connor’s future. He might walk or never walk; he might never talk; and he will likely live with his parents his entire life.

She said the glasses turned out to be a turning point.

“It’s really neat to see how they help him,” she said.

Connor’s parents captured on video the first time he tried on his glasses:

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