Imagine living with a rare disease, or one that had no name. That's the case for an estimated 30 million Americans.
Mandy Young is one of them. "Doctors kept saying we have no idea what is wrong with you."
So is Cody Alessi. "They looked at me and said 'how you're functioning, I don't know.'"
Mandy Young's body begain turning against her at just nine months old. She'd fall gravely ill, but show no symptoms for doctors to follow.
By eight, she'd lost her leg.
"I had spinal meningitis 3 times. I had a stroke that paralyzed the left side of my body and I had to learn to walk and talk again," Mandy says.
Cody Alessi seemed fine until he had a seizure on a bus trip home with his college baseball team. Doctors thoguth he had neurocysticercosis - parasites in the brain. Treatment didn't help. Cody's father was haunted by all-too-common words from Cody's doctors: 'we don't have an answer.'
Cody has come to the National Institutes of Health Undiagnosed Diseased program. Sounding something like the fictional Dr. House of recent television fame, these medical sleuths run test after test, digging for a diagnosis where others have failed to find one.
The team has already ruled out a genetic basis for Cody's disease. Next up? A spinal tap. Disease detectives look for clues in his spinal fluid. They take 21 cc's -- that's four full vials. Only about 10 percent of patients leave the UDP with a diagnosis.
This time, Cody is 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
Says Mandy, "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."
A name the NIH still hopes to uncover for Cody.
Below is the research summary for this story.
DISEASE DETECTIVES: CLINIC OF LAST RESORT
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% 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)
AMANDA'S DISEASE: IRAK-4 deficiency is an inherited disorder of the immune system. Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood, the membrane covering the brain and spinal cord (meningitis), or the joints (arthritis). In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Many people with IRAK-4 deficiency do not develop a high fever in response to these bacterial infections, even if the infection is severe. IRAK-4 deficiency is a very rare condition, although the exact prevalence is unknown, at least 49 individuals with this condition have been described in the scientific literature. (Source: ghr.nlm.nih.gov)
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