Show notes
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.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
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