Imagine living with a rare disease or one that had no name. That's the case for an estimated 30 million Americans. Now a highly specialized team is hoping to unlock the mysteries of rare diseases so they're better able to treat more common conditions. We went to the National Institutes of Health and took a look inside the undiagnosed diseases program.
They are medical mysteries.
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"I just kept getting sick and doctors kept saying we have no idea what is wrong with you," said Mandy Young.
"They looked at me and said 'how you're functioning, I don't know. How you're walking I don't know.' Cody Alessi said. Their jaws dropped when they saw me."
"Your body is further advanced than medicine and we have to wait for science to catch up to you," Mandy explained.
Mandy's body began turning against her at just nine months old. She'd get gravely ill, with no symptoms. By eight, she had lost her leg.
"I had spinal meningitis three times. I had a stroke that paralyzed the left side of my body and I had to learn to walk and talk again. I had so many seizures my doctor said I'd be a human vegetable," Mandy said.
Cody Alessi seemed fine until he had a seizure on a bus trip home with his college baseball team. An MRI uncovered abnormal lesions on his brain. Doctors thought he had Neurocysticercosis (parasites in the brain).
Normally patients have four or five lesions, Cody had six times that amount! Treatment did not help. One doctor even placed a shunt in Cody's brain in case one of the lesions burst. Cody's dad was haunted by these words.
"You're a medical mystery. We don't have an answer," said Kevin Alessi, Cody's dad.
That is where these disease detectives come in.
"None of the consultants who have seen him have seen anything quite like this," said Dr. William Gahl, Clinical Director at the National Human Genome Research Institute and Director at NIH Undiagnosed Diseases Program.
Cody went to the National Institutes of Health Undiagnosed Diseased Program. For five days medical sleuths ran tests, digging for a diagnosis where others have failed.
"So we're a little concerned that the lesions are growing some. We don't think that it's infectious right now," Gahl explained.
On day four Cody invited our cameras along for his stay.
"At the end of your stay here we tell you what we know, what we don't know and make a plan for the future," Gahl said.
The team already ruled out a genetic basis for Cody's disease. Next up was a spinal tap.
Disease detectives looked for clues in his spinal fluid. They took 21 cc's -that's four full vials. Only about 10 percent of patients leave the UDP with a diagnosis. Cody was not one of them. But Mandy is a success story. After 22 years of searching for answers, her medical mystery was the first solved by the NIH and what helped launch the undiagnosed diseases program. She has a genetic mutation known as Irak-4.
"There's not a treatment, there's not a cure for it, but just having a name for it, is like the biggest weight lifted off your shoulders just because you have a name," Mandy explained.
The NIH hasn't given up on finding a diagnosis for Cody. They're now plugging into their resources from around the country to decide what Cody's next steps should be. Each year they invite about 200 patients to the program. They're hoping as genetic testing gets better, they'll soon have a 50 percent success rate.