Denovo (Genetic But Not Inhereited) With Jenny From Texas

Send us Fan MailWhat if two of your children were diagnosed with two completely different rare genetic conditions… on the same day?In this episode of Rare Connection, I speak with Jenny, a mother of four, whose children Avery and Paxton were both diagnosed through whole exome sequencing with two separate rare diseases — Phelan-McDermid Syndrome and Tatton Brown Rahman Syndrome. Both conditions are genetic, but not inherited. They are de novo mutations, meaning they occurred for the first time in her children.Avery, now 19, has Phelan-McDermid Syndrome, a condition often associated with autism, developmental delay, speech impairment, and hypotonia. Paxton, 12, has Tatton Brown Rahman Syndrome, a rare overgrowth and neurodevelopmental disorder linked to developmental differences, autism traits, and intellectual disability.Jenny shares what it was like to receive both diagnoses at once, how her family adapted, and how her daughters Kaylin and Presley have become supportive siblings along the way. She also discusses her work as a behavior analyst and her advocacy efforts in the rare disease community, including her role with CureSHANK and support within the Tatton Brown Rahman Syndrome community.This episode highlights the reality that rare diseases don’t always follow predictable patterns—and that even across different diagnoses, families often share common experiences in navigating care, finding support, and building resilience.💬 Have a question or want to share your experience? Use the “Send Me a Text” link in the show notes.🔔 Follow and subscribe to Rare Connection so you don’t miss future episodes connecting patients, families, and professionals across the rare disease community.🌍 Rare Connection is available on YouTube, Buzzsprout, Apple Podcasts, Spotify, Amazon Music, and more.⚠️ Disclaimer: This podcast is for educational purposes only and is not intended to provide medical advice. Please consult a qualified healthcare professional for medical concerns.❤️ If you or someone you know is struggling, help is available. In the U.S., you can call or text 988 for the Suicide and Crisis Lifeline, or visit 988lifeline.org.Support the show