Rare and Undiagnosed Diseases: Where Pediatricians Can Go for Reliable Information and Resources

Authors: Dale Halsey Lea, MPH, RN, CGC, FAAN, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH); Henrietta Hyatt-Knorr, MA, Office of Rare Diseases Research (ORDR), NIH; Janine Lewis, MS, CGC, Genetic and Rare Diseases Information Center (GARD), ICF International, William Feero, MD, PhD, NHGRI, NIH

One of your patients, a 6-month-old male, begins to show signs of developmental delay, curvature of the spine, failure to thrive and stool abnormalities. You make a referral to a genetics specialist, who diagnoses Bassen-Kornzweig syndrome, a rare inherited disease that prevents a person from fully absorbing dietary fats through the intestine. The parents have received genetic counseling, but still have questions. They need verification about how and why this happened, and whether there are other parents who have had children with this disease whom they can contact. Where do you look for reliable information to assist you in answering these questions?

Pediatricians are at the front lines of patient care. Families often assume that their pediatrician will be well versed in the latest genetic discoveries. Today, with incredible day-to-day time constraints and the availability of over 1,500 genetic tests for rare genetic conditions, this is a tall order. To help pediatricians and all health care professionals meet the challenge of providing timely and reliable information to patients and their families, the Office of Rare Diseases Research at the National Institutes of Health (NIH) recently launched a searchable Web site for its Genetic and Rare Diseases Information Center (GARD). The free site is located at: http://rarediseases.info.nih.gov/GARD. The Information Center is funded by the Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI). The Information Center has responded to more than 22,000 inquiries on 6,000 rare and/or genetic diseases since it was established in February 2002. Inquiries for information come from physicians, nurses and other health care professionals, as well from patients and/or their families who might have been directed to the site by their health care professional. The Web site includes a feature that enables users to quickly locate disease-specific information and resources, e.g., links to answers to previously asked questions that the information specialists have received about the specific disease.

Additionally providers and their patients can contact, free of charge, GARD's information specialists by e-mail, toll-free telephone and or an international access number (see sidebar for details) for questions in English or Spanish. Information specialists provide users with authoritative information drawn from public domain sources such as Web sites, brochures, medical literature and patient support organizations. While patients and their families often contact GARD seeking direct referrals to health care professionals, genetic counseling, or treatment or medical management suggestions, GARD cannot directly provide this type of information. GARD is in a working partnership with the health care community, always strongly recommending that patients contact their own health care providers about questions regarding their medical care. Usually patients requesting information by e-mail or phone receive a response within 4 to 7 business days. However, depending on the nature of the inquiry, the turnaround time for inquiries from health-care professionals is often much faster. An urgent request may receive a response within 24 hours or even immediately.

Do you have any children in your practice have eluded diagnosis despite your having referred the patient to every specialist you could think of? Such a situation can be frustrating for health care providers, patients, and families alike. To provide a resource for patients who represent medical mysteries, the NIH has recently initiated a new clinical research program for undiagnosed diseases. The Undiagnosed Diseases Program will focus on the most puzzling medical cases referred to the NIH Clinical Center hospital in Bethesda, Md. by physicians across the nation (See: NIH Launches Undiagnosed Diseases Program). NIH has enlisted the expertise of more than 25 of its senior attending physicians from a wide ranging variety of specialties to evaluate patients enrolled in the program. Patients being considered for the NIH program must be referred by a health care provider and must provide to NIH their medical records and diagnostic tests. The subset of patients who meet the program's entry criteria will be asked to undergo in person evaluation at the NIH Clinical Center hospital, which may take up to a week. For more information about the Undiagnosed Diseases Program go to: Undiagnosed Diseases Program (See sidebar for additional information).

As you care for children who have genetic, rare or undiagnosed diseases, you must have access to reliable sources of information about the diseases to share with other health care providers and your patients and their families. As of 2008, pediatricians and families now have, free-of-charge, two NIH-funded programs - The Genetic and Rare Diseases Information Center and the Undiagnosed Diseases Program - that can provide individualized support resources.

The Genetic and Rare Diseases Information Center is funded under an NIH contract to the ICF International, contract GS-23F-8182H. Dale Lea and Henrietta Hyatt-Knorr are NIH Co-project Officers, Janine Lewis is Director of the Information Center. Dr. Feero is the Special Advisor to the Director for Genomic Medicine at the National Human Genome Research Institute of the NIH.

Last Reviewed: February 27, 2012

Last updated: February 27, 2012