How a Microsoft techie-father's pain and Satya Nadella's 5-minute email reply sparked a free AI healthcare revolution

Just three months after Julián Isla and his wife welcomed their baby boy, Sergio, into the world, their lives were thrown into chaos. One seemingly normal day, while giving their infant a bath, they witnessed a horrifying scene—Sergio’s tiny limbs began to jerk uncontrollably and his body became rigid. Alarmed and confused, the parents rushed to the nearest hospital, unknowingly starting a long and emotionally grueling expedition through the maze of medical consultations.

What followed was a nearly year-long period filled with confusion, fear, and a lack of answers. Numerous visits to specialists and repeated misjudgments led to misdirected care. It wasn’t until ten agonizing months had passed that they finally received a diagnosis—Sergio had Dravet syndrome, a rare and severe neurological disorder that typically affects infants and toddlers. The experience was so harrowing that Isla vowed no other family should have to endure a similar ordeal.

The Weight of Helplessness

Reflecting on those difficult months, Isla described feeling powerless. He was tormented by the inefficiency of the system and was baffled at the lack of advanced tools available to medical professionals. “It felt like carrying an invisible burden,” he told Microsoft magazine. “We were filled with doubt and fear and spent an incredible amount of time and resources chasing after explanations.”

In the early days of Sergio’s illness, one physician’s inaccurate assessment led to inappropriate treatment, resulting in Sergio suffering up to 20 seizures in a single day. Despite this, Isla acknowledged the doctor’s limitations. “He did what he could with the resources he had,” Isla observed.

Tech as a Lifeline

Professionally, Isla worked as a software developer at Microsoft’s Madrid office. With his background in technology, he began to wonder if digital innovation—especially artificial intelligence—could provide a breakthrough for diagnosing rare diseases like his son’s. He envisioned a solution that could quickly and accurately analyze symptoms and offer reliable diagnostic insights, helping both doctors and patients avoid prolonged suffering.

Motivated by his personal experience, Isla transformed his grief into purpose. He emerged as one of Spain’s prominent voices advocating for rare disease awareness and innovation in healthcare. With time, it became evident to him that computing power, particularly AI, could revolutionize how rare conditions are identified. These diagnoses often require interpreting massive amounts of data—an area where machines excel.

“Artificial intelligence is a bridge,” he said, calling the diagnostic journey an “odyssey” that no one should have to take alone.

A Mission Comes to Life

In 2017, when Sergio turned nine, Isla took a bold step. He co-founded Foundation 29, a nonprofit committed to using AI for medical advancements. That same year, a serendipitous moment occurred—Isla watched Microsoft CEO Satya Nadella deliver a speech where Nadella shared his own family’s journey, revealing his son’s battle with cerebral palsy. The message resonated deeply.

Isla immediately reached out to Nadella via email, sharing Sergio’s story and outlining a vision where technology could be a game-changer for undiagnosed patients. To Isla’s astonishment, Nadella replied within five minutes and directed him to Microsoft’s AI healthcare teams.

Transforming the Vision into Reality

The nonprofit’s initial achievement was building a clinical-level diagnostic tool powered by simple AI algorithms. By 2023, their innovation reached a new peak with DxGPT, a next-generation diagnostic assistant built on advanced language models and hosted via Microsoft’s Azure platform.

DxGPT employs GPT-4o and o1 models, trained on public medical knowledge and proprietary datasets from healthcare partners. These models analyze symptoms and provide a summary of likely diagnoses—all within minutes. Importantly, the tool maintains user privacy, requiring no personal identifiers and storing no data. Patients or caregivers can simply describe symptoms and receive a preliminary diagnosis, which physicians can then refine using tests and clinical judgment.

Now freely available online, DxGPT offers a powerful starting point for those navigating mysterious health conditions—bringing hope, precision, and speed to families in need.