YOUR FIRST MOVE? GET HER TESTED Health Magazine - April 2005 If little Macey Smith has been born a day earlier, she probably wouldn't have survived. The infant has citrullinemia, a disorder affecting 1 in 70,000 children that makes ammonia accumulate in the blood. It is usually impossible to detect ...

A Family Faces A Rare Condition - Urea Cycle Disorder Makes A Child's Life A Daily Battle By JULIE SHAPIRO Courant Staff Writer January 22 2007 NEW BRITAIN -- Shortly after C.J. Farr's first birthday, an ambulance rushed him to Connecticut Children's Medical Center. No one knew exactly what was wron...

HOW NEWBORN SCREENING TESTS COULD CHANGE BY MARIE MCCULLOUGH Philadelphia Inquirer PHILADELPHIA - Editor's note: The Eagle recently carried a report about newborn screening tests. Wendy Nawn began crusading to expand newborn health screening after she saw what happened to her son Alex, who inherited...

OTHER CLINICAL TRIALS FOR UCD WHAT IS A CLINICAL TRIAL? In 2003, the National Institutes of Health (NIH) developed the Rare Diseases Clinical Research Network (RDCRN) in order to promote and fund research on rare diseases. Dr. Mark L. Batshaw of Childrens National Medical Center was awarded one of t...

FAMILY BENEFITS FROM NEW STATE TESTING THAT IS ALREADY SAVING LIVES The Lafayette Daily Advertiser; November 30, 2004 OPELOUSAS Laney and Shane Smith of Opelousas have a lot to be thankful for this holiday season. Their new daughter, Macey, is alive and well, thanks to a new state policy that allowe...