In chaos theory, the “butterfly effect” is the idea that small, seemingly insignificant events can set off an unpredictable chain reaction – like how a butterfly flapping its wings can cause a storm in a completely different part of the world.
When Eden Prairie’s Joanie and Dave Kraus had their daughter, Jorie, in June 2023, they never could have imagined they would be getting a butterfly effect of their own. What started as Jorie being diagnosed with an incredibly rare genetic condition has now led to a medical breakthrough from the Mayo Clinic that could transform the way genetic disorders are treated in patients around the world.
Now, Joanie and Dave Kraus want to pay it forward.
Jorie Kraus and DeSanto-Shinawi Syndrome
Jorie was conceived via in vitro fertilization (IVF), and the Krauses thought it would be smooth sailing from then on. But a routine 20-week ultrasound found that Jorie was smaller than average and identified an undefined heart issue.
The birth was not any easier. Joanie Kraus was hospitalized about three weeks before delivering Jorie and had absent blood flow and preeclampsia, a pregnancy complication characterized by high blood pressure and signs of damage to the kidneys and other organs. The situation was severe and, at 33 weeks, Joanie Kraus gave birth to Jorie by cesarean section at Mayo in Rochester, Minnesota.
After her delivery, doctors found that Jorie had multiple heart issues and other physical anomalies, but all could be surgically corrected. It was not until Jorie underwent full genome testing that doctors diagnosed her with an ultra-rare genetic disorder known as DeSanto-Shinawi Syndrome (DESSH), which, up to that point, had been identified in only a few dozen people worldwide.
“It was always like, ‘It can be fixed, it can be fixed,’ and, you know, ‘Don’t worry about this. Dave, everything’s gonna be OK.’ And then we heard (the diagnosis), and it was, ‘OK, well, I guess we’re gonna hope for the best,’” Joanie Kraus said.
DESSH is caused by genetic mutations in the WW domain-containing adapter protein with coiled-coil (WAC) gene. As a result of a deletion during pregnancy that was not inherited by either Joanie or Dave Kraus, Jorie was missing part of her chromosome 10. This caused health issues like congenital heart disease and spinal malformations, as well as other complications like low muscle tone and developmental delays.
“Individuals with the condition can have complete deletion of WAC on one copy of chromosome 10, which is what Jorie has, or they can have a change within the gene that then impacts and makes it either nonfunctional or partially functional,” said Dr. Whitney Thompson, a physician fellow at Mayo.
Jorie spent 73 days in the neonatal intensive care unit (NICU). With so little known about DESSH, the Krauses felt hopeless, but they still wanted to provide Jorie with the best possible life.
Almost a year after Jorie was born and her subsequent diagnosis, Joanie and Dave Kraus took her to a follow-up NICU appointment where, after continually getting little information about their daughter’s condition and potential next steps, they finally found a promising lead.
At the follow-up, Dr. Nevenka Radakovic asked them, “Do you know Dr. Whitney Thompson?” By pure coincidence, Jorie was Thompson’s first patient on her first day of her neonatology fellowship. It felt like destiny.
BabyFORce and Mayo Clinic’s breakthrough
After the Krauses reconnected with Thompson, they learned about Baby Functional Omics Resource (BabyFORce), a collaboration between her and Laura Lambert, a biomedical scientist and assistant professor at Mayo.
BabyFORce is a program that uses artificial intelligence (AI) to identify individualized treatments for patients with genetic disorders in the NICU. Thompson said she and Lambert met in April 2024 and began developing BabyFORce before it picked up steam in the following months. The program became official about a year ago.
“We’re getting more and more rare and ultra-rare genetic diagnoses than ever,” Thompson said. “We’ve gotten really good at making the diagnosis, but our treatments are lagging far behind. So that’s really what we sought out to solve is a way that we can go from a molecular diagnosis on rapid genome sequencing to a treatment.”
BabyFORce works by having doctors take a small skin biopsy and grow the patient’s cells in a lab. Then, they use AI to identify different drugs already approved by the U.S. Food and Drug Administration (FDA) and test them on the lab-grown skin cells, according to Lambert.
Through BabyFORce, Thompson and Lambert found a few options that could help upregulate Jorie’s other chromosomes to compensate for the missing one. After the Krauses went through numerous ethics and legal departments, Jorie began taking one of the drugs BabyFORce identified.
In just a few days, Jorie’s muscle tone improved. She began walking with a walker, can go up and down stairs and is able to say words. Jorie’s WAC gene has also been restored to wild-type, or normal, levels.
“It’s just wonderful to kind of see, but we still have, like Dave said, we still have a long way to go. She’s still in a lot of therapy, but we’re extremely, extremely hopeful,” Joanie Kraus said.
Jorie was only the second patient Thompson and Lambert examined to see if she would be a good candidate for BabyFORce. With promising results so far in Jorie’s treatment, Lambert said they hope to expand the program in the coming months after publishing their research data.
“Our hope is to scale, so we want to help more patients,” Lambert said. “We want to be able to do this more rapidly for more populations.”
BabyFORce has already started expanding into pediatric precision medicine, and Lambert said they are looking to invest in robotics to automate some of the parts of the program that are more manual labor intensive.
Specifically for people with DESSH, Dr. Thompson added they are working closely with the DESSH Foundation, an organization that raises awareness and advances research for the condition, to develop a clinical trial to help as many patients as possible.
The creation of The Jorie Effect
This kind of experimental medicine was not covered by insurance but was funded through donations and Mayo support. The Krauses recognize that this medical breakthrough has given Jorie a second chance at life, and they want to pay it forward.
To do this, the Krauses created The Jorie Effect, inspired by the “butterfly effect,” which Joanie Kraus said is a perfect representation of Jorie’s medical journey and how her diagnosis and BabyFORce could have the potential to create ripples across the globe.
“I said, ‘Let’s create the nonprofit so we have a direct channel to give more people second chances,’” Joanie Kraus said.
The Jorie Effect launched a few months ago, and its 501(c)(3) nonprofit status is still pending. Its main goals are to support the clinical trial for DeSanto-Shinawi Syndrome, advance other personalized genetic treatments and raise awareness of treatments for rare diseases.
Joanie Kraus said she can already see the impact around the world, having received messages from rare-disease families in countries including Russia, Ireland, Mexico and Spain about their own experiences. She said her family was given the gift of another chance for Jorie, and she wants to continue growing The Jorie Effect to potentially give other people that gift as well.
“This is the biggest gift anybody can give,” Joanie Kraus said. “This is beyond a lotto ticket, and it’s a gift that should be shared with others.”
Learn more about The Jorie Effect by visiting its website. To support the organization and BabyFORce, visit The Jorie Effect’s fundraising page.
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