In March 2020, as COVID-19 spread across the country, Hosea and Lauren Rosenberg’s world had already come to a halt. Days before the pandemic forced the couple to shut down their Boulder restaurants, Blackbelly and Santo, they learned that their then two-year-old daughter, Sophie, had multicentric carpotarsal osteolysis (MCTO), a painful, progressively crippling genetic disorder that can be life-threatening due to its accompanying kidney failure. Sophie shares the disease with approximately 30 to 50 other people on the planet.

In the past, the heartrending prognosis might have been the final word. Today, however, parents like the Rosenbergs are leading searches for treatments and cures—and in the process, they’re changing how the medical community thinks about these under-researched diseases. “[Sophie’s doctors] basically printed out a stack of papers and said, ‘Here’s the literature that exists about this disease, but there’s nothing you can do to treat this,’ ” Lauren says. “We were just stunned…. I could tell right away that we needed to do way more. We had to take it upon ourselves.”

That’s not to say the Rosenbergs were without a model to follow. Julia Vitarello, also from Boulder, established a nonprofit dedicated to fighting her child’s disorder in 2016, when her then six-year-old daughter, Mila, was diagnosed with the rare, fatal, cureless Batten disease. Vitarello leveraged the internet—a game-changing resource for this generation of parents—to access obscure studies, connect with other patients, and solicit donations. Mila’s Miracle Foundation eventually raised nearly $5 million to pay for a number of different rare disease projects, including an innovative genetic treatment specifically tailored to Mila called milasen. That personalized care helped stabilize Mila’s seizures and improve her quality of life before she died from her disease in February 2021.

Vitarello’s example—as well as that of Amber Freed, another local mom whose nonprofit, Milestones for Maxwell, has brought in about $2 million to treat her son’s genetic disease—inspired the Rosenbergs to start Sophie’s Neighborhood. As of early December, Sophie’s Neighborhood had raised nearly $1 millon through virtual auctions and partnerships with local chefs (Spuntino, the Edible Beats group, and others, for example, sold a special ice cream flavor to benefit the nonprofit). The money funds research aimed at discovering an effective treatment for MCTO.

Some of that research is being performed by biotech companies Artisan Bio of Louisville and Boulder’s SomaLogic, whose founder the Rosenbergs know through the restaurant industry. But Lauren says it’s because parental advocacy has raised the profile of rare genetic conditions that biotech and pharmaceutical companies are now devoting more time and resources to these types of diseases. “It’s on us,” Lauren says. “There’s no one else who’s going to do it.”

Hopefully, that won’t be the case much longer. Children’s Hospital Colorado in Aurora has launched a precision medicine initiative focused, in part, on tailoring treatments to patients of rare diseases. This sort of targeted care is now possible thanks to technological developments, such as using viruses to deliver healthy genes that replace malfunctioning ones, driven by rare-disease advocates—i.e., parents. “The parents I’ve interacted with, they’re a force to be reckoned with,” says Dr. Scott Demarest, a pediatric neurologist at Children’s who has worked with both Vitarello and Freed and will help lead the unit.

“Some researchers are realizing they can really make a difference,” Lauren says. “Even if it’s not specifically benefiting millions of people, you can make a greater impact on people who had no hope at all.”

Corrections: An earlier version of this story incorrectly reported the location of Artisan Bio, as well as the company’s name. We also reported that all $5 million raised by Mila’s Miracle Foundation went to gene therapy treatments tailored to Mila.    

This article was originally published in 5280 Health 2022.
Allyson Reedy
Allyson Reedy
Allyson Reedy is a freelance writer and ice cream fanatic living in Broomfield.