Jorie Kraus, who was born with a rare genetic disorder, had a bleak outlook for her future until doctors at Mayo Clinic discovered a way to essentially reverse her condition.
ROCHESTER, Minn. — Artificial intelligence often gets a bad rap for negatively impacting jobs and industries. Yet, there’s a remarkable story showing how AI is reshaping healthcare in unexpected ways. It’s transforming lives—just ask Joanie and Dave Kraus.
“Anything is possible, and she’s definitely got a second chance at life,” Dave says, referring to their daughter Jorie. After a long journey to pregnancy, the couple finally conceived Jorie through IVF. They thought they had overcome the biggest hurdle, believing health complications were behind them since genetic testing was done during the process.
However, at the 20-week scan, they discovered that Jorie was smaller than expected and had some sort of heart issue. They couldn’t understand the specifics, so they prayed for guidance and sought a second opinion at Mayo.
It’s worth mentioning that Joanie previously worked at KARE 11, where she managed the sales department until quite recently.
When Jorie reached 33 weeks, Mayo’s doctors opted for a C-section, welcoming Jorie into the world. “They quickly placed her into an incubator and transferred her to St. Mary’s campus. I went to join her there while Joanie stayed at Mayo,” Dave recalls, juggling time between both locations.
Jorie spent 73 days in the NICU, where doctors discovered she had not one but five heart problems along with other physical anomalies—which were, thankfully, treatable.
“How are we going to fix this? And this amazing surgeon reassured us, saying, ‘Don’t worry about it. You just need to think about who she’ll be taking to prom,’” Joanie reflects.
Relieved, they thought the worst was over, but their daughter’s story didn’t stop there.
Genetic testing detected an issue: Jorie was missing a part of her chromosome 10 due to a spontaneous deletion during pregnancy. This wasn’t inherited from either parent, which is why it had flown under the radar during IVF. The diagnosis was DeSanto-Shinawi Syndrome, a rare genetic disorder responsible for Jorie’s physical challenges, low muscle tone, and developmental delays. At that time, only a handful of people globally shared the same diagnosis.
“Joanie wondered what that meant, and I had to say, ‘It’s permanent. There’s no fix. There’s no surgery for this one,’ which was tough,” Dave explained.
With no cure in sight, they focused on early interventions like physical and speech therapies. A year passed, and although Jorie was lagging with milestones like crawling and talking, her parents kept pushing for answers.
“We’re at the best hospital in the world. Where’s the cutting-edge genetic research?” Joanie recalled asking. That’s when Dr. Whitney Thompson chimes in, “Have you met Dr. Thompson?”
As luck would have it, they had met her while in the NICU when genetic testing—specifically rapid genome sequencing—was conducted right after Jorie’s birth. Since then, Dr. Thompson had partnered with Dr. Laura Lambert on a project called BabyForce.
“We can send this comprehensive genetic test on Day One in the NICU and have a diagnosis within that first week, which can significantly impact patient care. But often we have the diagnosis without a treatment—this is where BabyForce comes in,” Thompson explains.
The doctors take the patient’s skin cells and grow them in a lab. With the help of artificial intelligence, they look for existing FDA-approved drugs that might help. They test these medications on the lab-grown cells to see if they work.
“Using a drug that’s already approved and known to be safe for children bypasses many hurdles typically faced in rare disease treatment, which is really beneficial,” Lambert adds.
For Jorie, AI identified an inexpensive medication typically used for treating seizures in children. In lab tests, it showed remarkable results, increasing the functioning levels of her working chromosome to offset the deleted one. Following ethics and legal vetting, Jorie started this treatment a few months back. It turned out to be effective in real life as well. Just days later, she was walking with a walker, navigating stairs, and even beginning to talk.
“It’s like she was absorbing information, figuring it out, but couldn’t process it until now,” Joanie shares.
Normally, developing a treatment for such a rare disorder can take years—if it ever happens at all. Jorie’s success could mean hope for others in the future.
“We’re concentrating on the NICU because earlier intervention could lead to greater impacts. The goal is to treat even before symptoms appear,” Thompson notes.
“We understand this could benefit genetic patients, but it also holds potential for cancer treatment, where we could analyze a tumor’s genetics and use AI to find possible drugs,” Lambert adds.
The possibilities are endless. This is what these doctors have created for Jorie.
“She’s going to be the best version of herself. Many barriers have been lifted,” says Dave. “She brings so much joy, and we hope that despite all our hardships, her story can inspire others.”
In fact, sharing their story aims to help others. Jorie’s medical journey was not covered by insurance, relying only on funding from Mayo and private donations. The Krauses have set up a GoFundme and created a charity called The Jorie Effect to aid other children with rare diseases in accessing similar medical care.
Thompson and Lambert have presented their findings at various medical conferences and plan to publish their work at the end of July.
