AM Buffalo


Mark Melancon

Raising Awareness of Rare Disease
Posted at 2:23 PM, Dec 18, 2017

The birth of a child is one of the happiest moments in a parent’s life and the same couldn’t be truer for San Francisco Giants pitcher Mark Melancon. But that joy can quickly turn to fear and angst when diagnosed with a rare brain-threatening disorder.


Immediately after birth, all babies in the U.S. undergo routine newborn screening to check for serious health conditions. Among diseases screened for is the rare genetic disorder phenylketonuria (PKU). In fact, according to the National Institute of Child Health and Human Development (NICHD), PKU was the first condition for which a screening test was developed and the first condition for which widespread newborn testing was implemented in the 1960s.