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 until it has caused brain damage or death.  But her home state of Louisiana began testing newborns for citrullinemia on November 1, 2004 - the day her blood sample arrived at the lab.  She spent 36 hours in intensive care, but the disease was spotted in time.  "It's scary to think how close it was," says Macey's mother Laney.

An estimated 1,000 babies would be saved eachyear if he recent recommendations of a government advisory panel and the March of Dimes are heeded.  Both advised that all states screen newborns for 29 treatable genetic diseases.  The aim is to standardize a mismash of state guidelines, says Nancy S. Green, MD, March of Dimes' medical director.

Thirteen states test for all 29 diseases now, while some screen for fewer than 5; others, like Louisiana, are gradually phasing them in.  If you're pregnant, check your state's standards at www.genes-r-us.uth.scsa.edu.  If your state doesn't test for all disorders, Green recommends having the other tests performed at a private lab.  The full battery costs less than $100.00.  Ask your doctor for help finding a lab, or contact Baylor Medical Center's Institute of Metabolic Disease (800-422-9567) and ask about the Supplemental Newborn Screening Project.  You'll receive a test kit in the mail. - ES

A Family Faces A Rare Condition - Hartford Courant 1/22/2007
Screening Them At Birth - Malaysia Star 10/02/2006
Liver Transplant Saves 10 Day Old Baby - Associated Press 04/22/2006
New Studies Give Hope for Rare Disease - ABC News 5/7/2006
Expansive Effort Is Begun to Study Rare Diseases - Wall Street Journal 05/16/2006
Urea Cycle Disorders Consortium featured on Good Morning America - 05/04/2006
Little Miracle Given Back Full of Life - Daily American Republic 11/20/01 
Life Saving Rule Change Pays off in Just Two Days - Times Picayune 11/22/2004
Family Counts its Blessings - Layfayette Daily Advertiser 11/30/2004
Your First Move?  Get Her Tested - Health Magazine April 2005
Missouri's Babies Will Receive Improved Health Screening - Associated Press 6/16/2005
How Newborn Screening Tests Could Change - Wichita Eagle 7/05/2005
State Newborn Screening Programs Advance, but Most Infants Still Not Fully Covered - Medical News Today 7/12/2005
Babies Born In California Tested For Genetic Disorders - ABC News 7/14/2005
Expanding Newborn Screening - Children's Health Channel 8/1/2005
Help Isn't Just for Kids at Children's - Washington Post 12/28/2005