50 Years of Newborn Screening Provides Hope

The Hunters Hope Foundation was established by former Buffalo Bills

quarterback and Pro Football Hall of Famer J im Kelly and his wife, J ill,
following the loss of their young son to Krabbe disease, a hereditary and
fatal neurological condition.

In a recent issue of Pediatrics, the official journal of the American Academy
of Pediatrics, J im Kelly tells his son Hunters story in a discussion about the
necessity of conducting medical screenings of newborns for deadly
inherited conditions. At the age of 4 months, Hunter was diagnosed with
Krabbe leukodystrophy, which affects the bodys peripheral and central
nervous systems. While the disease claimed Hunters life at age 8, the
Kellys continue to work for the well-being of all children in the fight against
a variety of diseases. The foundation has now touched the lives of
numerous patients and families who are coping with inherited conditions.

The journal article details the success of newborn screenings, over the past
50 years, in identifying serious medical conditions early. Family advocates,
such as the Kellys, have become a vital force in moving states and
hospitals toward providing NBS as a routine procedure.

For example, doctors now regularly screen for phenylketonuria, or PKU, a
potentially deadly metabolic disease. Early diagnosis and treatment of PKU
and other conditions now improves the chances of more than 12,000
newborns each year. A simple heel prick can reveal information that will
help families to make the best possible decisions for their children.