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February 3, 2024
Parents of babies born with the fatal genetic brain disorder Krabbe disease are advocating for more widespread newborn screening to give future parents the choice of early intervention. This week, a federal advisory panel on newborn screening took a significant step toward addressing this concern by voting 10-3 to recommend the addition of infantile Krabbe disease to the Recommended Uniform Screening Panel (RUSP), a national guideline for testing inherited disorders in newborns.
Krabbe disease, a rare and severe genetic disorder caused by mutations in the GALC gene, leads to a deficiency in the lysosomal enzyme galactocerebrosidase. This enzyme is crucial for maintaining the insulation of nerve cells known as myelin. Infantile-onset Krabbe disease manifests within the first six months of life, resulting in symptoms such as loss of muscle tone, spasticity, seizures, and loss of hearing and sight. Without intervention, affected children typically do not survive beyond the age of 2.
The recent vote by the U.S. Advisory Committee on Heritable Disorders in Newborns and Children recommends the addition of Krabbe disease to the national screening panel, signaling that it will eventually be included in more state newborn screening programs. This decision follows a tie vote that excluded Krabbe from the national screening list last year.
The advocacy for newborn screening for Krabbe disease stems from the experiences of families like the Webbs from Tennessee, whose son Owen was tested prenatally for Krabbe and received a stem cell transplant soon after birth. The transplant significantly improved Owen’s life and prompted the state of Tennessee to adopt newborn screening for Krabbe in 2017. In contrast, families like the Danoy family from Virginia faced challenges as their daughter Sofia was not diagnosed until six months, leading to unnecessary suffering.
Dr. Joanne Kurtzberg, a pediatric transplant specialist from Duke University, emphasized the importance of early diagnosis through newborn screening, stating that it is the only way to rescue affected babies from pain, suffering, and early death. The study estimates that with expanded nationwide screening, approximately 11 more families per year could be informed of the likelihood that their newborn has Krabbe disease, enabling timely intervention.
The decision was applauded by advocacy groups such as KrabbeConnect and Hunter’s Hope, which have campaigned for years to include Krabbe in newborn screening. The victory highlights the persistence of these groups in striving for consistency in identifying and treating cases of Krabbe disease.
While the vote is a significant step forward, challenges remain in ensuring swift and effective treatment for affected babies. The variation in health insurance and access to medical care across states may impact the ability to provide immediate stem cell transplants after a diagnosis. Despite these challenges, families and advocates are hopeful that the inclusion of Krabbe disease in the newborn screening panel will pave the way for a future where affected children can receive timely and life-saving interventions.
