Courtesy of a colleague
“Anything is possible, and she’s definitely got a second chance at life,” says Dave.
Dave is talking about their daughter Jorie. The Krauses spent a long time trying to get pregnant and ultimately were able to conceive Jorie through IVF. They thought they had cleared the hurdle. Getting pregnant was the hard part, right? The couple thought health issues were in the clear as genetic testing was done as part of the process.
“At our 20-week scan, they found out that she was a little bit small and they found an undefined heart issue. They didn't quite know what it was, and so we prayed for wisdom, and we went to Mayo for a second opinion,” says Joanie.
Joanie, we should note, was a long-time KARE 11 employee, managing our sales department until recently.
At 33 weeks, the doctors at Mayo decided a cesarean section (C-section) was the best option, and Jorie Kraus was welcomed into the world.
“They immediately ended up putting her into one of those incubator things and shipped her off over to St. Mary's campus where I met her over there and Joanie stayed at the Mayo side of the campus and I had both women in my life in two different buildings and trying to split time with both and keep them both ok,” Dave recalls.
Jorie went on to spend 73 days in the NICU. It turned out she had not one but five heart issues, among some other physical anomalies, but nothing that couldn't be overcome.
“How are we going to fix it, and how are we going to address it? And this wonderful surgeon said, 'Hey, don't worry about it. We're going to figure this all out. You just need to worry about who she's taking to prom,'" says Joanie.
Joanie and Dave allowed themselves to exhale. But it's not where their baby girl's story ends.
Genetic testing came back showing a problem. Jorie was missing part of her chromosome 10. A spontaneous deletion during pregnancy, meaning it was not inherited from either parent, which is why it wasn't caught during the IVF process. Jorie was diagnosed with DeSanto-Shinawi Syndrome, a rare genetic disorder that was the cause of her physical issues but would also cause low muscle tone, developmental delays and intellectual disabilities. At the time, just a couple dozen people in the world had the same diagnosis.
"Joanie was asking a little bit about what does that mean? And I just sort of piped up and said, 'That means it's permanent. There's nothing with this one. This one doesn't have a fix. This one doesn't have a surgery,' and that's when I had to get up and leave the room," Dave said.
With no cure, early interventions, like physical and speech therapies, were the only options. A year passed, and as Jorie fell behind with her milestones like crawling and talking, Joanie and Dave pushed forward, fighting for answers.
“We're at the best hospital in the world. Where's the groundbreaking genetic research? And she had this big smile. This big, big smile and she goes, 'Have you met Dr. Whitney Thompson?'”
They had, in fact, met Dr. Thompson. She was working in the NICU when they ordered the genetic testing or rapid genome sequencing for Jorie right after birth. And since that time, Thompson had started a new project with Dr. Laura Lambert called BabyForce.
"We can send this comprehensive genetic test Day One in the NICU and get a diagnosis within that first week of life, and it can really make a huge difference for patients, but often we get the diagnosis, but we don't have a treatment, and that's really where Babyforce comes in," says Thompson.
The doctors take a patient's skin cells and grow them in a lab. Using Artificial intelligence, they search for already FDA-approved drugs that could potentially help. Then they test them on the patient's lab-grown cells to see if it works.
“Taking a drug that is already approved, and already known to be safe, and known to have a safety profile in children, really circumvents all of those issues that the rare disease population faces. So, we don't have to have that major investment into running a clinical trial because it's off-label use,” says Lambert.
For Jorie, the top hit from AI was an inexpensive drug commonly used to treat seizures in children. In the lab, it worked like a charm, boosting the levels of her working chromosome to compensate for the deleted one. Since the concept is so new, they had to go through ethics and legal departments first. Jorie just started taking the medicine a few months ago. Turns out, it is working like a charm in real life, too. Within days, Jorie started walking with a walker, going up and down stairs, and even starting to say words.
"It's like she was getting the information and understanding it but just couldn't figure out what to do with it, and now she's starting to figure out what to do with it,” says Joanie.
A treatment for an ultra-rare disease would normally take years—if at all. The success in Jorie's case opens a door of hope for others in the future.
“We're focused on the NICU because, certainly, the earlier we intervene, potentially the more impact we can have on somebody's life, and the hope is we can move that timeline up even more, and start treating before symptoms even develop," says Thompson.
“We know this could benefit patients who are born with genetic differences, but it also has applications for cancer, for example, where we could sequence an individual's tumor and understand what's causing the cancer and look for drugs using AI to try to have an impact for those patients as well,” adds Lambert.
Endless possibilities. Which is also what these doctors have given Jorie.
"She's going to be the best Jorie she can be. The barriers have been lifted for her," says Dave.
“She's just such a joy, and you know, we just hope that out of all of the hardship that we went through and all that she has gone through, that it will be a beacon of hope to others,” says Joanie.
In fact, it’s the reason they are sharing their story, to pay it forward. None of this process was covered by insurance. It was all funding from Mayo and private donors. The Krauses have started both a GoFundme and a charity called The Jorie Effect to help other children with rare diseases have access to this kind of medical care.
Thompson and Lambert have already presented their findings at several medical gatherings and will publish their work and findings at the end of July.
Author: Rena Sarigianopoulos
https://www.kare11.com/article/news/local/kare11-extras/medical-breakthrough-using-ai-at-mayo-clinic-hope-rare-disease/89-76ef7169-21df-4934-b7f3-4a5c7dc7894a
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