On Rare

Oct 29 2024 32 ep. 35 mins 3
On Rare Podcast artwork

Join us each month to listen and learn from the experts – people living with rare conditions. We’ll discuss the challenges and triumphs of life with a rare genetic condition and hear from scientists working to develop new medicines. Honest conversations with the rare community, led by the patient advocacy team at BridgeBio. Subscribe below to catch each episode as it goes live.

  Science  Education  Health & Fitness
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“You can do everything that you want to do.” Erin is living with hypochondroplasia.

Oct 29 2024 39 mins  
Erin joins David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, to share her experience living with hypochondroplasia. Erin also has two sons living with hypochondroplasia and one son of average height. Raised in a loving and supportive family with a can-do attitude, her father told her that she may be of sh

“I have 2I, but I am not 2I.” Misty’s Journey Living With LGMD2I/R9

Oct 03 2024 45 mins  
In today’s episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Misty about her experience living with limb-girdle muscular dystrophy, type2I/R9 (LGMD2I/R9). Misty details the suffering she experienced in her childhood from bullying for the symptoms she now realizes are conne

“They told me to go home and love my child” Dawn’s daughter Vayle is living with Canavan Disease.

Aug 12 2024 34 mins  
In this emotional episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Dawn, the single parent of Vayle, a 5-year-old girl living with Canavan Disease. Dawn shares how she came to realize that Vayle was not meeting developmental milestones at 3-4 months old. Despite initial rea

“I chose to reinvent myself.” Sean is living with hereditary transthyretin amyloidosis (ATTR).

Jul 09 2024 30 mins  
Sean joins David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy to share his journey with ATTR. In this episode, Sean describes his initial symptoms, which included carpal tunnel syndrome and numbness in his foot and ankle, the misdiagnosis he experienced, and his eventual diagnosis at the Cleveland Clinic in

“If I had known then what I know now, I wouldn’t have been so scared.” Alex is the mother of Hudson, a boy living with hypochondroplasia, a rare form of dwarfism.

Jun 10 2024 43 mins  
Alex joins David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, to speak about her son, Hudson. Before Hudson’s birth, Alex and her husband learned that Hudson would be born with hypochondroplasia. A genetic counselor helped her to understand the diagnosis. Although Alex is a medical professional, she had

Jonathan Fox, MD, talks about ATTR

Apr 25 2024 20 mins  

“We Only Live in This Moment.” Part Two of a two-part conversation with Eric, who lives with Transthyretin Amyloidosis (ATTR).

Apr 25 2024 21 mins  
In part two, Eric continues talking about his experience living with Transthyretin Amyloidosis (ATTR) with David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy. Eric recalls the surprise he experienced when a routine doctor’s visit led to him, within hours, to undergoing a heart transplant. Though the surge

“Accentuate the Positive.” Eric is living with Transthyretin Amyloidosis (ATTR).

Apr 03 2024 33 mins  
Eric joins David Rintell, Head of Patient Advocacy at BridgeBio and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy in a two-part conversation to talk about his experience of living with Transthyretin Amyloidosis (ATTR). Eric was an extremely active person who enjoyed sports, riding horses and working on his 20-acre property when he began to have issues which h

“Having a brother with a rare condition has changed who I am. My family has a big heart because of my brother.”

Feb 26 2024 45 mins  
Join David Rintell, Head of Patient Advocacy at BridgeBio and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy as they recognize Rare Disease Day, February 29, 2024, by speaking with siblings of people living with rare conditions. It is often said that a rare condition or disease impacts the entire family, and this is particularly true for rare siblings. Due to

“You have to find your people. It’s the most important thing you do along this journey.” Effie is the mother of Ford, a boy living with CTNNB1 syndrome and host of Once Upon a Gene.

Jan 29 2024 30 mins  
Becoming a parent to a child with a rare disease was extremely isolating for Effie. In the second episode of our two-part series with Effie, she shares that finding the world of podcasts, documenting similar experiences to her own, was magical. Effie explains how important it is to find others who "get it" and how this feeling of belonging changed everything for her. As Effie expla