Episode 1

full
Published on:

16th Jan 2021

Effie Parks, The power of laughter, podcasts, and passive friendships

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 (losstudiosnc@gmail.com)

Show artwork for Raising Rare

About the Podcast

Raising Rare
Imagine the excitement of becoming a new parent and then within hours finding out your child has a serious developmental disorder.

That is exactly where Sanath Kumar Ramesh found himself in the summer of 2018. One year later, on his son’s first birthday, they found out that their son, Raghav, had an extremely rare mutation of the GPX4 gene. At the time, doctors told them that Raghav may be the only one on the planet with this genetic variant who had lived beyond one month of life. The prognosis is completely unknown.

They were alone.

They were scared.

And then they went into action.

And now they want to share their story.

Every couple of weeks Raising Rare will give you an update on baby Raghav as he grows up. We will also share how Sanath and his wife Ramya are driving toward a treatment for their son. We will explore the science that Sanath is initiating, their efforts to fund that research, and the people they meet along the way. We will also hear how the family adjusts to challenges and changes that they are faced with. Most importantly, we will share the wisdom they gain along the way so that other Rare Parents can learn from their steps and missteps.

We don’t know where this story will go. We do know we want you to join us for the journey.
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About your hosts

Sanath Kumar Ramesh

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Kevin Freiert

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