PODCAST · science
On Rare
by BridgeBio Pharma
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.
Episodes
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“You’re Still a Person; You Still Have Feelings” – Gwyn is Living with Achondroplasia
At 27, Gwyn is a college student pursuing a career as a dietitian and the host of A Little View, a podcast that creates space for candid conversations within the dwarfism community and beyond. Her interests are deeply informed by her own experiences growing up with achondroplasia, including...
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On Rare Innovators: The Dream Merchant. Stan Crooke and the founding of n-Lorem
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...
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“You Can Be Your Own Advocate” – Adrienne is Living with ADPKD
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,...
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"We're here for a good time, not a long time" – Ashley is Living with EPP
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...
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“He Gives Everything a Go” — Elliott, Living with MOCD Type A
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…
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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...
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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)...
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Another Year of Purpose and Progress: On Rare Looks Back at 2025
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,...
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On Rare Innovators: Carmen Alonso y la fundación de ALPE - "El amor que das, lo recibes de vuelta"
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...
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On Rare Innovators: Nasha Fitter is Redefining the Rare Disease Playbook – “Who says we can’t do this?”
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...
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"It’s good to be alive." Greg is living with LMNA cardiomyopathy
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...
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On Rare Innovators: Carmen Alonso and the Founding of ALPE - "The Love You Give, You Receive Back"
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...
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“I’m still very grateful for the life that I’ll have.” Cerys is living with Limb-Girdle Muscular Dystrophy type 2i/R9
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…
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“It’s important to stay connected” Daniel is living with Tuberous Sclerosis Complex (TSC)
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…
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“We just thought we were clumsy”. Katie and Allie are living with late-onset Tay-Sachs disease
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...
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"We say it all the time: We're lucky." Philip is living with hereditary transthyretin amyloidosis (ATTR)
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…
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“There’s always somebody to fight for.” Kady’s son Julien is living with Autosomal Dominant Hypocalcemia Type 1 (ADH1)
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...
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Another year of incredible conversations! On Rare celebrates our 2024 podcast guests!
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…
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“When numbness of the hands is a window to the heart,” Charles is living with Transthyretin amyloidosis cardiomyopathy (ATTR-CM).
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....
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“You can do everything that you want to do.” Erin is living with hypochondroplasia.
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...
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“I have 2I, but I am not 2I.” Misty’s Journey Living With LGMD2I/R9
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...
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“They told me to go home and love my child” Dawn’s daughter Vayle is living with Canavan Disease.
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…
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“I chose to reinvent myself.” Sean is living with hereditary transthyretin amyloidosis (ATTR).
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,...
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“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.
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…
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“We Only Live in This Moment.” Part Two of a two-part conversation with Eric, who lives with Transthyretin Amyloidosis (ATTR).
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…
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“Accentuate the Positive.” Eric is living with Transthyretin Amyloidosis (ATTR).
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,...
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“Having a brother with a rare condition has changed who I am. My family has a big heart because of my brother.”
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...
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“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.
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…
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“I didn’t know I was part of a rare community until I started listening to the Two Disabled Dudes podcast.” Effie is the mother of Ford, a boy living with CTNNB1 syndrome and host of Once Upon a Gene.
Effie Parks, a rare mom, a patient advocate, a podcaster, and host of “Once Upon a Gene” joins David Rintell, Head of Patient Advocacy at BridgeBio to share her story. Recorded during the 2023 Global Genes Conference in San Diego, Effie talks about her journey into motherhood and into the rare...
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We listened, we learned, we laughed and we cried! On Rare celebrates the incredible conversations of 2023!
In our final episode of 2023, On Rare looks back at the wonderful, rare conversations with our extraordinary guests and David Rintell, Global Head of Patient Advocacy at BridgeBio. Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy and host of On Rare, walks us through…
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“In some ways, the sun has been my mortal enemy.” Jay is living with erythropoietic protoporphyria (EPP).
Jay joins David Rintell, Head of Patient Advocacy at BridgeBio to talk about his experience of living with erythropoietic protoporphyria (EPP). When Jay was very young, it was difficult to receive a diagnosis for his condition. It took a series of visits to various doctors, including…
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“Improvise. Adapt. Overcome.” Dan is living with limb-girdle muscular dystrophy, type 2I/R9 (LGMD2I/R9).
Dan joins David Rintell, Head of Patient Advocacy at BridgeBio to share the story of his long diagnostic odyssey and how ultimately a cancer scare attributed to his LGMD2I/R9 diagnosis. Dan shares that, during this time, he felt relief receiving a diagnosis, but it was quickly paired with the…
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“People with EPP are shadow jumpers.” Brady is living with erythropoietic protoporphyria (EPP).
32 seconds. That’s how much time Brady could tolerate exposure to light on his skin before the onset of deep burning, itching pain. Brady is living with erythropoietic protoporphyria, EPP, a rare inherited disorder that causes the skin to become painful when exposed to sunlight. Seconds, minutes,...
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“Life after the transplant wasn’t straightforward.” Anne is living with autosomal dominant polycystic kidney disease (ADPKD)
Anne and Mike continue their conversation with David Rintell, Head of Patient Advocacy at BridgeBio, in part two of our autosomal dominant polycystic kidney disease (ADPKD) episode. Anne describes her recovery from the first kidney transplant along with the complications she attributes to her two...
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“We named the new kidney - Bean.” Anne is living with autosomal dominant polycystic kidney disease (ADPKD)
Anne joins David Rintell, Head of Patient Advocacy at BridgeBio to talk about how autosomal dominant polycystic kidney disease (ADPKD) has impacted her and the lives of her family members. ADPKD weaves through the branches of Anne’s family tree for generations. When Anne was only six years old…
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“Love isn’t love till it’s given away.” Determination has helped Lacey fulfill her dreams, but it hasn’t stopped the progression of LGMD2I/R9.
Lacey joins David Rintell, Head of Patient Advocacy at BridgeBio to talk about how LGMD2I/R9 has impacted her life. When Lacey was 16, she was diagnosed with a progressive neuromuscular disease, known as LGMD. The only question she had for the doctor was whether she could one day become a mother....
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“You can brush it off or you can speak up for yourself” Kristen has been advocating for herself and others who live with achondroplasia since she was six years old.
Kristen joins David Rintell, Head of Patient Advocacy at BridgeBio to tell her personal story about living with achondroplasia and how she became an advocate at just six years old. By third grade, Kristen was speaking to classrooms about what it is like to live with achondroplasia. In the…
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“When life gives you lemons, make lemon gelato!” Brent is disabled by PKAN, a rare neurodegenerative disease, yet supported by his family he is making many of his dreams come true.
Veronica joins David Rintell, Head of Patient Advocacy at BridgeBio to tell her son Brent’s story. When Brent was nine, his family discovered that he had a rare genetic disease called Pantothenate Kinase-Associated Neurodegeneration (PKAN), a condition without any available treatments. Veronica...
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“I learned to meditate.” Holly and Beth learned to take care of themselves while supporting their families through their husbands’ ALS diagnoses.
In part two of our series on ALS, amyotrophic lateral sclerosis, Holly and Beth, two women whose husbands died from ALS, (also known as Lou Gehrig’s disease) continue their conversation with David Rintell, head of patient advocacy at BridgeBio. They describe the bond they developed over their...
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“They would go to see their doctors and tell them everything was fine, but everything was not fine.” Carl and Chris struggled in their own ways to accept their ALS diagnosis.
Holly and Beth, two women whose husbands died from ALS, amyotrophic lateral sclerosis, (also known as Lou Gehrig’s disease) join David Rintell, head of patient advocacy at BridgeBio to share their experience. ALS is a progressive and fatal neurodegenerative disease that affects nerve cells in the...
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“With CAH, you’re always planning and worried.” Jihan’s two daughters are living with congenital adrenal hyperplasia (CAH).
The birth of Jihan’s first daughter, Bella, was traumatic. She and her husband were totally unprepared for the diagnosis of congenital adrenal hyperplasia (CAH) and struggled with the way the news was delivered to them. Their health care providers failed to provide adequate instructions about the...
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“ADH1 doesn’t have me. I have ADH1” Jessica is living with autosomal dominant hypocalcemia type 1 (ADH1).
At birth, Jessica’s physician noticed she had low levels of calcium. Genetic testing later confirmed that she had autosomal dominant hypocalcemia type 1 (ADH1) with a calcium receptor (CaSR) gene mutation. Jessica had complications due to ADH1 quite early in life. Before Jessica started...
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”He loves curse words! He’s a typical 15-year-old boy who is living with Canavan disease.” Dylan’s parents talk about raising their happy son.
In this month’s episode of On Rare, David Rintell speaks with Cliff and Noreen, the parents of Dylan, a playful, adopted, 15-year-old living with Canavan disease. It’s a heartwarming, funny and poignant conversation about Dylan’s life, the challenges of providing constant care for a severely...
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”Mom’s just tired. I was in this daze of denial.” A teenager grapples with her mother’s diagnosis of cholangiocarcinoma.
In this month’s episode of On Rare, David Rintell speaks with Alex, 18-year-old whose mother is living with cholangiocarcinoma. It’s a moving conversation about a teenager facing the challenges of everyday life while also handling the possibility of life without her mother. We hear what it is…
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I’m a salt waster, 1 in 20,000. You don’t let it run you, you run it.
In this month’s episode of On Rare, David Rintell speaks with Erica, who is living with congenital adrenal hyperplasia (CAH). Erica describes what it has been like to live with CAH and how she decided to manage her condition and live life on her own terms. With humor and honesty, she explains how...
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“He’s a fighter and takes on whatever is thrown his way.“ Parker is living with tuberous sclerosis complex (TSC).
Andrea and Ryan’s son, Parker, is living with tuberous sclerosis complex (TSC). During an ultrasound in the thirty-fifth week of Andrea’s pregnancy, her doctor discovered that Parker had a cluster of tumors in his heart. These tumors, known as rhabdomyoma, were a sign that he might have TSC. Five...
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“Hi, I’m nine years old. I have achondroplasia. Would you like to play?” A resilient, athletic child lives with achondroplasia
Inês’ 9-year-old daughter, Clara, is living with achondroplasia. In this episode of On Rare, Inês describes what it was like to learn that her daughter has achondroplasia. She describes the steps she took to get Clara the medical care she needed in the early years of her life and how, in the…
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“I am not going to let cancer stop me.” Driven and determined while living with cholangiocarcinoma
In her 20s, Chaundra believed she was living the dream with a graduate degree and a new, exciting job. Unfortunately, at the age of 29, results from a routine blood test led to a diagnosis of cholangiocarcinoma. Six years later, Chaundra has endured chemotherapy treatments, surgeries, biopsies,...
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“I just want new skin, Mom.” Courage in the face of a painful life with epidermolysis bullosa (EB)
Brady is a five-year-old who is living with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin condition. His mother, Eileen, describes what it was like to discover that Brady has RDEB and tells us how she is both the mother of a brave, happy little boy and the nurse who…
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ABOUT THIS SHOW
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.
HOSTED BY
BridgeBio Pharma
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Frequently Asked Questions
How many episodes does On Rare have?
On Rare currently has 52 episodes available on PodParley. New episodes are automatically indexed when they're published to the podcast feed.
What is On Rare about?
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...
How often does On Rare release new episodes?
On Rare has 52 episodes. Check the episode list to see recent publication dates and frequency.
Where can I listen to On Rare?
You can listen to On Rare on PodParley by clicking any episode. We provide an embedded audio player for direct listening, and you can also subscribe via your preferred podcast app using the RSS feed.
Who hosts On Rare?
On Rare is created and hosted by BridgeBio Pharma.
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