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 when there will be genetic topics, like 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.
On This Episode We Discuss:
- 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
Check out more episodes 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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Негізгі бет Bardet Biedl Syndrome with The Alms
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