Bardet-Biedl Syndrome and the Value of a Diagnosis

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 Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page. Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club! Do you want to support Patient Stories? You can make a donation online! Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Looking for a place to collect your family history and share with relatives? Check out the FamGenix app. Grey Genetics is no longer active on social media. To receive occasional email updates, sign up for our mailing list⁠.