A Worthwhile Investment: Universal Newborn Screening

Ali Chaudhry, Staff Writer

Hunter Kelly was born on Valentine’s Day, February 14, 1997, blessed to share his birthday with his proud father, Jim Kelly, a member of the Pro Football Hall-of-Fame and a former quarterback for the Buffalo Bills.1 After passing all of his newborn tests with flying colors, the healthy boy went home in loving arms.2

But the diagnosis failed to screen the newborn for all treatable diseases.  Within his first month of life, Hunter began showing symptoms of discomfort which would only later compound into episodes of irritability and bouts of screaming and stiffening of the arms and legs.3 At first, the family’s pediatrician diagnosed Hunter with colic.4 All efforts to ease the ailment, however, failed.  It became apparent that Hunter was failing to achieve essential developmental milestones.  As he turned four months old, Hunter was having trouble swallowing and was suffering mild seizures.5 Soon, the news became even more devastating.

At four months old, Hunter was diagnosed with Krabbe Leukodystrophy (also called Krabbe Disease),6 an inherited nervous system disease, which is caused by a genetic deficiency that one in 125 people in the United States carries.7 At the time of Hunter’s birth, New York did not screen for this disease in newborn babies.8 It is a treatable disease; but when left untreated, it is typically fatal before age two.9 After eight years of pain, a dozen bouts of pneumonia, and years of physical therapy, Hunter lost his battle.10 One singular, simple finger prick and blood test could have saved Hunter from this fate.11 Continue reading “A Worthwhile Investment: Universal Newborn Screening”