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CAH: An Incredibly Common yet Relatively Unknown Disorder
Research has shown that as many as one in 100 people are affected by Congenital Adrenal Hyperplasia (CAH) making it the most common genetic disorder identified to date. The devastating effects of CAH are found equally in men and women, but are highly prevalent in certain ethnicities, for example one in 27 Ashkenazi Jews, one in 40 Hispanics and one in 300 people of Italian descent. Despite this high prevalence, there is little research being done for a cure, public awareness of CAH remains low and there is substantial need for support programs and services for the existing CAH community. The CARES Foundation is dedicated to improving the lives of families and patients affected by CAH through pro-actively advancing research for a cure, educating the public and healthcare professionals about all forms of CAH, advocating for universal newborn screening, and providing support services and resources vital to the CAH community world-wide.
Working to Establish Comprehensive Care Centers (centers of excellence) for CAH
At present there is a significant disparity in the quality and comprehensiveness of care that patients affected by CAH receive. There are no centers in the United States recognized as specializing in the care of individuals with this disorder; much less provide collaboration between the different medical experts needed to care for a patient with CAH. Moreover, clinicians who are less experienced with CAH, or who serve a geographically isolated population, have no recognized ‘expert’- a person or a protocol -- to turn to for advice and consultation on the diagnosis and care of their patients with CAH. Adult patients are particularly underserved. While they may have received effective care during the childhood years, once they reach adulthood they often fall off the radar. Comprehensive Care Centers will provide access to specialists who will meet patient’s changing needs ensuring coordinated care from diagnosis throughout their lifetime. In addition, the Centers will provide a pool of research subjects that will be critical to our continued pursuit of a cure for CAH.
Emergency Medical Response for Adrenal Insufficiency
Over the past eight years, CARES Foundation has worked tirelessly to ensure that every baby in America has a chance at a healthy start through advocating for expanded newborn screening including testing for Congenital Adrenal Hyperplasia (CAH). As of 2008, every child in the United States is being screened for CAH at birth. These children are leading full, healthy lives but are always at risk of adrenal crisis which, if not treated with glucocorticoids in a timely manner, can result in death.
Current EMS protocols in most states do not address special medical needs much less adrenal insufficiencies nor do they allow emergency medical response personnel to treat individuals with medical id that says "adrenal insufficiency" on it, doctor's orders that detail medical treatment protocols for adrenal crisis, or properly labeled medications. As an organization dedicated to improving the lives of individuals affected by CAH, CARES Foundation supports the inclusion of injectable glucocorticoids (Solu-Cortef®) in EMS formularies as well as treatment for individuals with adrenal insufficiency in emergency response protocols across the country.
Newborn Screening Saves Lives
Newborn screening is the most common way infants affected by Classical Congenital Adrenal Hyperplasia (CAH) are first identified. The screening test for CAH is sensitive, simple and inexpensive. It involves taking one additional drop of blood from the heel of a newborn at birth, along with the other drops taken for the screens for other disorders. The blood is collected on filter paper and allowed to dry, then sent to a laboratory for testing. Infant females with CAH often come to medical attention because the disorder causes affected females to exhibit recognizable genital abnormalities and therefore receive prompt treatment for adrenal failure and salt-wasting. However, newborn males and females that, due to the extent of their genital abnormalities are miscast as males, show no other outward signs of the disorder and are sent home. Newborn screening allows for these children to be identified as possibly having CAH before they go into adrenal crisis and present for urgent medical attention at a time when they are beyond resuscitation. A second diagnostic test then is ordered and the diagnosis of CAH either confirmed or denied. As of July 2008 all 50 of the United States will be screening for CAH at birth yet only a handful of other countries do.
If you need additional information not available on this site, or would like to speak with a member of the CARES Foundation directly, please contact us at:
CARES Foundation, Inc.
2414 Morris Avenue, Suite 110
Union, NJ 07083
Phone: (908) 364-0272
Toll-free: (866) 227-3737
Fax: (908) 686-2019