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


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