[Watch on YouTube]
What in the world is wrong with Dr. Katia Moritz?
When she was 43, Moritz felt like she had life all figured out. Always a high-energy extrovert, she would begin her workdays as a clinical psychologist treating severely ill patients at 7:15 a.m., and get home in time to be with her three young children after school.
There was no time for slacking in a life so full, so when she was scheduled for a minor diagnostic procedure that involved inserting a tube down her throat to look into her stomach, she figured she’d recover from the sedation and come right back to work that afternoon.
But afterward, she felt so sick she went to bed and slept for three days. “I felt like I was poisoned,” she recalls. “It felt like the worst flu ever. I had a low grade fever, my body hurt, everything hurt. After a few days, I improved, but I never felt well. And then it became an episodic illness — a few days later I’d get it again, and a few weeks later I’d get it again.”
Moritz, now 48, has never been the same. For the last five years, she has seen dozens of doctors, trekked to leading medical centers around the country in search of a diagnosis and cure, to no avail. Her fevers come and go, and other symptoms; sometimes it’s hard to swallow, even walk.
If this were the television show “House,” or the popular New York Times column “Think Like A Doctor,” her story would have a neat ending, a solution to her mystery. But as Moritz has learned in her exhaustive travels, in real life, a great many people — millions of them, she estimates — are clearly very sick but never get the answer that could help them get well. Call them “the undiagnosed.”
Now, she’s working on a documentary on their plight (see the trailer above) and — in a lucky convergence — she’s combining forces with the bright minds at the cutting edge of genomic research to seek answers.
Five undiagnosed patients from the documentary are the focus of a new contest run by Boston Children’s Hospital, titled “CLARITY Undiagnosed.” Aiming to advance the field of genomic medicine — using a patient’s gene information in the clinic — it offers a $25,000 prize to the research team that best solves the patients’ diagnostic mysteries.
In an unusual twist for such an exercise in competitive crowd-sourcing, the teams may also appear in the documentary that Moritz is creating. Titled simply “Undiagnosed,” It is still filming and thus far chronicles the patients’ struggles but has no happy endings. (The medical detectives can also opt out if they’re camera-shy.)
Up to 30 competing teams in the CLARITY contest will be given each patient’s full medical record — no small file, given the medical odysseys they have endured. The contestants will also be given extensive data on the patients’ genes.
Teams have until June 25 to apply, says Dr. Isaac Kohane, chair of Harvard Medical School’s Department of Biomedical Informatics, and they will then have two months to work. Results will be announced in November.
“I would say that, based on the performance from the Undiagnosed Disease Program at the National Institutes of Health, the probability that we’re going to find something in any of these individuals is about 50 percent,” Kohane says.
The contest aims to advance “the diagnostic art,” he says, in the big-data era of the human genome.
“We bandy about numbers these days — gigabytes come so easily to our lips,” he says. “But evolutionarily speaking, the old brain in our cranium really has no idea what 3 billion looks like. So when we start having literally hundreds of mutations — each genome is larded with thousands of mutations that are personal to only you — you have to appeal to a lot of ancillary data and knowledge to come to a conclusion. Because otherwise, an overly trigger-happy interpretation of our genomes is going to bring us back to incidental findings — and we’ll start removing body parts incautiously.”
The contest is also looking for strong performance in communicating potentially tricky results to non-expert doctors and patients.
This is the second such contest that the Boston Children’s Hospital team has run. The first, back in 2012, solicited diagnoses for three families with children who had serious illnesses, and yielded diagnoses for two out of the three. (See the Children’s video below.)[Watch on YouTube]
One noteworthy element of that contest, Kohane says: Some of the winning teams came from hospitals where the children had previously been seen but not diagnosed.
“That tells me that the usual clinical visit is just not the same thing as a team of people looking at this family as a competitive puzzle,” he says.
Kohane and Moritz had been traveling along two very different paths. She had been criss-crossing the country seeking a diagnosis and interviews with experts on the problems of undiagnosed patients and how the current medical system fails them. He represented what that system is doing to try to improve: He is the coordinator of a $9 million NIH project called the Undiagnosed Diseases Network, which aims to use genomics to diagnose rare and new diseases.
When Moritz contacted Kohane last year, he offered to try to help the patients in the film, but he tried to manage her expectations, he says, warning her that the contest may not bring the results she wants.
Moritz said she understood, he recalls — but that it was tremendously meaningful that he was even willing to try. Even for patients convinced they would surely die before medical science would ever find the answers they needed.
Readers, please stay tuned. There will be no media access to the families involved during the contest, but we will cover the results in November. The contest website is here.