Some spend their whole lives unsure of what disease they’re suffering from. For them, a new network of health centers across the country is hoping to give names to their conditions.
On a sunny fall afternoon, 14-year-old Maggie Hall is helping feed the family’s pet pigs and billy goats. The family lives on a farm in Cookeville, Tenn.
“The pig with the pink feet is Bentley,” she explains. “The one that is solid black, the big one, is Mr. Wiggles.”
Really, though, her dad Mike is doing most of the work. “The kids swear up and down they’ll take care of them and feed them everyday, and that lasts for two or three days…maybe.”
“I feed the cat!” says Maggie, indignantly.
Maggie is, in many ways, a standard teenager. She likes bickering with her dad and baking Christmas cookies with her mom. But one evening, about five years ago, when Maggie was 8, her parents noticed some changes that didn’t seem normal.
“We were just throwing the ball back and forth, and I noticed Maggie was having a lot of difficulty catching it,” Mike says. “A little bit later that night, we were playing a game of monopoly, and she couldn’t find her game piece on the board.”
It turned out, Maggie was starting to go blind.
They took her to a local doctor, who didn’t understand what was happening. Then they took her to doctors at Vanderbilt, Emory and Mayo Clinic. She was given test after test, but the doctors couldn’t figure it out—except, they hypothesized, that it was probably genetic.
About a year and a half ago, it got worse. This time it was Maggie’s muscles. At one point, she could barely do physical activity.
“We went on a trip out of town and had to bring her back in a wheelchair,” her dad remembers.
Doctors kept ruling out diseases. Their guesses were getting more alarming—multiple sclerosis, muscular dystrophy, and other scary dignoses.
“We’d almost [be] afraid of a diagnosis,” Mike says. “We’re so afraid of bad news that it was almost like, ‘OK, they didn’t find anything this time? Good.'”
Unnamed and undiscovered
Maggie Hall is among a small group of people who have a genetic disease so rare or unusual that doctors can’t diagnose them.
This means, a patient comes in with problems—sometimes several serious, seemingly unrelated problems—but no one can figure out which gene is causing it. It can be frustrating, if not downright scary, for someone whose health is at stake.
But a new network of doctors around the country, overseen by the National Institutes of Health, has made it their task to help these patients, in an attempt to either name their rare genetic disorder or discover a completely new one.
The patients have gone through a “diagnostic odyssey” to get to that point, says John Newman, one of the lead doctors at the network’s site at Vanderbilt University Medical Center.
“They go from doctor to doctor and medical center to medical center, and sometimes the very best medical centers,” he says. “If it’s a disease that no one has written about or knows, they get a different opinion at each place.”
Vanderbilt, in Nashville, is one of six new sites in the $120 million program called the Undiagnosed Diseases Network. Over the next four years, doctors at teaching hospitals in Boston, Los Angeles, Stanford, Houston, Nashville and Durham, North Carolina will collaborate with the NIH to see hundreds of patients and share data and testing methods.
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The process starts with something that seems mundane: paperwork. Patients send in inches, or even sometimes feet, of paper, including medical records, x-rays and biopsies.
“Sometimes just by putting together all of the medical records from a patient from all of the different places that they have been seen, and really digging through all of the details, you can find information that might be able to help lead to a diagnosis,” says Anastasia Wise, a national coordinator of the network.
Patients also get an intensive one-week evaluation, where they’re seen by different specialists who can discuss what they’re finding.
19,000 Genes Left
Then comes the more experimental stuff, like detailed genome sequencing that most doctors don’t have access to. If a genetic anomaly is found, another lab can model it on real living things—specifically, zebra fish and fruit flies—to see if it causes the same symptoms. (Yes, zebra fish may help diagnose some patients.)
“It’s really taking cutting-edge research techniques and applying them to these patients, [who] have typically received all of the standard clinical testing that’s available by the time they come to the undiagnosed diseases network,” Wise says.
Still, success is far from guaranteed. The NIH started working on undiagnosed diseases back in 2008, before it expanded into this new multi-hospital network. In its first two years, it saw 160 patients. About a quarter were diagnosed, and it only found two completely new genetic diseases. The rest were just very rare.
But John Phillips, another lead doctor at Vanderbilt’s new clinical site, says he expects to find more now that doctors and labs across the country can collaborate,
“We have perhaps 23,000 genes or so, but we only now know diseases that go with 4,000 of them,” he says. “So logic would say there are 19,000 genes that could cause a disease but no one has ever proven it.”
And often, he says, that can lead to finding treatment for the disease or ways to manage the symptoms.
Maggie Hall Syndrome
That’s one reason 14-year-old Maggie Hall, who is one of the first patients accepted to the Vanderbilt site, wants to know what she has.
“It would be good,” she says.
Maggie has been doing better recently. She can walk well again, and she’s gaining back some muscle weight. Her dad Mike says they’re cautiously optimistic.
“We’ve gotten to the point now where we say, eh, they’re probably not going to find anything,” he shrugs. “She might just have Maggie Hall syndrome.”
But he too is hoping for some new information that will help Maggie manage her disease…whatever it’s called. Having her stay healthy, he says, is more important than having a name.
Emily Siner is a reporter for public radio station WPLN in Nashville, Tennessee.