Kate Vickerman, BS

Ashley Kuhl, MS, CGC

Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis 

• Illustrate the key clinical features and genetic etiology of Pompe disease, differentiating between infantile-onset and late-onset forms.
• Examine the benefits, challenges, and limitations of newborn screening (NBS) for Pompe disease.
• Evaluate the emotional and psychological impact of a late-onset Pompe disease diagnosis on parents.
• Examine important elements of providing comprehensive care for individuals and families as they receive a diagnosis of late-onset Pompe disease through NBS.