On Rare
Claim This Podcastby BridgeBio Pharma
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Podcast Overview
<p><span>Honest conversations with the rare community, led by our hosts, David Rintell and Mandy Rohrig of BridgeBio.</span></p>
Language
🇺🇲
Publishing Since
2/20/2022
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Recent Episodes
June 3, 2026
“He Gives Everything a Go” — Elliott, Living with MOCD Type A
David Rintell and Mandy Rohrig interview Geoff and Lucy, parents of Elliott, about navigating MOCD type A and the impact of experimental treatment, while Dr. Günter Schwarz explains the rare metabolic disorder.
March 27, 2026
On Rare: Arielle's Long Diagnostic Journey
Seizures, incorrect diagnoses, and years of unanswered questions shaped Arielle’s journey with autosomal dominant hypocalcemia type 1 (ADH1). ADH1 is a rare genetic condition in which the body is unable to accurately sense blood calcium levels, leading to hypoparathyroidism. Although she grew up aware that her calcium levels were low, she did not receive a formal diagnosis until age 16, when a severe calcium crash led to a seizure and ultimately revealed the underlying cause. Years later, when her young son Sebastian began experiencing seizures, Arielle recognized familiar warning signs of abnormal calcium levels. Despite a known family history of abnormal calcium levels, his symptoms were initially misdiagnosed, resulting in repeated hospital visits and increasing concern, until genetic testing for hypoparathyroidism ultimately confirmed a diagnosis of ADH1. In this episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, speak with Arielle about navigating life with ADH1 and advocating for answers. She shares the realities of managing a condition that can quickly become life-threatening, from muscle spasms and seizures to hospitalizations and kidney complications, while raising a family and pushing for a diagnosis. Her story highlights the importance of persistence, listening to one’s own instincts, and continuing to ask questions when something doesn’t feel right, while underscoring the power of a family coming together to find answers to a condition that has affected generations. Dr. Scott Adler, Chief Medical Officer of BridgeBio affiliate Calcilytix and a nephrologist, provides a medical overview of ADH1. Abnormal calcium levels can cause muscle spasms, and severe seizures, and painful muscle contractions known as tetany. About 80% of ADH1 cases are usually inherited in an autosomal dominant pattern, meaning they can be passed down from one affected parent. The remaining cases occur spontaneously, with no family history of the condition. ADH1 is currently managed with oral calcium and active vitamin D supplementation, although maintaining stable levels is challenging and may lead to complications over time.
March 5, 2026
On Rare Innovators: Kat Bryant Knudson and Reimagining Collaboration — “It’s Our Table”
In this episode of On Rare: Innovators, hosts David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, speak with Kat Bryant Knudson, Founder and CEO of the Speak Foundation and a leader in the limb-girdle muscular dystrophy (LGMD) community. Diagnosed as a child after experiencing early symptoms of muscle breakdown, Kat spent years searching for answers before receiving a definitive genetic diagnosis. What began as a personal journey to understand her condition evolved into a lifelong commitment to ensuring that no one with LGMD faces that journey alone. From founding the Speak Foundation in an unexpected twist of fate to organizing groundbreaking scientific workshops that bring patients, researchers, industry, and the FDA to the same table, Kat has helped reshape how the LGMD community connects, advocates, and advances research. Guided by the belief that people with lived experience should have the loudest voice in the room, Kat continues to innovate on behalf of a diverse and growing rare disease community. Kat’s story is a reminder that progress begins with connection, shared experience, and the courage to speak up. Pantene is a third-party trademark. BridgeBio is not affiliated with or endorsed by Pantene or Procter & Gamble, and this reference is for storytelling purposes only.
48 total episodes available with 1 transcripts
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Frequently asked questions
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- What is On Rare?
<p><span>Honest conversations with the rare community, led by our hosts, David Rintell and Mandy Rohrig of BridgeBio.</span></p> - How often does this podcast release new episodes?
This podcast updates bi-weekly.
- Where can I listen to this podcast?
This podcast is available on 7 platforms including Apple Podcasts, Spotify, and more. You can also use the RSS feed directly.
- Does this podcast accept guests?
Yes, this podcast regularly features guests.
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