Effie Parks, patient advocate

When Effie’s son, Ford, was born with an extremely rare genetic condition called CTNNB1 syndrome, she dove headfirst into the world of advocacy. CTNNB1 syndrome is caused by a deletion, partial deletion, or mutation of the CTNNB1 gene. It is a neurological condition that can cause a range of symptoms from mild developmental delays to severe physical and intellectual disabilities. To help herself and others cope with and manage raising a child with a disability or rare genetic condition, Effie started the Once Upon a Gene podcast. She shares her personal stories and interviews other parents, patients, advocates, doctors, scientists, and more.