When Hannah Detlefsen was born in 2017, her parents celebrated a healthy 8-pound baby. But in the ensuing months, they began to grapple with a very different truth.

Hannah’s father, Jeffrey Detlefsen, saw something unusual while cradling his newborn. “It was just a few days before her two-month checkup, and I noticed there was no pupil in her right eye,” he said. “It was just this blue, cloudy iris.”

That was the beginning of the family’s medical odyssey. First, an eye specialist suggested Hannah had retinoblastoma, a rare type of eye cancer that can be life-threatening.

“It was pretty traumatic,” Detlefsen said. It was the first time he and his wife had to bring a child to an emergency room. “We left that night thinking she had cancer of the eye.”

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But three weeks later, a different specialist offered a potentially worse prognosis: Gould syndrome, a rare genetic disease that causes brain abnormalities and affects other organs, including the eyes, the brain and the kidneys.

“It took two-and-a-half to three weeks to get in for an MRI — the longest two weeks of our lives,” Detlefsen said. The MRI showed that Hannah missed a big portion of her brain matter important for mental function. They also suspected that Hannah had had a stroke in utero that left lasting brain damage.

Desperate for answers, Detlefsen frantically searched the internet. He found a mother in South Africa whose son had a similar condition to Hannah. Through their back-and-forth exchanges, Detlefsen learned about Gould syndrome.

A smiling woman and man lean over a broadly smiling child who lays in a hospital bed — Mary and Jeff Detlefsen pose for a photo with their daughter Hannah on May 22, 2024, during a visit to UCSF Benioff Children’s Hospital in San Francisco. (Beth LaBerge/KQED)

Hannah was 6 months old when she was finally diagnosed by Douglas Gould, a UCSF geneticist who discovered the disease 20 years ago.

“One of the reasons why this syndrome hadn’t been identified earlier is because it’s highly variable,” Gould said in an interview with KQED. The disease presentation includes seizures, cataracts, and kidney issues. Today, Gould estimates approximately 500 Americans suffer from the disease.

He especially feels for young parents who had to figure out the disease on their own. “Usually, they are just starting to grow their families,” he said. “And in addition to having these new challenges, they’re going to the literature to learn about the disease and educating their doctors — who may or may not be that receptive to learning.”

Earlier this year, Gould and other experts at UCSF created the first center in the world focused on studying and treating patients with Gould syndrome.

“Now you’ve got teams of doctors who see 100 patients instead of just one, and they become experts,” Gould said. “It improves patient care and helps us on the research side to better understand the disease.”

Having a center like this will also raise public awareness of the disease, said Scott Earley, the director of the Center for Molecular and Cellular Signaling in the Cardiovascular System at the University of Nevada, Reno, who studies Gould syndrome. “It may turn out that there are many more people affected by this disease than we currently know,” he said.

A standing woman smiles down at a smiling child who sits in what appears to be a stroller outdoors in a park — Mary Detlefsen spends time with her daughter Hannah, 7, at Magical Bridge Playground, an accessible playground, in Redwood City on May 21, 2024, during a Bay Area visit to care providers for Hannah at Stanford and UCSF hospitals. (Beth LaBerge/KQED)

As a pediatric neurologist at UCSF, Rachel Vassar, who co-founded the new center, has treated 10 patients with the rare disease.

“One of the many questions that parents always ask me is ‘What will the future look like?’ and we can’t yet say with certainty,” she said.

By having a centralized facility, experts can now work together to collect and pool clinical data, Vassar said. “That’s really the only way that we can move the field forward.”

Today, genetic sequencing can help doctors confirm a diagnosis when they suspect Gould syndrome. But there is still no cure.

“With all rare diseases, we don’t have a large randomized control trial to tell us exactly which medications will help them get better,” Vassar said. For now, doctors rely on patient feedback. But Vassar is hopeful that future gene therapies developed by scientists at the new center may allow physicians to treat the condition even as early as gestation.[aside label='Related Articles' tag='health']Hannah is now seven years old. She cannot talk or walk. Every day, she takes more than 30 medications on top of her routine therapies, such as breathing and stretching exercises. She wakes every two hours at night and is at risk for strokes at all times.

“There’s not a thing in her life that’s not affected by this syndrome. It affects every part and every minute of every day of her life and our life, and there’s really no getting around it,” Detlefsen said.

Because of her condition, Hannah needs care around the clock. Her mother has given up a full-time job to look after her.

“I would be lying to say that it gets easier,” Detlefsen said. “As a parent, to know you’re probably going to outlive your child is not something that you ever want to even come to terms with. And I realize how precious our time is with her.”

Detlefsen is excited about what the center can do for future kids and for Hannah.

“She’s not going to magically heal, and I’m realistic about that. But the hope is that we can find ways to keep her more comfortable and to enjoy her life as best as she can, given the struggles,” he said.

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New UCSF Center Offers Hope for Children With Rare Genetic Disease