On hand at the program’s announcement were (from l) Dr. William Gahl, clinical director at NHGRI; CC director Dr. John Gallin; Amanda Young, a patient seen at the CC for 13 years before her disease was diagnosed; and Dr. Stephen Groft, director of ORD.
Patients with symptoms that the medical profession
has been unable to understand and treat have a new place at NIH where they can turn for help and hope in finding a diagnosis.
That’s because on May 19, the NIH Office of the Director, Office of Rare Diseases, the Clinical Center
and the National Human Genome Research Institute launched the Undiagnosed Diseases Program.
A trans-NIH initiative, it will focus on the most puzzling medical cases referred to the CC by physicians across the nation.
According to the Genetic and Rare Diseases Information Center, which is funded by NHGRI and ORD, 6.6 percent of inquiries during the past 3 years were related to undiagnosed diseases.
A 1989 report of the National Commission on Orphan Diseases found that that although about 50 percent of patients in the U.S. received a diagnosis in less than a year, 31 percent waited
between 1 and 5 years to obtain a diagnosis and about 15 percent waited more than 5 years for a diagnosis.
“A small number of patients suffer from symptoms
that do not correspond to known conditions,
making their care and treatment extraordinarily
difficult,” said NIH director Dr. Elias Zerhouni. “However, the history of biomedical
research has taught us that careful study of baffling cases can provide new insights into the mechanisms of disease—both rare and common.
The goal of NIH’s Undiagnosed Diseases Program is two-pronged: to improve disease management for individual patients and to advance medical knowledge in general.”
The new program is the culmination of efforts by Dr. William Gahl, clinical director at NHGRI; CC director Dr. John Gallin; and Dr. Stephen Groft, director of ORD. It is ready to accept patients in July.
To kick off the program, NIH held telebriefings
with representatives of almost 100 patient advocacy groups, which often serve as a source of information and support for people struggling
with mysterious ailments, and more than 25 reporters. They were joined by a speaker from the patient community, Amanda Young, a patient of Gallin’s. “This is the most exciting news that anyone with an undiagnosed disease
could hear: Someone is going to try to help you,” Young said.
Young, 26, of Conyers, Ga., lived her early life as a mystery. Seeking an explanation for having
contracted spinal meningitis, gas gangrene, salmonella poisoning of the sinuses, an abdominal abscess and more, she finally found an answer at the Clinical Center.
Years of intensive testing led to a diagnosis of an IRAK-4 deficiency. An extremely
rare genetic mutation affects her body’s ability to create a protein needed to fight bacteria, leaving her vulnerable to life-threatening infections. The oldest of only about 20 patients known to have the deficiency, Young seems to have put the worst behind her.
“The Clinical Center exists for people like Young and her parents,” said Gallin. “Our patients are partners in medical discovery. They call this the House of Hope. Our commitment to them is to marshal medical and scientific expertise, resources and care in the search for answers. In a research setting, one patient’s answers often generate new avenues for medical advancements that ultimately help others.”
“We hope to build upon our strong working relationships with many patient advocacy groups,” added Groft. “These organizations provide a crucial link in our nation’s efforts to improve human health through biomedical research. We hope that this new partnership of NIH researchers, advocacy groups and patients will give hope for many Americans who now face troubling medical symptoms with no clear diagnosis.”
To evaluate each patient enrolled in the new program, more than 25 NIH senior attending physicians will dedicate their expertise, which includes specialties such as rheumatology, immunology, oncology, mental health, nephrology, hematology, ophthalmology,
neurology, laboratory medicine, pain and palliative care, bone disorders, endocrinology, dermatology, primary immunodeficiency, dentistry, genetics, pathology,
pulmonology, cardiology, internal medicine, pediatrics and hepatology.
Gahl, an expert on rare genetic diseases, will direct the new program. “We have developed a stringent referral process to ensure this program deals with those cases
that have truly confounded medical experts,” he said. “We will be very selective when it comes to patient eligibility. Our focus is strictly on conditions that have not been diagnosed.”
To be considered, a patient must be referred by a physician and provide all medical records and diagnostic test results requested by NIH. Patients who meet the program’s
criteria—as many as 100 each year—will then be asked to undergo additional
evaluation during a visit to the CC that may take up to a week.
Two nurse practitioners will manage patient recruitment and logistics for the new program, which will leverage existing intramural facilities and staff already at the CC, NHGRI and ORD. Funding for the program includes $280,000 per year from ORD.
For more information about the Undiagnosed Diseases Program, visit http://rarediseases.info.nih.gov/Undiagnosed. Physicians and patients with specific inquiries may call the CC’s Patient Recruitment Call Center at 1-866-444-8806. Staff there received nearly 300 calls from potential participants and referring physicians during the program’s first 2 weeks.—