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Baby Oliver Leaves Legacy of Genomic Advances at Mayo Clinic
"Oliver's life was a brief gift, but he left a mark deeper than his time with us."
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To Jorie, From Oliver
The tragic loss of Oliver, a baby with an ultrarare disease, sparked a medical innovation that would give Jorie a second chance at life.
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Every August 31, Whitney Thompson, M.D., M.Phil., travels to Chatfield, Minnesota, to release purple balloons.
On that day, Dr. Thompson is among the family and friends who come to Mill Creek Park to join Casey and Justine Bates — the parents commemorating the 18-month life of their late son, Oliver, who was diagnosed with WOREE syndrome, an ultrarare and incurable form of epilepsy that claimed his life in March 2022.
“I had the privilege of being with Oliver’s family at his diagnosis, and I was there when he took his last breath,” says Dr. Thompson, a dual fellow in neonatal medicine and clinical genomics at Mayo Clinic. “The bond we formed is hard to put into words. Being there is my way of continuing to care for his family and honor his life.”
WOREE syndrome (WWOX-related epileptic encephalopathy) is caused by a lack of an essential protein for brain development and function called WWOX. This is a result of mutations in the WWOX gene, which is located on the 16th chromosome.
“There’s still not a lot of information about it,” Justine says. “We were told to not expect him to live past 4, but he made it to his first birthday, which was very important to us.”
While Oliver’s life was brief, his legacy lives on at Mayo Clinic. Three years after he died, the life of Jorie Kraus, another child born with an ultrarare disease, would be transformed because of BabyFORce, the research and treatment procedures that began with Oliver.
There for the Whole Journey
Nothing seemed especially distinctive about Oliver when he was born on Aug. 31, 2020, a day after his due date. Justine’s pregnancy had been uneventful.
But then at 5 ½ weeks old, Oliver had his first seizure. His parents rushed him to a nearby emergency room.
The hospital ran tests but was at a loss to explain the cause of that initial seizure and those that followed. Casey and Justine brought Oliver to Mayo Clinic in Rochester, and he underwent a series of tests, including exome sequencing, which examined roughly 20,000 protein-coding genes, where many diseases originate.
For five agonizing weeks, Casey and Justine waited for the results.
“When you’re sitting and waiting, even for 24 hours, that can feel like a lifetime,” Casey says. “We felt hopeless.”
Finally, Casey and Justine received an answer: WOREE syndrome. It’s a recessive genetic condition that at the time had been diagnosed in fewer than 100 children.
Beyond symptom management, there were no treatments for WOREE syndrome, which carries an average life expectancy of just four years. But there was a new Mayo Clinic pediatrics resident who became very interested in Oliver’s case: Dr. Thompson.
“Dr. Thompson was the first one to really say, ‘I’ll take him,’” Justine recalls. “There were so many unknowns, but she said, ‘Whatever comes ahead, I’m there.’”
Though he was hospitalized multiple times, Oliver was able to spend much of his life at home before passing away on March 10, 2022.
That August 31, on what would have been Oliver’s second birthday, friends and family joined Casey and Justine to release purple balloons. Dr. Thompson was there, and she has returned for the balloon release every year since.
In 2024, the Bates family welcomed a new member: Whitney Bates, named in honor of the physician who had profoundly impacted their lives.
“Dr. Thompson was the person we could always turn to during the hardest time of our lives,” Justine says. “She always made sure that Oliver’s care and comfort were her priority.”
The Search for Faster Answers
The WOREE syndrome diagnosis, while painful to hear, had provided Casey and Justine with a measure of relief.
"Not knowing was so hard,” Casey says. “We feared the worst, and unfortunately we got the worst, but at least we knew why he was so sick.”
Seeing the Bates family endure the five-week wait for answers stuck with Dr. Thompson. She knew that Mayo Clinic could better meet the needs of seriously ill pediatric patients and their families.
The bond we formed is hard to put into words. Being there is my way of continuing to care for his family and honor his life.
— WHITNEY THOMPSON, M.D., M.PHIL.
Benefactor support and a collaboration with Rady Children’s Institute for Genomic Medicine enabled Mayo Clinic to pilot rapid whole-genome sequencing (rWGS) in the Neonatal Intensive Care Unit (NICU). rWGS analyzes a person’s genome — their entire genetic code — in a significantly shorter time frame than traditional WGS, which can take upward of 2–3 months to deliver complete results. rWGS allows clinicians to quickly identify genetic conditions to diagnose — an advantage that can be particularly valuable in critical situations.
During the pilot, which tested 10 babies, Dr. Thompson recalls organizing samples and obtaining consent from families in between her residency work shifts.
"After those 10 cases showed success, Mayo Clinic embraced rapid genome sequencing, and now it’s the standard of care in our NICU,” Dr. Thompson says. “It’s a good example of Mayo’s primary value of ‘the needs of the patient come first.’” In Mayo Clinic’s rWGS program, clinicians use advanced technology and artificial intelligence (AI) to sequence a patient’s 3 billion DNA base pairs. This comprehensive analysis can identify even the most subtle genetic variants. Though it may not always lead to a diagnosis, it can provide some insights into a patient’s health challenges.
"It’s really humbling to think that because of our son, parents don’t have to wait five weeks for the results, because that was the hardest,” Casey says. “Plus so many things are much more treatable if they can be detected early enough.”
The rWGS program, launched at Mayo Clinic in June 2022, has since been expanded to some adults who exhibit symptoms that suggest genetic disease, enabling them to receive the same rapid, comprehensive DNA analysis. To date, more than 300 infants, children and adults have been offered rapid whole-genome sequencing.
"When you are dealing with an ultrarare disease, it’s surprising how much good you can do with just a diagnosis,” says Laura Lambert, Ph.D., the director of Mayo Clinic’s Functional Omics Resource (FORce). “To tell a family that maybe you could help — or just that you’re willing to try — is life-changing for them. But you can’t try to fix the problem unless you know what the problem is.”
A Powerful Connection
In December 2022, the same year that the rWGS program began in full, Dr. Lambert arrived at Mayo Clinic.
While completing her postdoctoral fellowship at University of Alabama at Birmingham, Dr. Lambert began using an AI tool known as a reasoning agent, which can process information, make decisions and perform tasks based on logical inference. For people with ultrarare diseases, specific reasoning agents can identify treatment options, enabling precision medicine. Mayo Clinic provided Dr. Lambert access to state-of-the-art reasoning agents that could accelerate research.
"We’ve been heavily supported by the institution, not just financially but also through mentorship and the ability to make connections,” Dr. Lambert says. “At Mayo if you say to leadership, ‘I’m going to meet with this big company, can you come with me?’ they’ll say, ‘Of course.’
"And then there’s the way people react when they hear you’re from Mayo Clinic. They’re so excited to meet with us because they really feel hope that we’ll be able to do something.”
Dr. Thompson began her four-year dual fellowship in 2023. Not long after, she was in a meeting to discuss a NICU patient and met Dr. Lambert.
The two immediately connected as both friends and colleagues.
"Our professional expertise is so complementary — we’re like puzzle pieces that fit together,” Dr. Lambert says. “We both have our specific areas of expertise and areas where we overlap, but we also really see eye to eye on a lot of things.”
In April 2024, Drs. Lambert and Thompson launched BabyFORce. BabyFORce takes the next step after rWGS, using an advanced understanding of functional omics and AI technology to bridge the gap between diagnosis and treatment for babies with rare genetic diseases.
BabyFORce’s second patient was a girl with an ultrarare disease, whom Dr. Thompson had met a year before: Jorie Kraus.
An Unfixable Condition
Dave and Joanie Kraus had little time with their newborn daughter following her birth.
Jorie’s arrival on June 8, 2023, had come via a planned Cesarean delivery at 33 weeks of pregnancy, three weeks after Joanie had been admitted to Mayo Clinic Hospital – Rochester, Methodist Campus due to preeclampsia, a serious pregnancy complication characterized by high blood pressure and signs of organ damage.
Jorie, who weighed just 3 pounds, 5 ounces, was quickly moved to the Rochester Level IV NICU, reserved for the most critically ill newborns and preemies.
"The pregnancy was really rough, but we thought, ‘It’ll be OK once she’s born,’” Joanie says. “But when she was born, the doctors immediately knew something wasn’t right.”
To tell a family that maybe you could help — or just that you’re willing to try — is life-changing for them. But you can’t try to fix the problem unless you know what the problem is.
— LAURA LAMBERT, PH.D.
Like all parents whose babies are in the Level IV NICU and are suspected of genetic diseases, Dave and Joanie were offered the opportunity to meet with a genetic counselor and learn about rWGS. They decided to proceed with the testing.
The rWGS identified a 27-gene deletion on Jorie’s 10th chromosome, resulting in a shortage of a critical protein from her WAC gene. There was only one possible diagnosis: DeSanto-Shinawi syndrome, a condition that had been diagnosed in fewer than 30 cases worldwide.
Dave and Joanie were told DeSanto-Shinawi syndrome would result in low muscle tone and developmental delays.
"When they told us Jorie had DeSanto-Shinawi syndrome, I remember Joanie said, ‘What does this mean?’ And I said, ‘Well, everything else was fixable. This one isn’t,’” Dave recalls. “I couldn’t have been more wrong.”
Searching for Hope
During Jorie’s 73-day stay in the NICU, the Krauses met Dr. Thompson.
Jorie’s first weeks were frightening as she battled the effects of a condition for which there were no known treatments. Multiple times her vital signs suddenly dipped as her eyes dilated and she stopped breathing.
"The first time it happened, I was holding her, and she went lifeless,” Dave says. “I thought she had died in my arms.”
An otolaryngologist discovered Jorie had a tiny airway that was being further constricted by the low muscle tone caused by DeSanto-Shinawi syndrome. Surgeons fixed the breathing issue by inserting a feeding tube that bypassed her pharynx.
Eventually Jorie was stable enough to live at home, but her parents needed to drive 90 minutes to Mayo Clinic multiple times each week for her care. At a year old she was behind in every development measure: cognitive, receptive language, expressive language, fine motor skills and gross motor skills.
Throughout Jorie’s first year, the Krauses stayed in regular contact with Mayo Clinic and Dr. Thompson. When she and Dr. Lambert founded BabyFORce, they asked Jorie’s parents to consider enrolling their daughter.
Through BabyFORce, Mayo Clinic clinicians can move from diagnosis to personalized treatment and potentially uncover therapeutic options where none previously existed.
Drs. Lambert and Thompson used a reasoning agent to search for Food and Drug Administration (FDA)-approved drugs that might possess additional, unrecognized uses.
"Drug repurposing is the quickest way to help these patients, because it takes years to develop a new drug,” Dr. Lambert says. “Reasoning agents make it possible to match genetic information with existing drugs that we know are safe.”
Jorie’s doctors were looking for a drug that might boost expression of the WAC gene, which provides instructions for making a protein involved in several important cellular processes. Clonazepam, a readily available seizure medication that was first approved by the FDA in 1975, emerged as a promising candidate.
Drs. Thompson and Lambert reviewed the research and decided to test clonazepam on Jorie’s skin cells, where the WAC gene is typically highly expressed. The drug triggered a surge of the critical protein in Jorie’s cells. Multiple tests confirmed the results.
"When the doctors gave us the news, I think they may have been as excited as we were,” Dave recalls. “I don’t know if I’ve ever seen researchers that giddy.”
Because clonazepam was already FDA-approved, the Krauses didn’t have to wait for clinical trials. Jorie was given her first dose of clonazepam on April 1, 2025.
As promising as the labs had been, no one was expecting Jorie’s response.
A Startling Transformation
Development milestones that Jorie had missed — that seemed like they might never occur — arrived in waves.
On April 2, a day after the first dose of clonazepam, 22-month-old Jorie began side-traveling. After three days, she was toddling behind a walker, stable and confident. Within a week, Jorie had mastered going up and down stairs.
It wasn’t just Jorie’s mobility that roared to life. She began speaking — not babbling, but saying clear, distinct words — and she was scribbling with crayons at a level that was developmentally age-appropriate.
"We were so excited with the labs but also nervous,” Dr. Lambert says. “There’s always the chance that it could have been a false-positive, or maybe what worked in cell cultures wouldn’t work in vivo.
“It’s hard to describe how amazing it was to see how well — and immediately — clonazepam worked.”
Jorie has continued to narrow the gap between her development and the typical one of her peers. She loves music, puzzles, fine motor toys, Poke-A-Dot books and memory games.
Dave and Joanie have started The Jorie Effect, a foundation to support BabyFORce. The Krauses want to make it possible for more families to experience what they did: a second chance at a life that once seemed to be slipping out of reach.
“Jorie’s syndrome is like one big processing disorder,” Joanie explains. “It’s really hard for her to tell her feet to move, and she has structural anomalies like low muscle tone that make balance and coordination harder.
"With clonazepam, it was as though the lights came on all of a sudden. Jorie still has a long journey ahead, but it’s like the syndrome is reversing itself, which is just incredible.”
While The Jorie Effect supports BabyFORce, it exists because of baby Oliver, whose case drove Dr. Thompson to champion rapid whole-genome sequencing. Oliver’s legacy lives in every family who receives answers in days rather than weeks at Mayo Clinic.
Now each August, when purple balloons drift over the summer sky in Southeast Minnesota, they mark not an ending but a beginning. It’s the foundation upon which second chances like Jorie’s are built, and the promise that conditions once deemed unfixable might yield something different: hope.
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