The little Pennsylvania girl who inspired improved newborn screenings for a rare regenerative disorder has passed away, MyFoxPhilly.com reported.
Hannah Ginion, who was 1, had Krabbe disease, a condition that impacts about 1 in 100,000 individuals in the United States. Prior to her diagnosis, Hannah’s home state didn’t require doctors to test babies for the enzyme deficiency, but Pennsylvania has since instated “Hannah’s Law,” which adds the disease to routine newborn screenings. According to the Centers for Disease Control and Prevention (CDC), New York state and Illinois also require doctors to screen newborns for Krabbe disease.
While there is no cure for the disorder, an umbilical cord blood transplant can act as treatment if it’s caught in time, according to My Fox Philly.
According to the National Institutes of Health (NIH), Krabbe disease impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Initial symptoms include irritability, muscle weakness, fever without signs of infection, and slowed mental and physical development. The condition eventually causes muscles to weaken, and it impairs infants’ ability to move, chew, swallow and breathe. Vision loss and seizures may also occur.
Krabbe disease commonly appears in individuals before age 1, according to the NIH.
Hannah’s mother, Vicki Pizzulo, told Fox 29 in March that her daughter had been born a healthy, 8-pound, 11-ounce little girl on Jan. 18, 2013.
"We were just so blessed,” Pizzulo said. “And she was perfect. Four months later, she turned into a different baby.”
Pizzulo and her husband said they’d never heard of a screening for Krabbe disease, and that they were shocked to learn a treatment existed. By the time Hannah was diagnosed, doctors said it was too late.
After her daughter was diagnosed, Pizzulo created the “Hope for Hannah” Facebook page to help others follow Hannah’s condition and raise awareness about Krabbe disease. Within months, over 24,000 people began following her story online, My Fox Philly reported. Hannah’s parents went a step further and pushed to make newborn testing for Krabbe mandatory.
"So many families are struggling, and they don't have to struggle when there are treatments out there,” Pizzulo said.