Posted by Pamela Todd | 1:21 pm on Tuesday December 03, 2013 |
Heather Long believes that far more cases would be diagnosed if there was a better system of communication in place
Most rare disease patients spend a good portion of their lives coping with a condition that is either undiagnosed or misdiagnosed. Some of them die of a disease that has yet to be named. Heather Long’s son, Cal, was one of them. After years of searching for answers, she lost her son at the age of 5 to a disease that had never been diagnosed. Since then, she has made it her life’s work to help others caught in this heartbreaking situation.
In 2008, Heather Long founded an organization called U. R. Our Hope, with Mary Elizabeth Parker, PT, PhD, PCS, NCS, a healthcare professional and professor at Texas State University. It is 1 of the few organizations that support undiagnosed patients. In Need of Diagnosis and Syndromes Without a Name also help undiagnosed patients, but U.R. Our Hope is the only 1 that supports both children and adults. Read More
Posted by Eileen O'Brien | 5:36 pm on Thursday September 06, 2012 |
the Undiagnosed Diseases Program has enabled the discovery of several new diseases and disease mechanisms
As difficult as it is to have a rare disease, not having a diagnosis is even worse. We’ve blogged before about the fascinating work of the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH), whose goal is to provide answers to patients with mysterious conditions that have long eluded diagnosis and to advance medical knowledge about both rare and common diseases.
A clinic of last resort
A long-term medical issue that has eluded diagnosis by physicians is considered undiagnosed, and thousands of desperate patients have applied to the UDP. Of the applicants to the program, only a very small number are invited to proceed. A CBS news piece shares the moving stories of four people in the program. The UDP’s director, William Gahl, MD, PhD, notes that he reviews every application and talks about how difficult it is to decide who to accept.
Last year, the UDP stopped accepting patient applications in order to catch up with a backlog, but they are now evaluating new cases. The 4-year-old program has seen about 500 patients and has succeeded in making a full diagnosis of a genetic disease for about 10% of patients and a partial diagnosis for about 30%. According to this study, the Undiagnosed Diseases Program has enabled the discovery of several new diseases and disease mechanisms.
Posted by Caryn Steinman | 3:52 pm on Thursday November 10, 2011 |
The UDP has the daunting task of providing answers and diagnoses to patients with medical mysteries that have long gone unsolved
After its first two years of work, the Undiagnosed Diseases Program (UDP) of the National Institutes of Health (NIH) released a report highlighting its results: 37 cases received a diagnosis, and 2 new diseases were discovered.
The UDP has the daunting task of providing answers and diagnoses to patients with medical mysteries that have long gone unsolved. Clinical researchers at the UDP take advantage of the expertise of their NIH colleagues in numerous medical specialties to collaborate in finding answers for these desperate patients. And in addition to helping individuals, they also work to advance the field of medicine with knowledge about both rare and more common conditions.
The UDP called for applications back in May 2008, received 1,191 cases over time, and accepted 326 patients into the program. Each application requires a summary letter from a referring healthcare provider and complete medical records. Unfortunately, due to the overwhelming number of applications, the program currently has a backlog and since July 2011 has suspended acceptance of new applications. These numbers indicate the serious need for this program and highlight the thousands of people who are struggling to obtain a diagnosis. Working in rare diseases, we often hear stories from patients about their struggle to find a diagnosis – frequently taking years. Here’s one example from a Siren colleague: The Journey to Diagnosis Is Often Bumpy.