The AMDA is very excited to announce that the U.S. Pompe Community is one step closer to having newborn screening become a reality for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More! On March 2, 2015, the Secretary of Health and Human Services, Sylvia Burwell, accepted the recommendation to add Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More to the Recommended Uniform Screening Panel (RUSP). To read Secretary Burwell’s letter, please click here.
While newborn screening for Pompe is still not mandatory, inclusion on the RUSP is an important step forward. The AMDA wants to thank everyone who helped advocate for newborn screening for Pompe. It has been a long road to get here, but by working together we continue to show the world that the Pompe Community is unified, strong, and committed!