“Newborn Screening Presentation” – Kim Tuminello & Nicola Longo, MD PhD

September is National Newborn Screening Awareness Month, and on that note, we would like to share with you the 2018 CCDS Symposium presentation “Qualifying Newborn Screening.” GAMT deficiency is frequently referred to as a “no-brainer” for newborn screening. Children with GAMT that are diagnosed at birth live healthy lives. Children with GAMT diagnosed later in life often suffer from severe speech delays, seizures, and intellectual disabilities. The cost of adding GAMT to the newborn screening already being performed on all babies born in most countries has been estimated to be at or below 25 cents. Why then is this not happening universally?

Kim Tuminello, ACD Director of Advocacy, spoke at the 2018 CCDS Symposium with Dr. Nicola Longo, ACD Scientific Medical Advisory Board Chair, about newborn screening and how our entire CCDS community can get involved. Ultimately, the goal is to have treatments for all three CCDS (AGAT, GAMT, and CTD) and to have each screened for in every hospital and homebirth worldwide. I hope you’ll spend a few minutes watching our presentation and learning more about this important issue.