FLORIDA - 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). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. 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)