Parents Learn Drug Development to Save Their Kids

When your child has one of the 95% of rare diseases without a cure, waiting for a pharmaceutical company to help isn't an option. So parents are learning to develop the drugs themselves.

Ultragenyx hosts Rare Bootcamp twice a year, a free multi-day program teaching families how to navigate the complex world of drug development. The biotech company launched the program nine years ago to give desperate parents a fighting chance.

Mike and Evelyn Ribadeneyra spent 20 years searching for answers before their daughter Abbie was diagnosed with hereditary spastic paraplegia type 26, a progressive neurodegenerative disorder. When they discovered a gene therapy existed for a similar condition, they knew they had to act.

"We've been on a long journey, but our new journey begins at rare disease boot camp," Mike Ribadeneyra said at April's Boston event. The couple came seeking a roadmap to convince researchers to study their daughter's condition and develop a proof of concept for treatment.

Laura Wilson founded ReNU2 United after her daughter Ellia was diagnosed with a rare neurodevelopmental disorder only identified in April 2025. After nine years without answers, she's now connecting 60 families across 17 countries who share the same diagnosis.

The bootcamp covers everything from early science to regulatory approval across more than 20 sessions. Experts from companies like BioMarin, BridgeBio, and Alexion volunteer their knowledge to help families understand the billion-dollar, decade-long process of drug development.

Ultragenyx CEO Emil Kakkis started the program after struggling through his own early research efforts. "There's no book, there's no 'CliffsNotes' on how to develop a drug," he said. "I promised myself that if I ever knew how to do it, I was just going to tell everyone else that needed it."

The Ripple Effect

The impact extends far beyond individual families. Rare As One, a Chan Zuckerberg Biohub project supporting patient-led research, found that half of the 20 organizations it funded in 2019 reached clinical trials within five years. That's remarkable progress for groups led mostly by parents with no medical background.

The bootcamps also create community among families facing similar isolation. "We felt so alone for so many years, and my daughter feels so alone," Mike Ribadeneyra shared. "To know that there are other people going through the exact same process is really encouraging."

Wilson echoed that sentiment despite no one at the event sharing her daughter's specific diagnosis. "That experience of being a parent to a child with a rare disorder is so unifying that you sort of get it right away."

These parents are proving that determination combined with the right resources can move mountains, one rare disease at a time.