North Carolina to require more screening for rare diseases in newborns

ELIZABETH, N.C. — 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 and Krystal Hayes) 

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.

March of Dimes, which also pushed for the new screening, says improvements in technology made it more readily available.

"North Carolina has been working on this for two years, so it's a huge accomplishment for the state," Patricia Campbell from the March of Dimes said.

The fee for newborn screening will go up from $44 to $128, but the tests will save many babies' lives.

"I'm hoping that it will help families and stuff, so I'm really excited about it," Haley Hayes said.

The state hopes to start routinely conducting the new tests in the next 18 to 24 months.

When the new tests are in place, North Carolina will be just one of seven states meeting national standards for newborn screening.

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