#203 CTNNB1 Syndrome with Effie Parks of Once Upon a Gene

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Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome.

When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes.

Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on Episode #143 of Once Upon a Gene where genetic counselors shared impactful rare disease stories!

On This Episode We Discuss:

Effie’s son Ford’s diagnosis with a rare disorder, CTNNB1 syndrome

Navigating a condition that only 50 other people in the world had

How CTNNB1 Syndrome affects the body

What resources Effie wishes she knew about when Ford was diagnosed

Advice for other parents in the rare disease space who are thinking about having another child

Ford’s feature in Beyond The Diagnosis

Meeting other parents and caregivers of people with rare diseases

Where people can listen to the podcast

Effie’s son, Ford, was recently cited as the inspiration for a new, accessible and inclusive playground in Washington, you can read the article here! We also wanted to share this awesome graphic that Effie made that includes a detailed list of different things that people can do to support a rare disease family!

If Effie’s story piqued your interest, check out this blog post entitled “Life Under the Looking Glass” written by Katie Lloyd about her experience battling postpartum depression all while grappling with a diagnosis.

To learn more about rare diseases like CTNNB1 Syndrome, visit the National Organization for Rare Disorders, Global Genes, and the EveryLife Foundation. You can follow Effie and Once Upon a Gene on Twitter, LinkedIn, and Instagram!

Stay tuned for the next new episode of DNA Today on September 30th, 2022 where we’ll be talking to Chris Brandt and Sandesh Patel about Mosaicism! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

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