Beating the odds

When Carin Sutton welcomed her third child, Quinn, in 2014, she could tell almost immediately that her brand-new baby boy was dealing with some serious challenges. His muscle tone was low and he struggled with atypical rapid eye movement.

Sutton’s pediatrician referred Quinn to Stanford’s Lucile Packard Children’s Hospital, which would be the start of many visits with many specialists. Quinn saw a urologist, an ophthalmologist, an endocrinologist, and a neurologist before he was diagnosed with Joubert syndrome at nine months old.

“We were very surprised,” Carin Sutton said. ”It was out of left field to get this diagnosis.”

Indeed, Joubert syndrome is an extremely rare genetic disorder affecting around one in 100,000 babies worldwide every year. It is caused by a gene mutation that hinders development of the cerebellar vermis, the part of the brain that controls things like posture, muscles, and head and eye movement. People with Joubert syndrome can have a wide range of conditions, including severe sleep apnea that can lead to premature death.

The Suttons sought every bit of information and all of the resources they could find on Joubert syndrome, and kept bringing Quinn to specialists. Today, against the odds, 10-year-old Quinn is showing some health improvements after a research breakthrough by Byers Eye Institute doctors led to a new course of individualized treatment. 
 

Seeing an opportunity

Quinn’s breakthrough started in 2022, when his primary pediatric ophthalmologist, Euna Koo, MD, clinical associate professor at the Byers Eye Institute, noticed a thin spot on his cornea during a routine exam.

Koo referred Quinn to her Byers Eye Institute colleague, Charles Yu, MD, assistant professor of ophthalmology and cornea specialist, who recommended a corneal transplant and partial eyelid closure to help maintain Quinn’s vision. But Yu also saw an opportunity to help Quinn — and others struggling with Joubert syndrome — on a larger scale.

He brought in Yang Sun, MD, PhD, professor of ophthalmology, who suggested keeping Quinn’s damaged corneal tissue after the surgery. If the Suttons approved, Sun would take the sample to his lab to pinpoint the cause of Quinn’s condition and learn more about Joubert syndrome generally.

The Suttons were all in. The family has long been vocal in its mission to help inspire new treatments for children with Joubert syndrome. After Quinn's diagnosis, they went to the Joubert Syndrome and Related Disorders Foundation for support and resources, but before long, they were attending medical conferences and sharing Quinn’s story with medical experts alongside the foundation. This research was an extension of their years-long efforts to help children and families like theirs.

Quinn was Yu’s first patient with Joubert syndrome. He often sees special cases for pediatric patients, so he knew how infrequently opportunities like this arose.

“There’s an enormous need for pediatric ophthalmology providers, so I’ve been passionate about being available to young patients who need a cornea specialist at Stanford,” Yu said. “I’m grateful I got to meet and treat Quinn and his family and that we could help them find more answers.”

Research to recovery

Back in the lab, Sun and his team of postdoctoral fellows and scientists modeled the disease in zebrafish and human cells. Between the summer of 2022 and the spring of 2023, they discovered missing mitochondrial proteins in Quinn’s cells, which set the team on a mission to restore those proteins. The solution was deceptively simple.

“We were able to provide an off-the-shelf vitamin to them,” Sun said. “It helped Quinn to have some visible improvement, and his parents have also said his fine motor control, mobility, and visually guided movements have improved.”

Quinn recently turned 10 years old, a milestone that many children with Joubert syndrome don’t see. Quinn’s communication accuracy has jumped, and his sleep apnea has improved — a huge relief to his family and doctors.

“Making the proper referrals and being aware is just so incredibly important,” Yu said. “His eye is doing really well and it has been very impressive to see the level of excellent care that the family provides for Quinn.”

Carin Sutton credits experts like Yu and Sun for their diligent work in easing her son’s disease.

“It’s just kind of a wild ride — but he seems to grow and mature, and things get easier,” she said. “It’s definitely nice to have such a wonderful team that is just there for you — they have all been amazing.”