On Rare

31:55

On Rare Innovators: The Dream Merchant. Stan Crooke...

On Rare ·

2026/09/25

In this episode of On Rare: Innovators, David Rintell and Mandy Rohrig of BridgeBio, speak with physician, scientist, and drug developer Stan Crooke. Stan is the founder of the n-Lorem Foundation, a nonprofit focused on developing individualized medicines for people living with nano-rare genetic conditions and providing those medicines for life. Stan reflects on the experiences that shaped his career, from discovering his passion for science and medicine to pioneering antisense technology. He is

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35:49

“You Can Be Your Own Advocate” – Adrienne is Living...

On Rare ·

2026/08/31

Severe high blood pressure and an unexplained feeling of heaviness led Adrienne to the emergency room at age 26, where scans revealed cysts throughout her kidneys and ultimately led to a diagnosis of autosomal dominant polycystic kidney disease (ADPKD). With no family history of the condition, Adrienne learned that her ADPKD was caused by a spontaneous genetic mutation.In this episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Vice President of Patient

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37:58

"We're here for a good time, not a long time" –...

On Rare ·

2026/07/29

Excruciating pain after even brief sun exposure, years without answers, and a life-threatening liver crisis shaped Ashley's journey with erythropoietic protoporphyria (EPP), a rare genetic condition that causes severe photosensitivity. Although Ashley experienced symptoms beginning in early childhood, she wasn't diagnosed until after her 40th birthday, when she was hospitalized with advanced liver disease ultimately requiring a transplant. In this episode of On Rare, David Rintell, Head of Patient

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31:07

“He Gives Everything a Go” — Elliott, Living with...

On Rare ·

2026/06/03

Severe seizures, nonstop crying, and an exaggerated startle reflex marked the beginning of Elliott’s journey with molybdenum cofactor deficiency type A (MOCD type A), an ultra-rare inherited metabolic disorder that can cause devastating neurological damage shortly after birth. After initially being told that Elliott would likely not survive to school age, his family was offered access to an experimental treatment that changed the course of his life. In this episode of On Rare, David Rintell, Head of

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46:43

On Rare: Arielle's Long Diagnostic Journey

On Rare ·

2026/03/27

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

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38:52

On Rare Innovators: Kat Bryant Knudson and...

On Rare ·

2026/03/05

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

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36:41

Another Year of Purpose and Progress: On Rare Looks...

On Rare ·

2026/01/09

In our 2025 year-in-review episode, On Rare reflects on a year filled with meaningful conversations and powerful storytelling. Joined by David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, we revisit moments that moved us, challenged us, and reaffirmed the importance of listening to the voices of rare disease communities. This year also marked an exciting milestone with the launch of On Rare: Innovators, a new series spotlighting

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47:56

On Rare Innovators: Carmen Alonso y la fundación de...

On Rare ·

2026/01/08

En el episodio inaugural de On Rare: Innovadores, una nueva serie derivada de On Rare de BridgeBio, los presentadores David Rintell, director de abogacía de pacientes de BridgeBio, y Mandy Rohrig, directora sénior de abogacía de pacientes de BridgeBio, presentan a los oyentes a las personas que están transformando la comunidad de enfermedades raras a través de la defensa de los derechos, la compasión y la acción. La serie comienza en Gijón, España, con Carmen Alonso, fundadora de la Fundación ALPE,

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43:41

On Rare Innovators: Nasha Fitter is Redefining the...

On Rare ·

2025/12/10

In this episode of On Rare Innovators, Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, and David Rintell, Head of Patient Advocacy at BridgeBio, talk with Nasha Fitter, a parent, entrepreneur, and rare disease leader whose determination was reshaped the day her daughter Amara was diagnosed with FOXG1 syndrome. Drawing on a career defined by bold pivots and purpose-driven problem solving, Nasha is challenging long-held assumptions about what small, rare disease communities can

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39:41

"It’s good to be alive." Greg is living with LMNA...

On Rare ·

2025/11/06

Greg’s journey with LMNA cardiomyopathy, a rare inherited heart condition, began in high school when he experienced sudden episodes of rapid, irregular heartbeats during track practice. The cause remained a mystery for years, leading to misdiagnoses and untreated disease progression. During that time, Greg faced life-threatening arrhythmias and required several implanted devices before finally receiving a heart transplant. That experience, and the challenges that came before it, ultimately inspired

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41:34

On Rare Innovators: “The Love You Give, You Receive...

On Rare ·

2025/10/10

In the inaugural episode of On Rare: Innovators, a new sister series of On Rare from BridgeBio, hosts David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, introduce listeners to the changemakers reshaping the rare disease community through advocacy, compassion, and action. The series begins in Gijón, Spain with Carmen Alonso, founder and longtime leader of the ALPE Foundation, who has dedicated her life to improving care and

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39:26

“I’m still very grateful for the life that I’ll...

On Rare ·

2025/09/04

Before she turned eight, Cerys had already faced two diagnoses, only one of which she truly understood. While being diagnosed with celiac disease as a child, unusually high CK levels in her blood pointed to a deeper issue: limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9). In this episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Cerys, a 23-year-old living in Wales, about living

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29:32

“It’s important to stay connected” Daniel is living...

On Rare ·

2025/06/26

Seizures, sleepless nights, and mysterious white patches on his skin marked the beginning of Daniel’s journey with Tuberous Sclerosis Complex (TSC). Diagnosed at age 6, Daniel faced a childhood filled with MRIs, EEGs, and specialist visits, often requiring cross-country travel for coordinated care. In this moving episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Daniel, a 31-year-old

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40:24

“We just thought we were clumsy”. Katie and Allie are...

On Rare ·

2025/04/25

Katie and Allie’s story began in childhood with unexplained clumsiness and subtle symptoms that intensified over time. After years of searching for answers, Katie was diagnosed with late-onset Tay-Sachs (LOTS), a rare neurodegenerative disease. Further testing confirmed her twin sister Allie’s diagnosis as well. Despite facing daily challenges ranging from mobility issues to emotional strain, the sisters have become passionate advocates, raising over $1 million for research and awareness. With

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39:56

"We say it all the time: We're lucky." Philip is...

On Rare ·

2025/03/25

Philip’s journey with ATTR began with unexplained weight loss and gastrointestinal issues that puzzled doctors for years. Despite seeing multiple specialists, his condition remained undiagnosed until a physician at Johns Hopkins finally connected the dots, confirming ATTR. By then, Philip had lost 60 pounds and was on the brink of survival.In today’s episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio Gene

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42:07

“There’s always somebody to fight for.” Kady’s son...

On Rare ·

2025/02/18

When Julien was just 6 weeks old, Kady knew something wasn’t right. Despite more than 16 doctors insisting Julien was fine, Kady trusted her instincts and fought for answers—refusing to leave the hospital until the right tests were done. That persistence led to a life-changing diagnosis: a rare genetic form of hypoparathyroidism. Julien’s specific mutation is so unique that he is the only known case in the world. In today’s episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio,

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37:06

Another year of incredible conversations! On Rare...

On Rare ·

2025/01/03

In our final episode of 2024, On Rare looks back at highlights from the rewarding and rare conversations with our exceptional guests and David Rintell, Global Head of Patient Advocacy at BridgeBio and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy. We listened, we learned, we laughed, and we cried. We are deeply grateful to all of our guests. Join us for a look back at 2024 and don’t forget to subscribe to learn more from our guests in 2025.

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33:45

“When numbness of the hands is a window to the...

On Rare ·

2024/12/09

Charles, a recently retired cardiologist of 53 years, speaks with David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, about how his unexpected early diagnosis of ATTR-CM likely impacted the trajectory of his disease. Dr. Jonathan Fox, President and Chief Medical Officer of cardiorenal programs at BridgeBio, explains how ATTR affects the heart and peripheral nervous system, and the importance of early diagnosis. For years,

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39:37

“You can do everything that you want to do.” Erin is...

On Rare ·

2024/10/29

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 short stature but that she could do everything she wanted to do, just maybe in a slightly different way.Erin shares her

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45:13

“I have 2I, but I am not 2I.” Misty’s Journey Living...

On Rare ·

2024/10/03

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 connected to LGMD2I/R9 and shares the many frustrations and significant challenges that resulted from her delayed diagnosis

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