Effie Parks felt lost when her son, Ford, was born.
Ultimately, a geneticist recommended a test. Ford was diagnosed with a rare genetic disorder, CTNNB1 Syndrome, when he was 16 months old.
“It’s a pretty intimidating diagnosis,” she said.
CTNNB1 Syndrome refers to either a deletion, partial deletion or mutation of the CTNNB1 gene.
“The CTNNB1 gene provides the blueprint for the creation of beta-catenin, which is a multitasking protein that allows for cell specialization, cell division/growth, cell adhesion, and inter-cell communication, among other things,” according to CTNNB1.org.
Depending on the degree of alteration or mutation, there is a wide range of abilities that are affected in people with CTNNB1 Syndrome. Most people with CTNNB1 syndrome have a developmental delay or intellectual disability, speech impairment, low muscle tone in the trunk and altered tone in the legs making walking difficult, a small head circumference (microcephaly), and vision problems among other issues.
CTNNB1 Syndrome is relatively rare. Less than 150 people have been diagnosed with the genetic disorder. There’s no cure, though symptoms of the genetic disorder can be treated.
Being a new parent to a child with disabilities was isolating for Parks. She didn’t grow up knowing many disabled children and no members of her family had disabilities. Several of her friends also had babies around the time Parks gave birth to Ford.
“It got really hard to watch my friends’ babies hit all the milestones when Ford couldn’t,” she said. “I just felt lost and alone.”
After quickly devouring the few podcasts around the subject, Parks knew there had to be more — more to the conversation, more information, more resources.
The “Once Upon a Gene” podcast explores the world of raising children with disabilities and rare genetic disorders, Parks said. In it, she shares her own personal story of raising Ford, while trying to find the non-existent rulebook of bringing up such a kid. The podcast features interviews with fellow parents, therapists, doctors and anyone else who wants to share their story.
Topics discussed in the podcast so far include a survival guide to long hospital visits, how to include children with disabilities at parties and parenting a child with disabilities through the eyes of a father.
“The topics never end,” she said.
“The response has been so positive. People are listening and want to know more,” she said. “I just felt so inspired, so heard, so seen.”
She said she feels humbled by the positive response and has received such valuable feedback.