Pompe Disease and the Missouri LSD NBS Experience

Tomi Toler, a Genetic Counselor, discusses her experience working with families and children diagnosed with Lysosomal Storage Disorders (LSDs) at Children’s Hospital St. Louis, which serves as a referral site for babies identified through Newborn Screening (NBS). This webinar from 2016 includes an overview of the history of LSD screening in Missouri, demographics for identified cases, referral protocols for each condition, and treatment options for LSDs. Toler also discusses opportunities for improving referral pathways and long term follow-up with families.

Presenter: Tomi Toler, MS, CGC