#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. 

Stay tuned for the next new episode of DNA Today! New episodes are released every Friday. In the meantime, you can binge over 250 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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