Running on Empty: Inherited Bone Marrow Failure (219)

3:15 – 4:15 pm Friday, September 14

1CNE Inherited bone marrow failure syndromes are a diverse group of hematologic disorders. Despite the name, some children have new, not inherited, genetic mutations. These mutations can result in congenital abnormalities or disease in specific organs or increased cancer predisposition. Through a series of patient vignettes we will follow six patients with common syndromes highlighting clinical presentation, diagnostic evaluation, and evidence-based treatment and monitoring recommendations. We also will explore the impact of a genetic diagnosis on the psychological and social well-being of families as the parents grapple with the decision whether to pursue genetic testing for themselves or their other children.