# On Rare: Arielle's Long Diagnostic Journey

Page: https://stenobird.com/podcast/on-rare-5037493/on-rare-arielle-s-long-diagnostic-journey
Text version: https://stenobird.com/podcast/on-rare-5037493/on-rare-arielle-s-long-diagnostic-journey.md
Podcast: [On Rare](https://stenobird.com/podcast/on-rare-5037493)
Published: 2026-03-27T18:55:45+00:00
Episode link: https://onrarebridgebio.podbean.com/e/on-rare-arielles-long-diagnostic-journey/
Audio file: https://mcdn.podbean.com/mf/web/6ptb7qv4v2p3qfuq/On_Rare_ADH1_Arielle_198fc4.mp3
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JSON: https://stenobird.com/v1/public/podcasts/on-rare-5037493/episodes/on-rare-arielle-s-long-diagnostic-journey
Duration seconds: 2803

## Resource

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 p…

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## Transcript

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