Onno Faber in San Francisco. (Photograph by Damien Maloney)

Power to the Patients

Racing against his own genetic disorder, Onno Faber is giving people with rare diseases the tools to make medicine work for them.

This is the third story in a series. You can read the previous stories here and here.

I n a top-floor bedroom on the north side of Chicago, Alexandra White sat at a steel-and-glass desk in a sparkly red kitchenette chair and wrangled one iridescent disc after another into the CD drive on her laptop. She uploaded thousands of images from her brother’s medical records, along with nearly 150 pages that she had scanned. Fiery and determined, Alex pulled from a massive cup of coffee as she plowed through the task.

At the same time, she appeared on a computer screen in a cave-like meeting room in San Francisco, where a sunny-tempered tech entrepreneur named Onno Faber watched her every step with rapt attention. They went on this way on a video conference for hours, Alex uploading files and commenting on glitches in the process, Onno furiously typing lines of code.

This test run of Onno’s new software was a pivotal moment in his quest to transform the treatment of rare diseases like the ones he and Alex’s brother have. Onno is on a mission to combine the promise of genetics with newfound computational power to ignite research on neglected illnesses. And this session with Alex would help launch his next stage.

Onno’s efforts began last summer in a burst of excitement. That’s when 150 hackers traveled from around the country to a San Francisco hackathon to plumb his genetic data for clues about the cause of his tumors. In the buzz of optimism and activity that weekend, it felt like discoveries were nearly at the hackers’ fingertips.

“You’re literally juggling CD-ROMs. That’s just so remedial.”

Now, with the hackers dispersed and the free pizza long since devoured, Onno’s work has evolved into a quieter, methodical march. After the hackathon, he had a sober realization: crowdsourced bioanalytics can produce only limited conclusions with just a few patients’ genomes. Also, genome sequences alone aren’t enough to crack the codes of disease. You also need to know about the people those genomes belong to, their medical histories and experiences. Before the discoveries must come the data.

So Onno is building the digital product that he believes will entice patients with rare diseases to share their data. Once he’s collected a critical mass, Onno aims to use machine learning to disrupt the narrow, slow old model of medical research for the benefit of patients like him.

To succeed, he needs partners like Alex.

Crashing into obstacles

Beyond their Chicago apartment, Alex and her brother Francis tour the country and the world as the musical duo White Mystery. In rock clubs and on festival stages, Alex blitzes on the guitar and belts out their brand of ferocious rock, while Francis slams on the drum kit. They have played Last Call with Carson Daly and SXSW, opened for Iggy Pop and Patti Smith. While Francis pounds out rhythms, few fans realize that he is playing through searing pain, as tumors pinch the nerves threading through his pelvis.

Francis, who is 30, has neurofibromatosis 1, or NF1, a disease related to Onno’s NF2. “The first symptoms I remember feeling must have been about the fifth grade,” he recalls. “I started feeling a stabbing pain in my groin, in my leg and my toe, like being stabbed with a knife. I was told that it was growing pains, that it was normal for boys to go through that at that age.” But the pain intensified and became almost constant. Alex and Francis’s parents tried remedy after remedy and combed the country for experts who could explain and ease it. Not until Francis was a high school sophomore did an MRI reveal the cause.

NF1 is a rare disorder in which nonmalignant tumors grow along nerves and under the skin. In NF2, the tumors typically grow on the nerves in the brain that facilitate hearing and movement. Onno’s tumors, which he discovered in 2014, when he was 33 years old, have already taken the hearing in his left ear. Over time they are likely to claim the rest of his hearing, and possibly his eyesight and ability to walk, as well. It’s impossible to say when.

Both NF1 and NF2 are rare, which means they get relatively little attention in medical research. Neither Francis’s nor Onno’s case is considered fatal. But both diseases are extremely difficult to treat.

Francis Scott Key White and Alexandra White. (Photo by Diane Alexander White)

The diagnosis and treatment of a rare disease typically involves a frustratingly long and meandering journey from specialist to specialist and test to test. First, finding an expert in your particular disease can be tough. Then, at each step, the patient has to wrangle his medical record — a copious collection of files stored in various clinics and hospitals and subject to important but cumbersome privacy restrictions — from one consultation to another, all while his illness rages on. The mere transfer of information, a prerequisite to any prospect of progress, can take months. That’s where Onno’s product comes in.

“Patients walk around with big binders, literally, all the files in it, all the CDs,” says Onno. “You’re literally juggling CD-ROMs. That’s just so remedial.”

His solution is a startup company called RDMD. The company will streamline patients’ journeys through two tools: a referral engine for rare-disease specialists and a medical-history app that’s a more organized, elegant, portable version of that bulky binder.

Onno and his partners are building the specialist database by hand, based on doctors’ research publications and clinical experience, starting with experts in NF2. In the app, a patient uploads her medical history: test results, diagnostic images, surgery records, doctors’ notes. The software stores and organizes that mountain of data and uses it to generate useful reports. The timeline display, for instance, chronologically shows the critical facts and moments in a patient’s illness, from first diagnosis to surgeries to tumor scans. The app extracts key facts from MRI scan metadata and uses them to plot tumor growth on a graph. Doctors can open a patient’s portfolio in a Web browser and see it all.

Other products, such as Microsoft HealthVault, have already offered patients a place to store their medical data. What’s distinct about RDMD is its specificity. Onno’s tool is tailored to rare diseases, beginning with neurofibromatosis. It collects the exact stats and facts in a patient’s history that are relevant to their disease and creates the snapshot that a doctor would need to give a second opinion or conduct research.

Onno himself wishes he’d had a tool like this earlier. As technically sophisticated as he is, and as extensively as he’s educated himself about his medical options, he is still crashing into obstacles made by the medical system’s inefficiency.

“I don’t know where the end is. I have no idea. It’s the beginning.”

Here’s a big one: His genome analysis last summer revealed that he might benefit from lapatinib, a drug commonly used for breast cancer. There’s a doctor willing to prescribe it to him “off label,” which means it would be for something other than what the Food and Drug Administration approved it for. But because lapatinib isn’t approved by the FDA for NF2, his insurance won’t cover it unless he proves that the tumor on his right hearing nerve is growing at a certain rate. That requires two high-resolution MRI scans, six months apart. Yet of the seven scans Onno has undergone, all of which sufficed to guide his treatment, only one was sharp enough to satisfy this requirement, and it happened years ago.

“If I would have known that, I could at least have talked to my doctor and seen if it made sense” to do the earlier scans at higher resolution, laments Onno. Consequently, he has programmed his app to detect the resolution of MRI scans and automatically alert patients to ask their doctors about getting sharper ones. If he can’t rewrite his own experience, at least he can program a better one for fellow patients.

Rocket science

For this phase of his mission, Onno the patient advocate has morphed into Onno the startup founder. He has a cofounder, Nancy Yu, the former corporate development lead at the personal genetics company 23andMe. He coded the first version of the RDMD app himself, then coded it all again in a two-week binge to make it compliant with HIPAA, a federal law meant to protect health data from unauthorized release. Perhaps most auspiciously, he got funding: a new venture capital firm has made RDMD one of its first investments. The startup gets an undisclosed amount of pre-seed funding and a network of entrepreneurial support.

Running down his list of business tasks, Onno laughs, lightly as ever. “I’m just noticing how I have changed” since the summer’s flurry of excitement, he says. “Now it’s just daily life. I’m breathing all this in and out, I’m working on this every day. And it’s good, I wouldn’t do anything else. I don’t know where the end is. I have no idea. It’s the beginning.”

Onno talks daily with fellow NF2 patients online and offers them advice based on his experience. And he needs their advice, too, to make RDMD a fit for their particular needs. He and Nancy have organized patient volunteers into “think tanks,” which meet virtually and in person to tell the cofounders what technologies would make their medical journeys easier.

RDMD’s interface for patients.

Patients are already making the app better. The first time Alex uploaded Francis’s medical history that afternoon on the video conference, it took five hours. Onno revamped the software based on her feedback, adding an MRI batch-uploader and automated data extraction — no more hand-entering data. The second time Alex tried it, the entire upload took 15 minutes.

Onno and Nancy’s business will work like this: Provide patients a product that’s immediately useful to them. In using that product, patients upload their medical histories and agree to let the company pool their anonymized data and analyze it for insights that will be shared with other RDMD users. The more patients with each rare disease who sign on, the more patterns the software can spot about their illness.

RDMD’s data analysis is meant to be more focused than what you’d find in patient forums like PatientsLikeMe. The particular data that the tool collects from each patient will depend on her disease. For example, RDMD could eventually have enough information about NF2 to trace a faster path to diagnosis, telling patients and doctors which mistaken diagnoses typically come first. (Onno cycled from sudden hearing loss to sporadic vestibular schwannoma to suspected Meniere’s disease before arriving at NF2.) It could identify whether an oncologist, geneticist, or audiologist is most likely to make the diagnosis. Maybe, when gene sequencing data is added into the equation, it could even find that people with the same genetic mutation as Onno respond well to lapatinib.

“That’s the kind of strength and leadership that is, I hope, going to shape the next couple of years of research.”

Onno sees RDMD as a way to fill the void that surrounds the treatment of rare diseases, to capture the trials, errors, and triumphs that are usually lost to the invisibility of each patient’s isolated journey. When patients do try off-label treatments — becoming one-person studies that are rarely published — RDMD can record the outcome. Patterns may emerge.

How will this business make money? Nancy answers this question with efficient logic. Biotech companies, she says, are good at making drugs but terrible at talking with patients. Especially with rare diseases, they need help finding patients to test experimental drugs. They also need the insights into patients’ preferences and treatment pathways that RDMD aims to produce in spades. Onno calls this “patient-accelerated drug development”: turning patients into real players in a system that operates in laboratories and board rooms far removed from their lives. He, Nancy, and their investors are betting that biotech companies will be willing to pay for that access — and for the data that helps us better understand disease.

“We’re not building anything super-rocket-science-y technologically difficult,” says Nancy. “But it is rocket science for patient engagement, because nobody has figured that out yet.”

Cosmic sins

This past October, right around the time Onno recoded the app for HIPAA compliance, he underwent his first high-resolution MRI in pursuit of off-label lapatinib. Then, he waited.

Without insurance, he estimates lapatinib would cost him $10,000 a month. “That’s not something that’s falling out of my pocket,” he says. “I can’t afford it, and hardly anyone can.” So he is waiting six months to have his next MRI and then see if his tumor growth satisfies his insurance company. Now and then, the tinnitus suddenly surges and cuts his remaining hearing in half for 10 minutes, reminding him that NF2 could take another piece of his abilities at any time.

While his own treatment sputters along slowly, Onno takes heart in building an engine of optimism for others.

“This is the first time we’ve met someone who’s about our age and of our mind and of the same kind of technology-forward approach to living with NF,” says Alex White. “That’s the kind of strength and leadership that is, I hope, going to shape the next couple of years of research.”

Alex is as driven and undaunted in pursuit of an independent musical career (no corporate record label, no outside manager) as she is in pursuit of relief for her brother. She spends at least an hour a day on his care, poring through research, hunting for specialists, and searching for short-term solutions for pain.

“Frustration and rage, enveloping me, salt in a wound and burning trees,” Francis chants in the White Mystery song Mars Death Pact, unleashing the pain through the drums. “War zone surgeries, drowning inside your arteries, meat caked in dust and filth, traveling the maze of time, doomed for cosmic sins, hidden in your deepest memories.”

White Mystery used to play 150 shows a year. They’re down to fewer than 70, as it’s getting harder for Francis to walk. Instead, the duo launched an online TV show, White Mystery TV, on the network Twitch. If Onno needs any further help connecting with patient communities or perfecting his product, Alex wants to provide it.

A second hackathon that Onno originally planned for last November is postponed for now. But he hasn’t forgotten the hackathon’s sense of promise. If he succeeds with RDMD, he will prove that patients with rare diseases can pool their data and provoke researchers to follow new paths. He will prove that patients are more than passive recipients of treatment; they are actors.

“For us,” says Alex, “meeting Onno is a new source of hope.”


Neo.life will be following Onno Faber’s story as it unfolds.

Read more in this series: