Austin Lab Creates Custom Drug to Save Baby With Rare Disease

A tiny baby in Austin is getting his own custom-designed drug, and it could change how we treat the rarest diseases on Earth.

Everett Blomstrom was born with a genetic condition so rare that fewer than 50 people worldwide have it. His HK1 enzyme stays stuck in the "on" position, flooding his brain with toxic buildup that causes seizures and neurological damage. Doctors told his mom Marissa that about half of children with similar mutations don't live past age eight.

But after months of devastating news, Marissa found hope at AlphaRose Rare Labs right here in Austin. The company creates custom therapies for individual patients, taking on cases that big pharmaceutical companies won't touch.

"This is a 1 in 10,000,000,000,000 drug. This drug will help one person," said Rodney Bowling, the lab's chief science officer. The therapy aims to go into Everett's DNA and stop it from producing the toxic protein causing his symptoms.

The treatment follows what's called an "N-of-one" clinical trial, built for a single patient. It's personalized medicine at its most personal.

To keep costs manageable, the lab runs lean. They use robotics and artificial intelligence to speed up development and rent space at Austin Community College's BioIncubator. The timeline is just two years, lightning fast compared to traditional drug development that can take a decade.

The challenge is funding. The experimental therapy could cost up to $3 million, and insurance doesn't cover it. Marissa is racing to raise the money, determined that finances won't stand between her son and a chance at life.

Why This Inspires

This story shows how science is becoming more personal and accessible. What once seemed impossible—creating a unique drug for a single child—is now happening in Austin labs. Rare Labs was founded by a father trying to save his own daughter, proving that parent advocates can drive real scientific innovation.

The work doesn't just help Everett. Breaking down conditions at the molecular level reveals that diseases like autism and epilepsy may actually be collections of rare genetic causes. Each custom therapy developed teaches scientists more about treating other children.

And while the price tag seems steep, it's a fraction of what traditional drug development costs. Big pharma spends billions developing treatments that must work for millions to be profitable. This new model makes it possible to help the kids who would otherwise be left behind.

Everett spends his days cuddled with his mom, listening to her read stories while machines monitor his breathing. His grandmother moved from Minnesota to help with daily tasks. It's not the life Marissa imagined, but she hasn't given up hope that her son might shock everyone and heal.

The next two years will determine if personalized medicine can save a life that seemed unsaveable.