Shedding Light on Rare Genetic Disabilities with Effie Parks of Once Upon A Gene
In this episode, we are talking with Effie Parks, creator and host of Once Upon A Gene. As a parent of a child with special needs, Effie’s cause is to help other families navigate their new realities by sharing stories, creating a community of support.
After months of doctor’s visits and tests, Effie shares the emotional road to her son’s rare genetic syndrome diagnosis, CTNNB1. Effie goes into detail about what CTNNB1 is, what the symptoms are and how it can be different in each case.
As Effie tried to navigate her new reality, she found herself feeling isolated, scared, and not able to relate to friends with children who didn’t have the same challenges. After searching for some guidance in her journey, Effie found podcasts that became a lifeline, helping her to realize she was not alone. It was then that Effie knew she wanted to help create more of this content in the form of a podcast to help others know that they are not alone.
As our conversation goes on, Effie describes the impact she’s seen since starting her show in bringing understanding and awareness to people with disabilities. We also talk about the charity she is raising awareness for, www.ctnnb1.org and the importance of the amount of people who donate more so than the actual amount of money donated.
The discussion wraps up with Effie talking about the hurdles she had when she started her podcast. She gives advice to anyone who may be struggling with the technical aspect of their show.
· Effie explains what CTNNB1 is (1:45)
· The warning signs that signaled something wasn’t quite right with her son (2:50)
· Why Effie decided to start a podcast (6:06)
· Effie talks about the format of her podcast (11:22)
· The impact Effie has seen since starting her show (12:30)
· Effie talks about her charity, CTNNB1.org (17:33)
· The challenges Effie has encountered since starting her podcast (21:51)