Kathryn Karwowski's son Alex was healthy at birth. But before his first birthday, that changed.
He had chronic diarrhea, and at 15 months, he stopped gaining weight. Trips to the pediatrician led to frustrating dead ends, as doctors mistakenly attributed Alex's symptoms to allergies.
Finally 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 such a delay in diagnosis under a new proposal by Gov. Rod Blagojevich and the Illinois Department of Public Health. The measure, which is up for review, would require screening all Illinois infants for cystic fibrosis by July 2007. The screening would mean diagnosis at birth, reducing treatment costs, misdiagnosis and the suffering of both infants and parents, proponents say.
"This is a wonderful opportunity to improve the health of infants," says Dr. Susanna McColley, director of Children's Memorial Hospital's Cystic Fibrosis Center.
Cystic fibrosis causes the body to produce abnormally thick mucus that clogs the lungs and becomes a breeding ground for potentially fatal lung infections. The mucus also affects digestion, making it difficult for the body to absorb nutrients.
These symptoms often overlap with other disorders, delaying diagnosis. More than 80 percent of patients are diagnosed by age 3, but about 10 percent of newly diagnosed patients are 18 years or older, according to the Cystic Fibrosis Foundation.
The measure, if it becomes law, would raise the newborn screening fee from $47 to $56 by next summer.
But McColley cautions that the newborn screening is highly sensitive and can produce false positives. Parents who suspect their child has cystic fibrosis should go to a facility accredited by the Cystic Fibrosis Foundation for testing; the accreditation increases the likelihood of accurate and reliable testing.
Now 2 years old, Alex's daily regimen of breathing treaments and enzymes before each meal has helped stabilize his condition.
"I found out that kids with CF [cystic fibrosis] could live normal lives with some extra steps," Karwowski says.
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.
Rebecca Cho, Medill News Service