Denovo (Genetic But Not Inhereited) With Jenny From Texas

Denovo (Genetic But Not Inhereited) With Jenny From Texas

From Rare Connection by Joanna

March 23, 2026 · 53 min · Season 6 · Episode 7

About this episode

In this episode, Joanna speaks with Jenny about her children's diagnoses of two different rare genetic conditions that are de novo mutations.

Send us Fan Mail What 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 ti...

People in this episode

Host: Joanna

Guest: Jenny

Topics covered

  • genetic conditions
  • rare diseases
  • de novo mutations
  • whole exome sequencing
  • parenting
  • healthcare

Keywords

  • rare genetic conditions
  • Phelan-McDermid Syndrome
  • Tatton Brown Rahman Syndrome
  • de novo mutations
  • whole exome sequencing
  • parenting
  • healthcare

Mentioned in this episode

Books & works: Phelan-McDermid Syndrome, Tatton Brown Rahman Syndrome

More episodes of Rare Connection

Explore listener stats, chart rankings, contacts and more on the Rare Connection podcast page.