Welcome to 2021 and our second season of Raising Rare.
We have a very special guest, fellow podcaster and rare Mom, Effie Parks. Effie is the host of the wildly popular Once Upon a Gene Podcast and creator of Once Upon a Gene TV. This is part 1 of a two-part interview.
Effie’s son Ford has a rare mutation of the gene CTNNB-1. It affects the production of beta-catenin, which is important for the regulation of cell-cell adhesion and for gene transcription. The effects are slow developmental progress and motor issues, including dystonia.
We hear about Ford’s superpower and the amazing ways his condition has shaped Effie’s life. Her unstoppable optimism and cheerful personality are perfect for the role she has found herself playing. We also talk about the strain that having a child with a rare condition can put on friendships.
Surprisingly, both Sanath and Effie feel that podcasting has helped open a line of communication that might be awkward in person. Friends can learn about the condition and hear how the kids are doing without the need to say the right thing in response. This allows them to reach out to friends and just hang out.
In part two, we will continue our round-table discussion. Tune in next time.
Graphics: Ramya Ramaswamy ramya@cureGPX4.org
Sound: Jacob Tompkins (firstname.lastname@example.org)