Certain testing for newborns can detect rare, but serious diseases in babies. They have to be treated early, but once they are, a child has a better chance at avoiding lifelong health problems, even death in serious cases. Newborns have been screened for decades, but those screenings are going a step further to save more lives. A change to North Carolina law requires testing for more diseases.
Channel 9’s Blaine Tolison spoke with the mother and daughter duo who are advocating for the change. Haley Hayes, 12, lives with a rare disorder called Pompe Disease, which is one of the three rare diseases babies in North Carolina will soon be routinely tested for. Pompe Disease is a rare, inherited disease that causes progressive muscle weakness. Many infants that are diagnosed do not live past a year old. Haley’s parents and doctors discovered the disease when she was 6-months-old.
“It was early, but not early enough. Within months, she would have passed away if we hadn’t gotten that diagnosis,” Haley’s mom Krystal Hayes said.
An earlier diagnosis and treatment could have prevented a heart defect and could have given Haley full use of her legs.
Haley’s story has helped inspire change. This year, North Carolina lawmakers added Pompe disease, along with “X-ALD” and “MPS-1” to newborn screening.
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