New in the Family: Ford and CTNNB1

Effie and her husband's initial concerns about their son Ford were brushed aside. But by the time Ford was 3 months old, he was failing to thrive. Soon, Effie was initiated into the world of special needs and the diagnostic odyssey. When Ford was 16 months old, thanks to Whole Exome Sequencing, he was finally diagnosed with CTNNB1 Syndrome, a rare genetic condition caused by a de novo mutation in the CTNNB1 gene. Today, Ford is nearly 2½ years old. Ford's diagnosis has allowed Effie to connect with other parents of children with CTNNB1 Syndrome. Together, they have also started an organization to raise awareness for CTNNB1 Syndrome and to support and connect with other affected families.