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 2 ½ 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. Story Reference Points: What is CTNNB1 Syndrome? @ 1:32 Effie’s path to a diagnosis for her son Ford @ 4:54 Effie’s experience with Genetics WES (Whole Exome Sequencing) for Ford @ 11:54 A genetic diagnosis opens up a network of CTNNB1 parents @ 17:22 Being a parent of a child with special needs @ 21:20 A second pregnancy, self-advocacy, and a sibling for Ford @ 28:24 Social media and other helpful resources @ 32:12 The challenge of finding all the right resources @ 37:10 The many unknowns of rare disease @ 41:03 Effie’s advice to other parents in similar situations @ 44:42 Links and Resources Find Effie on Twitter: @ArareCollection CTNNB1 Syndrome Awareness Worldwide Unique Rare Disease Foundation Kindering Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.