About Nick 

Nicholas Rugari was born in 1986, second child of the Rugari family.  Nick appeared seemingly normal at birth, however within his first month of life, had symptoms of Krabbe disease.  Those early signs of the disease were colic, swallowing challenges, vomiting, and low muscle tone. However, the symptoms were misdiagnosed as “normal development” of a newborn.  

​

As the months went on, the disease progressed in Nick’s little body leading to the necessity of a feeding tube, hypertonia, epileptic seizures, and then hypotonia (floppy baby). Nicholas was finally diagnosed at seven months of age with Infantile Krabbe disease after months of seeking a diagnosis with many specialists, hospital stays and medical interventions.  The disease progression throughout the central and peripheral nervous system was rapid and Nick succumbed to death in 1987, at just a year and three days old.  

​

Krabbe disease is a genetic disorder of which both parents carry the recessive gene.  Each pregnancy between the parents has a one in four chance of having a child affected by Krabbe disease, aka Globoid Cell Leukodystrophy.