On Rare: Arielle's Long Diagnostic Journey

About this episode

Arielle shares her long journey with autosomal dominant hypocalcemia type 1, detailing the challenges of diagnosis and advocacy for herself and her son.

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…

People in this episode

Hosts: David Rintell, Mandy Rohrig

Guest: Arielle

Topics covered

• diagnostic journey
• genetic conditions
• patient advocacy
• health challenges
• family health
• seizures

Keywords

• ADH1
• calcium levels
• diagnosis
• seizures
• patient advocacy
• genetic testing
• healthcare
• hypoparathyroidism

Mentioned in this episode

Organizations: BridgeBio

Products: autosomal dominant hypocalcemia type 1, hypoparathyroidism

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