Vanderbilt Opens Center For Undiagnosed Diseases

Posted at 10:34 PM, Mar 15, 2016
and last updated 2016-03-15 23:43:38-04

Vanderbilt has become one of just seven hospitals across the country participating in the Undiagnosed Diseases Network, specializing in the rare and undiagnosed problems millions of Americans face.

September 14, 2010 is a day Gallatin resident Judith Doss will never forget.

"I woke up and I wasn't able to hear," she said.

She had gone deaf overnight. The world had suddenly gone silent. Judith was only 32 at the time.

When she went to the doctor she didn't find answers.

"They were telling me it was basically all in my head, I was having a nervous breakdown and I really could hear and I was like 'I really cant,'" she recalled.

Her condition continued to worsen with double vision, she lost her sense of balance and eventually all feeling from the knees down. She was confined to a wheelchair and a sudden illness sent her to the hospital in critical care for more than a month.

"It was very scary, it was very scary," she said, "and then to wake up and you've got all these people and tubes down your throat and you're like what is this about and no one could explain anything to you cause they didn't know either."

Vanderbilt is now one of just seven hospitals across the country participating in the Undiagnosed Diseases Network. Judith was one of the first patients since the Nashville location began accepting applications in September.

Dr. John Atlas Phillips III is a professor of pediatrics and director of the Division of Medical Genetics and Genomic Medicine. Dr. John Newman is a professor of pulmonary medicine and a critical care doctor. And Dr. Rizwan Hamid is an associate professor of pediatrics and a geneticist. The three of them make up the local team of investigators who take care of Judith and other patients through Vanderbilt.

"Frequently they'll (the patients) get a different diagnosis at each place so they come with not only hope but frustration," said Dr. Newman.

The Undiagnosed Diseases Network was assembled by the National Institute of Health and is offered to patients free of charge through grant money. The doctors involved say the network's strength is through collaboration.

"All the information that we collect on the hundreds and hundreds of patients we have at the seven centers around the country can be analyzed together," Dr. Newman said.

In Judith's case a doctor at another location came up with a solution during a video conference.

"I showed her information and someone said 'you know one time I saw a patient or heard of a patient who had Riboflavin deficiency,'" Dr. Phillips recalled.

The deficiency is when the body cannot absorb B-2 and can lead to nerve damage. But it calls for a fix almost too easy to believe: doses of drugstore Riboflavin that cost about $10 a week. Because the database showed almost no downsides to trying, Judith began taking Riboflavin at the recommended dose.

"In about two or three months she noticed sensation was returning (to her legs)," Dr. Phillips said.

Now Judith's body is very slowly going back to normal. She's able to wiggle her toes and is walking much faster with her walker.

"Is your arm strength improving too?" asked nurse practitioner Amy Robertson during Judith's last time at the hospital, "Oh yea I'm like super strong in my arms now!" Judith said.

Some might compare the doctors, who are known as undiagnosed diseases investigators, to a real-life Dr. House. But they say there's one problem.

"I didn't like House," laughed Dr. Newman, "he was too mean."

But to their patients they're the ones who give them second chances to enjoy things many of us take for granted.

"I get to hear my grand babies (now) and that's a big deal," Judith said with a smile.

Vanderbilt is currently treating 16 patients including many from out-of-state in the program. There are 50 applications waiting for approval. To learn how to apply for the Undiagnosed Diseases Network, click here.

The doctors say most cases are not quick or easy to diagnose. With genetic disorders, which comprise a large part of the rare diseases they treat, there's a long process of isolating and testing the issue before it can be confirmed and a treatment can be prescribed.
But they hope the database the network creates will make the process faster for doctors around the world to diagnose rare diseases in the future.