NC Newborns Now Screened for Two Additional Disorders to Help Provide Early Diagnosis and Treatment | Eastern North Carolina Now

Babies born in North Carolina will now be screened for two additional disorders, along with the other disorders screened for by the NC Department of Health and Human Services’ Newborn Screening Program.

Press Release:

    RALEIGH     Babies born in North Carolina will now be screened for two additional disorders, along with the other disorders screened for by the NC Department of Health and Human Services' Newborn Screening Program. Newborns will now be screened for two Lysosomal Storage Disorders - Mucopolysaccharidosis Type I (MPS I) and Pompe Disease.

    "Newborn screening is critical for early detection and treatment of many genetic and biochemical disorders in the first few days and weeks after birth," said Dr. Scott Shone, Director of the State Laboratory of Public Health at NCDHHS. "Before leaving the hospital, a few drops of the baby's blood are collected on a special filter paper card and sent to the State Laboratory to help identify babies who may be at increased risk for certain health problems as early as possible."

    Each year, more than 200 babies in North Carolina are identified with genetic or biochemical disorders through newborn screening. Studies have shown the importance of early identification and treatment which can be lifesaving for the most severe cases. Expanding this public health service in North Carolina provides newborns and their families with an opportunity for better outcomes and an improved quality of life, and is one of several efforts to further the department's priority to support child and family well-being.

    "Newborn screening is America's most successful public health program, offering babies with life-threatening and debilitating diseases the opportunity for therapeutic intervention at the earliest possible time," said Sharon King, member of the North Carolina Advisory Council on Rare Diseases. "I applaud the NC Newborn Screening Program for the addition of MPS I and Pompe disease to the state's newborn screening panel ensuring a better quality of life for these babies and their families."

    MPS I affects many parts of the body including the brain, heart, liver, eyes and respiratory system. Like many newborn screening conditions, there are often no signs or symptoms of the condition at birth. Severe MPS I is found in approximately 1 in 100,000 individuals. If untreated, symptoms may include developmental delays, skeletal deformities, impacts to motor skills and respiratory tract infections.

    Pompe disease also varies in severity and symptoms. Types of Pompe Disease include infantile-onset and late-onset. Babies affected with Infantile-onset Pompe Disease (IOPD) demonstrate poor muscle development, muscle weakness, impacts to liver development, heart defects and a failure to thrive. IOPD may be fatal if patients do not receive treatment.

    The addition of MPS I and Pompe Disease screening is an expansion in newborn screening services provided in North Carolina. The Newborn Screening Program previously added Spinal Muscular Atrophy (SMA) in 2021 and X-Linked Adrenoleukodystrophy (X-ALD) in 2022. North Carolina joins a growing number of states now screening newborns for MPS I and Pompe Disease.

    "The National MPS Society commends the NC Newborn Screening Program for the addition of MPS I and Pompe disease to the state's newborn screening panel," said Terri Klein, President and CEO of the National MPS Society. "The Society is located in Durham and now we can champion our own state with this essential decision. We are grateful for our legislators, NCDHHS and the tireless advocates who championed this outcome for the past five years."

    "This is such fantastic news for the rare disease community," said Tara J. Britt, Founder and President of Rare Disease Innovations Institute Inc. "Newborn Screening saves lives and we are so thrilled that NBS is a priority in North Carolina."

    The NCDHHS Newborn Screening Follow-up Program in the Division of Child and Family Wellbeing and in partnership with the UNC Division of Genetics & Metabolism ensures babies identified with abnormal newborn screening results receive follow-up care and referrals to the appropriate medical specialists.

  • NC Department of Health and Human Services
  • 2001 Mail Service Center
  • Raleigh, NC 27699-2001
  • Ph: (919) 855-4840

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