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Bardet-Biedl Syndrome and the Value of a Diagnosis

Bardet-Biedl Syndrome and the Value of a Diagnosis

FromPatient Stories with Grey Genetics


Bardet-Biedl Syndrome and the Value of a Diagnosis

FromPatient Stories with Grey Genetics

ratings:
Length:
43 minutes
Released:
Oct 31, 2023
Format:
Podcast episode

Description

Molly sensed that something was different with her son Joshua starting shortly after birth: he was a very fussy baby; his growth was off the charts. By 10-12 months, Molly had the full attention of her pediatrician; Josh was clearly not meeting milestones. She then spent over five years focused on finding a diagnosis. Their diagnostic odyssey included meeting with five geneticists before they finally traveled out of state for a full clinical trial just after the Covid-19 Pandemic hit. Just before his 6th birthday, Josh was diagnosed with Bardet-Biedl syndrome (BBS). Molly shares how she had to learn to respond to people’s comments about Joshua’s obesity as well as generic recommendations from uninformed healthcare providers about diet and exercise. For them, the pandemic offered a temporary refuge from the judgements of society and the stigma associated with obesity. She also shares how Josh's diagnosis has influenced his medical care and given her a new and powerful tool to respond to comments related to obesity.

Links and Resources 
https://msha.ke/mollyedangelo/
Bardet Biedl Syndrome Foundation  
Lead For Rare Obesity

Connect with Molly on Social Media:
Molly on Instagram
Molly on Facebook
Molly on Twitter

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Released:
Oct 31, 2023
Format:
Podcast episode

Titles in the series (92)

Genetics isn’t always black and white. And the emotions and decisions surrounding genetic testing can be even more complex. Hosted by genetic counselor Eleanor Griffith, the show brings you the personal experiences of patients and genetic counselors.