Onno Faber at a singing lesson in San Francisco. (Photographs by Winni Wintermeyer)

The Clock Is Ticking Faster for a Patient Turned Medical Disruptor

Investors and families are counting on Onno Faber to galvanize research into neglected conditions—like the one threatening his hearing and sight.

Onno Faber, a 36-year-old tech entrepreneur, stands straight up in the center of a modest living room, his shoeless feet planted in the gray striped rug. He looks trustingly at the music teacher who faces him, flashing her his frequent, accepting smile. Then he takes a breath, lifts his clear tenor voice, and sings.

Tomorrow, Onno will be video conferencing with parents of children who have rare diseases, to pitch them on his new tech platform to propel unconventional medical research. Today, he is far away from all that, as his voice reverberates through this little San Francisco room, lifting it up and away from the desperate streets of the Tenderloin neighborhood below. The notes vibrate in his wavy blond hair and green eyes, and in the tumor that’s growing quickly on his right hearing nerve — the only hearing nerve he has left. Onno is hearing the sound fill his body while he still can, before neurofibromatosis takes the other nerve away.

There comes a moment in any quest when it pivots from idea to reality. The blueprint is sketched, the parts are assembled, and someone hits the ignition — and with that, the idea is no longer in a safe, controlled space. Other people are watching now, influencing it, invested in it. The transition is equal parts exciting and scary. There is no turning back now.

Onno has hit that moment in two quests at once, one professional and one personal. Professionally, he is working apace to build an online application that will disrupt and accelerate the development of drugs for rare diseases. Personally, he is striving to use that same technology, along with his genetic data, to find a treatment that will prevent him from becoming deaf, blind, and unable to walk, before it’s too late.

Both efforts began a year ago, when 150 biologists and informaticians convened for a weekend hackathon in San Francisco to search Onno’s genetic data for clues to the cause of his tumors. (NEO.LIFE has been following the story since then; you can read the first episode here.)

Onno, a Netherlands native living in the Bay Area, had hatched the plan with his tech-industry friends. Their basic idea was to use powerful computer analytics on patients’ data to identify new treatments for their neglected diseases. Since then it has evolved into a fast-growing startup company that just raised $3 million in seed funding. It has registered 150 patients using its Web platform. And it’s collaborating with researchers at the National Cancer Institute to track pain symptoms in people with a type of neurofibromatosis called NF1. It is time for Onno’s idea to be tested.

The company, called RDMD, provides patients an online “locker” in which to store their entire medical record. Rather than wrestling with copious binders and CDs, chasing documents scattered across multiple hospitals and clinics, they can keep everything immediately accessible. They can easily share those records with rare-disease specialists, whom RDMD will help them find. And in time, they should be able to use RDMD to arrange for new medical tests.

RDMD is one of many emerging companies aiming to mine data for new insights about health and to personalize treatments for individual patients’ mutations. Yet it is distinguished by, among other features, its specificity. The platform launched with a setup devoted to Onno’s form of neurofibromatosis, NF2, which causes tumors to grow on the nerves that enable hearing and balance. For people with that diagnosis, RDMD’s platform tracks records such as hearing tests and radiology reports. Eventually, RDMD will scale up to serve patients with other rare diseases, as well, and the records it holds will be tailored to their needs.

By keeping specific data for each rare disease, on everything from drug responses to everyday symptoms, and by forging relationships with patients with those diagnoses, RDMD could make itself a one-stop partner for any pharmaceutical company that might research a treatment. Onno calls it “patient-accelerated drug development.”

One mother calls RDMD “exactly what we’ve needed.”

“If the data is not in the hands of the individual patients, it is not very easy to get access to it,” he says. Empowering patients to upload and house their own data is “going to liberate it, because patients, of course, want to contribute to whatever helps drive research forward.”

Already, around 15 patients have used RDMD to consult with a specialist located far from their homes. One father in Israel used it to consult with specialists in Los Angeles, Boston, and Paris before deciding whether to proceed with a risky surgery for his 10-year-old daughter, who has NF2.

And already, pharmaceutical companies have approached RDMD about tapping its data for research, says Onno’s cofounder, Nancy Yu, who previously led corporate development at 23andMe. Some, however, have wanted to do it the old way, treating the information as proprietary.

“We’ve already had partners who are willing to throw hundreds of thousands of dollars at us, but they want exclusive rights to that data, and we’re like: there’s no way,” she says. “We’re working for the patients first. … Especially in rare [diseases], you can’t afford to have these data silos. That’s been a thing of the past.”

A clip from a singing lesson, courtesy of Onno Faber

Onno has personally promised patients that they will control their medical data. In May, he stood in front of several dozen patients, and parents of patients, at the Children’s Tumor Foundation NF Forum in Atlanta and told them that they will have the opportunity to opt their own records in or out of any study hosted on RDMD. In June, he promised a group called NF Moms Rock, via video conference, the same thing.

“You accept that responsibility by going out with it and presenting it to patients and raising the money,” Onno says. “That’s the moment when you are officially committing to the problem. … It’s just a point of no return.”

Onno is simultaneously making a watershed choice for himself: to try a drug that isn’t approved for NF2, in hopes of shrinking the tumor in his brain. In the same month this spring when he raised RDMD’s seed funding and got his green card to remain in the U.S., Onno received MRI results that confirmed the tumor had grown 35 percent in the past six months.

It was Onno’s quest for data that led him to decide on this new drug. A genome analysis that Onno had before last year’s hackathon showed that he had a mutation on chromosome 7 that could be contributing to his particular case of NF2. And there is a drug that can essentially patch that mutation. It’s called lapatinib, and it’s typically used to treat breast cancer. But it’s not approved by the Food and Drug Administration for NF2, so even though doctors can prescribe it, health insurers are not obliged to cover it.

The price tag for Onno’s prescription runs an estimated $10,000 a month. His doctors urged him to get the new MRIs to strengthen his case for insurance coverage, by showing that the tumor on his right hearing nerve was growing quickly. The MRI results have confirmed that fact, and his insurance finally will cover the drug. He expects to start taking it soon.

Onno marks the changes in his condition not by everyday increments, but by events, and the decision to try lapatinib is another milestone. “That makes this very real again,” he says. “Like: oh fuck, I might get these pills for the first time.”

Onno feels pretty much the same from day to day — except that he notices his balance getting a little worse, especially in the dark, on uneven pavement. Lapatinib will probably make him feel worse. Its side effects typically include nausea, vomiting, diarrhea, sleeplessness, and painful, peeling skin on the hands and feet. But he wants to try it while his tumor is still fairly small; it’s about a centimeter across. He wants to have time to try something else if lapatinib doesn’t work. It’s a logical choice, not an emotional one, he says: “It’s like a calculator, and you do what the calculator tells you.”

Whether lapatinib works for Onno is just as unknown as whether RDMD will thrive as a business.

Chris Garabedian, founder of the biopharma accelerator Xontogeny, who is not involved with RDMD, says a critical factor will be whether the startup offers a unique resource to the pharmaceutical industry. “We haven’t seen a lot of great examples of how companies have been able to monetize or create great value from just the collection even of comprehensive data sets,” he explains. To change that, RDMD needs to serve as a partner to drug companies in designing studies, building on deep and indispensable knowledge of each disease.

“If RDMD says, ‘We understand NF patients better than anybody. We have a database of them and real-time access to them. We have not only genetic information but natural history, drugs they’ve been on. We actually understand what endpoints you should be capturing in your clinical trial, and we can help you shape your clinical protocol,’ … that becomes probably the strongest value proposition that I’ve heard,” Garabedian says. To get there, he cautions, the company has to use its seed funding wisely, to land a significant research contract and demonstrate clear value before it needs its next infusion of money.

Onno and Nancy understand that RDMD has to deliver that kind of value. They say they’ve built the platform to comply with FDA regulations so that the data it holds can be used to measure the performance of drugs through clinical trials. They hope to provide patients access to tests and services that are hard for individuals to arrange, such as volumetric tumor studies—special analyses of high-resolution MRI scans that calculate the three-dimensional growth of a tumor over time. And RDMD is finalizing a contract with a lab that will sequence the genomes of RDMD users.

About 15 patients on the platform already have said they want the genome analysis and are prepared to pay the $2,000 cost. When that’s done, it will make it possible to do something that Onno has been pursuing for a year — to mine a bigger set of genomes for discoveries about the possible causes of NF2, building on the clues that emerged from his own genome at the first hackathon. He is planning a second hackathon for this fall.

“We have this opportunity to discover all of the things we don’t know yet,” he says.

Sheila Cohoon, a leader of the NF Moms Rock group who lives in Clinton Township, Michigan, calls RDMD “exactly what we’ve needed.” Her 9-year-old son, Nic, developed NF1 as an infant and suffers from its associated learning disabilities and low muscle tone. But Cohoon adds a warning for Onno as he develops this rich online resource: “He has to get the security to be bulletproof. Every day you’re hearing about how somebody’s hacked into this or security has broken on that. … People are still scared of it.”

Around the time of the first hackathon, and two years after getting diagnosed with NF2, Onno started taking singing lessons with teacher Emily Thebaut. Even as a child he wished he could sing, he says, but the pursuit seemed too “vulnerable.” Then he learned he had a disease that would probably make him deaf, on a timetable no one can predict. His first tumor took the hearing in his left ear. He figured he’d better start singing now.

There is so much going on now, in both Onno’s business and his illness, that when he talks the details spill out of his mouth as if he almost doesn’t know what to say first or next. “It’s good,” he says. But, for the first time since last summer’s hackathon, there’s a hint of hesitation in his voice.

“It’s like a calculator, and you do what the calculator tells you.”

Onno sets those concerns aside at his singing lesson, as Emily warms him up with scales. Near the bottom of his range, he giggles: “Sorry, nervous laugh.” She pushes him one note further.

With his right hand on his belly, he breathes deeply. Band-Aids wrap around four fingers on that hand, where he tore them up at the rock climbing gym the day before. His socks, a festival of multicolored polka-dots, actually match today, unlike usual.

Onno sings with the same openness and eagerness to learn that he brings to genomics and biotech business, laughing with each error that leads to a lesson. Emily has urged him to sing publicly, but he’s not in this to perform. He practices songs while walking the streets of San Francisco. Sometimes he gets quieter when someone passes, sometimes he brushes aside self-consciousness and carries on. He likes when that happens.

“When it works there is a mode of not thinking,” he says about singing. “It’s very liberating, very free, like you don’t care about anything, you’re just getting it out there.”

Free the voice, free the spirit, free the data.

Emily completes the warmup, and it’s time for Onno to choose a song. He calls up the lyrics on a digital tablet, holds it aloft, and sings:

“In your dreams, whatever they be, 
dream a little dream of me.”

This story was updated on July 1, 2018, because Onno’s insurance company approved his use of lapatinib.

Read more in this series:

Like what you read? Give Grace Rubenstein a round of applause.

From a quick cheer to a standing ovation, clap to show how much you enjoyed this story.