How a Microsoft software developer’s son’s misdiagnosis sparked AI DxGPT, a ‘game-changer’ for rare disease diagnoses

Artificial intelligence is often discussed in terms of the future, but it has already become a real hero for many families living with rare diseases.

When Julián Isla’s newborn son Sergio suddenly started shaking during a bath, panic set in. What followed was an exhausting 10-month search for answers, filled with hospital visits, misdiagnoses, and heartbreaking uncertainty. Sergio was eventually diagnosed with Dravet syndrome, a severe neurological condition that causes frequent and dangerous seizures. But by then, he had already suffered greatly.