AI Helps Doctors Find Treatment for Baby's Rare Syndrome

Jorie Kraus spent her first 73 days in the NICU, fighting to breathe with a rare genetic disorder that doctors said had no cure. Her parents, Joanie and Dave, watched their daughter turn blue during oxygen crashes so often that they stopped asking if it happened and started asking how many times each night.

Jorie had DeSanto-Shinawi syndrome, a condition so rare it was only discovered in 2015. The disorder causes severe muscle weakness and developmental delays because of abnormalities in a gene crucial for brain development.

By age two, Jorie still couldn't walk independently or speak. She sat apart from other kids at daycare, observing but unable to join in. Her parents felt stuck with a treatment plan that seemed to be little more than physical therapy and hope.

But Dr. Whitney Thompson hadn't given up. The Mayo Clinic fellow who helped diagnose Jorie had been working behind the scenes with researcher Dr. Laura Lambert on something groundbreaking.

Lambert had been using an artificial intelligence program that could scan thousands of existing medications to find unexpected treatments for rare diseases. The AI doesn't invent new drugs but identifies ones already approved for other conditions that might help patients like Jorie.

About 20 percent of medications are already prescribed off-label for conditions they weren't originally designed to treat. Heart medication has helped PTSD patients with nightmares. Viagra has successfully treated certain infant heart conditions. But finding these connections traditionally required years of research that rare disease patients don't have.

The AI could do in hours what would take human researchers months or years. It analyzed molecular pathways, genetic interactions, and drug mechanisms to find potential matches for Jorie's specific syndrome.

Why This Inspires

This story represents a turning point in how we approach rare diseases. There are over 7,000 rare diseases affecting 30 million Americans, and 95 percent have no approved treatment. Families like the Krauses typically face what doctors call a "diagnostic odyssey" that takes five years or longer, followed by the devastating news that nothing can be done.

Now, AI is changing that timeline dramatically. What once required massive research teams and endless funding can happen while a baby is still in the NICU. The technology doesn't replace doctors but empowers them to explore treatment possibilities that would otherwise remain hidden in millions of pages of medical research.

For Jorie's parents, who had resigned themselves to watching their daughter struggle, the work happening quietly in the background offered something they thought they'd lost: a chance at answers.

The combination of Thompson's clinical expertise with Lambert's AI tools shows how technology and human compassion can work together to solve problems once considered unsolvable.