CdLS Connections
Navigating the challenges & triumphs of Cornelia de Lange Syndrome (CdLS) and where we explore, learn, and share everything related to CdLS. We will learn from families, clinicians, researchers & educators and those exploring new frontiers relevant to the CdLS community.
CdLS Connections
Molecular Testing at Age 33- Leanna's Story
August 29, 2024
•
Canadian CdLS Foundation
•
Season 2
•
Episode 2
Join us to hear the story of Leanna who has lived with the diagnosis of CdLS for over 30 years. Only last year at the age of 32 did Leanna receive molecular testing to find out that she did not have Cornelia de Lange Syndrome but another rare syndrome, Rubinstein-Taybe Syndromes (RTS). Join us in hearing discussion with Leanna's mom, Brenda King, as she shares the Leanna's journey and similarities and differences between CdLS and RTS. An example of the benefits of advancements in genetics and the importance of molecular testing.
