Solving an early mystery

When the diagnosis arrived late in 2018, Brooke Sanders was relieved. Korrie, her 3-year-old daughter, the girl with the silly smile glued to her face and hands that wouldn’t stay out of her blonde hair, had Rett Syndrome.

"The disorder isn’t life-threatening, and it’s not degenerative," says Brooke. "Her brain is fine."

Brooke and her husband, Eric, began to worry about their daughter shortly after Korrie turned one. By all measures, their child seemed happy and healthy. But it was clear that she wasn’t developing as quickly as she should. For starters, Korrie still wasn’t crawling. And she seemed to have stopped growing at 15 pounds.

After a battery of tests—chromosomal microarray, brain exams, MRI, and blood work—the doctors claimed they hadn’t found anything abnormal. "That was nice," says Brooke. "But at the same time, we wanted to know what was going on."

Korrie’s disorder, whatever it was, remained a mystery. Rett can affect a child’s ability to speak, walk, eat, and even breathe easily. So while her parents could see the symptoms, they still didn’t know the cause. Korrie enrolled in a special-needs preschool, but for months, the family felt stalled in their efforts to figure out why she wasn’t growing. Acid reflux seemed to play some role—Korrie was burping and spitting up after meals. So Brooke took her off dairy and gluten. Her digestion improved, but her weight stayed low.

Brooke places a big bet—and wins

One day in 2017, Brooke heard about researchers who were mapping the full genomes of people with undiagnosed genetic diseases. Brooke figured the odds of essentially winning a free DNA scan—which goes far deeper than a consumer genetic report—were slim. But she applied anyway, and Korrie was accepted.

"It was a real blessing to get into that research study," says Brooke. "Korrie was one of the first kids to get in."

It took 10 months to see the results, and when they came in, the Sanders felt like a burden had been lifted. "We had that relief," says Brooke. "We were like, okay, we know what we’re working with now. We can carry on with everyday life."

Rett Syndrome is a rare disorder that’s often a challenge to manage. "It’s not an input issue; it’s an output issue," says Brooke. "She thinks very much like a typical 3-year-old. She’s just not able to make her body do the things that a typical 3-year-old does." Understanding Korrie’s situation proved immediately useful. Brooke used a Facebook group to track down Dr. Mary Jones, a leading Rett specialist at the Benioff Children’s Hospital in Oakland.

"She was incredibly supportive," says Brooke. Dr. Jones suggested that Korrie visit the San Francisco branch of the children's hospital, and doctors began testing various medications in different doses. They also suggested a nasogastric (NG) feeding tube, so Korrie could start gaining weight. When the hospital’s dietitian asked Brooke if she had ideas about what Korrie should take through the tube—especially given Korrie’s aversions to dairy and gluten—Brooke replied, "I’d like to try Kate Farms."

"That’s exactly what I was thinking," replied the dietitian.

"It was kind of a perfect chain of events," says Brooke. "Everything went completely terrible, but in the end it all worked out."

Hope for Korrie’s future

Korrie began putting on weight almost immediately, and as her spasms subsided, the hospital staff replaced the NG tube for a more permanent gastrostomy tube, or G-tube, which plugged directly into Korrie’s belly.

"Everybody who gets the G-tube says the same thing: 'We wish we would have done it sooner,'" says Brooke. "'It’s amazing, it’s not scary'—all those things. And that really is so true." Dr. Jones released her from the hospital, and two months later, Korrie had gained 6.5 pounds. "Everybody who saw her was like, 'Oh my gosh! She has chub on her cheeks!'" says Brooke. "'She looks so much healthier!'"

Learning about Rett has not only helped the Sanders keep Korrie healthy; it’s helped them communicate better, too. "Before, we weren’t sure of how much she understood of what was going on around her," says Brooke. "But after we got the diagnosis, we learned to really talk to her, and to not treat her like she’s not there. Because she is, and she understands what we’re saying."

As it turns out, the Rett community that Brooke discovered online is fed by an artery of optimism. "There are a lot of foundations doing research and trying to help these kids," she says. "So there’s a lot of hope as far as potential cures."

Korrie is still small—at three years old, she weighs just 23.5 pounds—and she’ll likely continue to develop slowly. But by all measures, she’s a wildly happy child, with eyes that seem to smile and an ability to suck people into her cheerful orbit.

"She has such an engaging personality," says Brooke. "She loves being outside and going on the swings. She loves bath time. She loves to play singing games, patty cake, tickling—all that kind of stuff. She’s a happy girl." To keep her mind and body ready for the day that a cure comes, Korrie is in occupational, physical, and speech therapies, where she builds skills that she’ll hopefully be able to use freely one day.

"The biggest thing I learned was the importance of therapy to keep her brain working," says Brooke. "So when the potential cure comes, she’s ready. We have a lot of hope for the future."