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NC lawmakers add 3 rare, potentially fatal conditions to newborn screenings

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RALEIGH, N.C. — North Carolina took another step to walk the walk and make sure that newborn babies are healthy and happy.

State lawmakers decided earlier this year to add Pompe disease, X-ALD and MPS-1 to the list of newborn screening requirements after the public called for the change.

These three rare, inherited conditions can lead to progressive muscle weakness, organ damage and possibly death, according to the Winston-Salem Journal.

By testing for these conditions early, this decision will help families seek treatment for the rare and serious conditions from a young age.

Early treatment can even save a child’s life.

According to WSOC, Haley Hayes, 12, and her mother were among those pushing for this change.

They know why this is important because Haley Hayes lives with Pompe Disease.

While this disease is rare, many babies that are not diagnosed never make it past their first birthday.

Hayes was fortunate to have been diagnosed at 6-months-old.

“It was early, but not early enough,” Haley’s mom Krystal Hayes said to WSOC. “Within months, she would have passed away if we hadn’t gotten that diagnosis.”

WSOC reports that, if doctor’s were able to diagnose her daughter sooner, Haley might have avoided a heart defect and might have full use of her legs.

The three conditions were added to the state’s newborn metabolic screen panel as part of a health care component to the 2018-19 state budget, according to the Winston-Salem Journal.

WSOC reports the state plans for these new tests to become the norm within the next 18 to 24 months.

North Carolina will become one of seven states meeting newborn screening national standards.

The Journal reports that five states already have systems in place to screen for X-ALD, four screen for Pompe disease and three screen for MPS-1.

Another five states plan to begin screening for X-ALD.

Because of this legal change, the newborn screening fee will rise from $44 to $128, a cost which will likely save lives.

North Carolina already requires newborn screenings for the following metabolic and genetic conditions:

  • congenital hypothyroidism
  • galactosemia
  • congenital adrenal hyperplasia
  • hemoglobinopathy disease (e.g., sickle cell)
  • biotinidase deficiency
  • cystic fibrosis
  • Severe Combined Immunodeficiency (SCID)
  • certain metabolic disorders detectable by “Tandem Mass Spectrometry,” including phenylketonuria



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