Friday Sep 15, 2023

#254 Bardet Biedl Syndrome with The Alms

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins the podcast as a guest host especially for genetic topics, like in this episode. 

It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles.

In this episode, parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder.  People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. You can learn more about Everett in this article

We are sharing this episode in preparation for Bardet Biedl Syndrome awareness day on September 24th, 2023! Join us in sharing this episode on social media to raise awareness. 

This interview explores…

  • Basics of Bardet Biedl Syndrome (BBS)
  • What their OB/GYN discovered 
  • Meeting with prenatal genetic counselor
  • Testing during pregnancy and after birth
  • Sequence of tests leading to BBS diagnosis
  • When and how they learned about the condition
  • Coping with the diagnosis news
  • Timing of Everett's BBS diagnosis
  • Outlook for quality and length of Everett's life
  • Everett's current quality of life and symptoms
  • Experience with seizures, onset, and medication
  • Vision loss, adaptation, and legal blindness
  • Dealing with obesity or insatiable hunger
  • Participation, goal and outcome of the clinical trial
  • Surgeries for extra fingers and toes
  • Everett's current status as a teenager
  • Additional symptoms developed since childhood
  • Remaining BBS symptoms not experienced by Everett
  • BBS community, connections, and resources
  • Advice for parents of undiagnosed diseases


This was the first part of the conversation, for the second half check out Episode 12 of It Happened To Me on Apple Podcasts, Spotify, or any other podcast player by searching, “It Happened To Me”. Learn more about the show on their website


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