Kathryn Karwowski’s son, Alex, was healthy at birth. Before his first birthday, that changed.
At 18 months old, Alex was diagnosed with cystic fibrosis, an incurable, life-shortening genetic disease that occurs in one of every 3,500 U.S. births.
“We were devastated,” says Karwowski, a Glen Ellyn resident.
Infants born with cystic fibrosis may be spared delays in diagnosis under a proposal by Gov. Rod Blagojevich and the Illinois Department of Public Health. The measure, up for review, would require screening all Illinois infants for cystic fibrosis by July 2007. Proponents say this would reduce treatment costs and suffering.
“We can save people … a diagnosis delay and stress,” says Dr. Susanna McColley, director of the Children’s Memorial Hospital’s Cystic Fibrosis Center.
Cystic fibrosis causes the body to produce thick mucus that clogs the lungs and can lead to lung infections. It also inhibits nutrient absorption. Symptoms include frequent cough and pneumonia and abnormal bowel movements.
These symptoms overlap with other disorders, delaying diagnosis. More than 80 percent of patients are diagnosed by age 3, but about 10 percent are diagnosed at age 18 or older, according to the Maryland-based Cystic Fibrosis Foundation.
While the screening can diagnose children at a young age, McColley cautions that it is highly sensitive and can produce false positives. Parents who suspect their child has cystic fibrosis should visit a Cystic Fibrosis Foundation-accredited facility to increase the likelihood of reliable testing.
For more information, visit the Cystic Fibrosis Foundation Web site, www.cff.org/home, or contact the Cystic Fibrosis Center at Children’s Memorial Hospital, (773) 880-4382.
This is an updated version of a story that orginally ran in Chicago Parent.