Two Disabled Dudes

264 - A Mother's Journey with CTNNB1 Syndrome and her Family's Path to Inclusivity


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This episode features a heartfelt conversation with Rivki, a mother of six, including her youngest son, Eli, who was diagnosed with CTNNB1 syndrome, a rare genetic disorder. She shares her journey of recognizing early developmental concerns, overcoming medical dismissals, and advocating for a proper diagnosis. She discusses the impact of Eli's condition on the family, the challenges and joys of raising a child with a challenging rare disease, and the importance of allowing her other children to express their full range of emotions. As a therapist, she emphasizes inclusivity, the power of curiosity in seeking answers, and breaking societal stigmas around disabilities. Her story is one of resilience, growth, and fostering understanding in the face of adversity.

Also In This Episode:

  • Sean's positive TSA experience
  • 43 year old small talk
  • Thank you notes: Rocky the Rare At Sea travel agent, and a kind Trader Joe's employee

...more
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Two Disabled DudesBy The Dudes

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