FACILITATING NEWBORN SCREENING AND EARLY INTERVENTION FOR INFANTS BORN WITH RARE DISEASES

SEASES BY CATHERINE NESTER, BSN

In the push for fast and accurate diagnoses that save lives, improved newborn screening capabilities offer hope for improved outcomes.

Few areas of infant healthcare are as important as newborn screening and early intervention. When it comes to diagnosing and treating babies born with rare diseases, whose symptoms might not be immediately apparent, current comprehensive screening technology has proven to be life-saving.

Consider these scenarios:

A baby is born prematurely and shows signs of respiratory distress. She is immediately admitted to the neonatal intensive care unit (NICU), where she undergoes a series of tests including an electrocardiogram, a computed tomography (CT) scan, and a panel of lab tests. She is seen by a cardiologist and an endocrinologist.

The parents endure what seems like an eternity of waiting. Finally, the cardiologist informs them that some of the tests suggested abnormalities in their baby's arteries, and encourages the parents to consent to a genetic test that could provide additional clarity. They agree to move forward with the test and the results show that their daughter was born with generalized arterial calcification of infancy (GACI), the infantile form of ENPP1 Deficiency, a rare disease characterized by abnormal mineralization and pathologic calcification of the arteries. It is a serious disease that requires early recognition and intervention.

Although the baby remains in the hospital for two months, her condition stabilizes to the point that she can go home with her parents and meet her siblings and other family members. Meanwhile, her parents learn of a clinical trial for what could be the first approved treatment for GACI. The baby meets the trial's eligibility criteria and is enrolled. Over the course of her participation in the trial, during which she receives the investigational therapy, she makes a series of visits to specialists, and undergoes close monitoring. The baby grows and thrives, despite the many challenges related to her disease.