When You Save Lives and Nobody Notices

When You Save Lives and Nobody Notices

The untold story of a diagnostic test that no VC backed, yet saves thousands of lives.


Is it a good deed if no one sees it? In the start-up echo chamber, we celebrate big wins—the unicorn valuations, the headlines. But what about the quiet successes that don’t go viral? Does silence mean failure?

Her name was “Gabriela”. She was 3 years old, confined to a stroller, sleeping most of the day due to a mysterious, rare disorder that stumped her doctors in Madrid. In 2017, I met her parents at a café. Exhausted but hopeful, they handed me a bottle of Rioja in gratitude for taking time to speak with them while I was on vacation. This meeting—and their faith—sparked the story of NewbornDx, a diagnostic test we built at Parabase Genomics to solve cases like hers.?

Two years earlier, I was working at Roche, fresh off its acquisition of NimbleGen, where we developed the first genome enrichment technology. But after a rocky introduction with my new sales manager, who told me I wasn’t “a good fit,” I knew I wanted to leave. After working with Richard Lifton’s group at Yale on the ion channel mechanism I’d seen how genomic tools could change lives, and I wanted to focus on solving inherited disorders for newborns and neonates. That decision led me to co-found Parabase Genomics with Andy Bhattacharjee, Ph.D., a former colleague from Agilent.

We started with a vision: a test that initially screened for a handful of genes and then grew it to 1,700 genes, far surpassing the ~50 metabolic disorders covered by traditional expanded newborn screening. We raised some funding, opened a next-gen diagnostic lab in Seaport, and got to work. But diagnostics isn’t a VC darling. It’s slow-moving, highly regulated, and the market wasn’t deemed “big enough.” Funding was a constant battle, and the strain took its toll on the company’s culture. By four years in, Andy and I barely spoke outside of weekly meetings. Toxic dynamics had crept in, and I hadn’t prioritized building a healthy team environment.

Out of desperation, I reached out to Stephen Kingsmore, a pioneer in rapid whole-genome sequencing, about collaborating on a $25M NCATS grant for translational medicine in newborns. Stephen had visited our lab in Boston as a potential CSO or board member the years before. With his help—and support from partners like Richard Parad at Brigham and Womens, Jerry Vockley at UPMC, and institutions like Mt. Sinai—we secured the funding. But it came one month late. Parabase was already winding down, and we had to let our team go. I worked to sell the assets, and Quest Diagnostics eventually acquired NewbornDx launching it under their Athena Diagnostics business unit.

The grant and study, which tested 400 neonates, led to results published in JAMA. From the study, we identified diagnostic genetic variants in 51% of critically ill newborns, potentially saving countless lives by enabling faster and more accurate diagnoses that lead to life-saving interventions.

And today, the NewBornDx test saves lives every week. But none of this mattered to investors. The market was “too small,” the friction “too high,” and no one saw financial success. Not the founders. Not the investors. The only ones who benefited were the parents of these newborns—parents who likely have no idea how their children got the help they needed.

This experience forced me to redefine success. After Parabase, I built pitches for my next two companies while in the Techstars Boston Program, centered on accelerating access to scientific tools and services to save lives. Each time, I used Gabriela’s story to illustrate the stakes. But I was told, “That picture of the ‘deformed’ girl makes people uncomfortable.” I removed it. I made the stories more palatable. But looking back, I wonder: at what cost?

Discomfort drives change. Had we avoided the uncomfortable truths at Parabase, those newborns might not have been tested. Some would have died. Others would have been irreversibly damaged.

So I ask: What is success? Does it only count if it’s loud and visible? Or can unseen impact be its own reward?

This post is for all the “Gabriela’s” out there—and for those who build solutions, even when no one believes in them.?

…And yes, we did provide a diagnosis for “Gabriela”!

Lourdes Nu?ez-Müller, PhD, MBA

Director of Knowledge Transfer, Internationalization and Entrepreneurship at PTS Granada and Co-Founder at WA4STEAM

2 个月

Great story and impact saving thousands of lives. Proud of your mentorship in AcexHealth Gabor Bethlendy! Christmas seems to lead us to do, to rediscover our immense dignity as human being. And we always need to rediscover this vision of who we are, of our identity.

Todd Snowden

Start-up and SME strategies for success. MedTech, Medical Device, Diagnostics & Digital Health. Strategic Consulting, Board Member, Interim Management

2 个月

Congratulations for the impact you made, whether anybody noticed or not!!

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