The March of Dimes released today the following statement from President Dr. Jennifer L. Howse regarding the U.S. Secretary of Health and Human Services’ acceptance of the Secretary’s Advisory Committee on Heritable Diseases recommendation to add Pompe disease to the federal Recommended Uniform Screening Panel (RUSP):
“The March of Dimes commends Secretary Burwell for adding Pompe disease to the list of disorders for which every newborn born in the United States should be screened. This action gives states the guidance they need to adopt testing for this devastating disorder.
“Pompe disease is one of several lysosomal storage disorders that can lead to progressive and, in infants and children, often tragically fatal muscle weakness. A rare genetic condition, it occurs in about one in every 28,000 births in the U.S. Pompe disease causes certain sugars to accumulate in the muscle, interfering with their ability to function. If detected and treated early, children with Pompe disease can avoid the worst consequences of this disorder through enzyme replacement therapy (ERT). However, the success of ERT is highly dependent on its initiation before symptoms appear. As a result, newborn screening is a critical tool for saving lives.
“March of Dimes chapters across the nation will be advocating for the addition of Pompe disease to newborn screening panels in every state. We urge states to take up this vitally important issue as quickly as possible to ensure that all newborns can benefit from this potentially life-saving test.”