With a nudge from AI, ketamine emerges as a potential rare disease treatment
In the seven difficult years since their son Mateo was diagnosed with a rare disease, Victoria Malvagno and Frank Solorzano have been waiting for medicine to catch up with their lives.
Doctors tested Mateo for hundreds of conditions before they finally determined he was one of only a few hundred people in the world with a neurodevelopmental condition called ADNP syndrome. Even with a diagnosis in hand, just getting through each day has been a full-time job. Mateo communicates mostly nonverbally, and his parents must constantly be on alert to make sure he doesn’t hurt himself. For years, they have muddled through managing his many symptoms piecemeal, because there’s no treatment approved for the rare genetic disease.
