The push for more widespread screening for once little-known diseases is largely the result of impassioned campaigns led by parents of children affected by these conditions. Among the most notable advocates is former Buffalo Bills quarterback Jim Kelly, whose son died of complications from Krabbe disease, a rare genetic disorder of the nervous system. In 2006, Kelly successfully lobbied the New York State Department of Health for the inclusion of Krabbe disease in its mandatory newborn screening program. Since then Missouri and New Mexico have passed legislation to screen for a broader array of LSDs.
Similarly, in Illinois, seven LSDs have been mandated to the newborn screening program due to the efforts of the Evanosky Foundation, formed by parents of three children diagnosed with metachromatic leukodystrophy (MLD).
Ross says that while such stories are heartbreaking, this trend is worrisome because arguments from parent advocacy groups tend to be based on anecdotal experience rather than scientific, peer-reviewed evidence and they represent only one side of the coin.
"There are many parents whose voices are not being heard: parents who have experienced the distress of a false positive or who have children identified with conditions that may not present until adulthood, if ever," Ross said. "There are also parent advocacy groups around the country worried that their children's blood spots are being used for research without their permission, even without their awareness."
Another concern for ethicists is the funding advocacy groups often receive from pharmaceutical companies that have a vested interest in the promotion of treatments for the disorders the group represents. Studies have confirmed that many of these groups fail to disclose conflicts of interest on their websites, promotional brochures and lobbying ac
|Contact: Tiffani Washington|
University of Chicago Medical Center