BETHESDA, Md. (Ivanhoe Newswire) - 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.
They are medical mysteries.
"I just kept getting sick and doctors kept saying we have no idea what is wrong with you," Mandy Young told Ivanhoe.
"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 Young'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," Kevin Alessi, Cody's dad, explained to Ivanhoe.
That is where these disease detectives come in.
"None of the consultants who have seen him have seen anything quite like this," Dr. William Gahl, Clinical Director at the National Human Genome Research Institute and Director at NIH Undiagnosed Diseases Program, told Ivanhoe.
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," Dr. 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," Dr. 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 Young 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.
RESEARCH SUMMARY
UNDIAGNOSED DISEASES PROGRAM: Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program pursues two goals:
- To provide answers to patients with mysterious conditions that have long eluded diagnosis
- To advance medical knowledge about rare and common diseases
The UDP was started in 2008 as a federal research project to learn more about what causes illness and how to treat it. About 40 percent of those who apply to the program are children.
A longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that are referred to this program, a very limited number will be invited to proceed in the study following careful application review by the program's medical team. Those add up to between 50 and 100 cases a year. In general, it takes 8-12 weeks for the UDP to evaluate an application, and the waiting list for admission is 2-6 months. (Source: NIH)
WHAT IS A RARE DISEASE? A rare disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States. (Source: NIH)
IN NEED OF DIAGNOSIS: A nonprofit known as In Need of Diagnosis also helps undiagnosed patients find doctors and resources while providing support. They receive letters from around the world. They also work to increase the timeliness and accuracy of diagnosis. INOD does not diagnose, but it is sometimes possible to find unexplored options that could lead to help. (Source: inod.org)
FOR MORE INFORMATION, CONTACT:
NIH Undiagnosed Diseases Program
1-866-444-8806
