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...

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...

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 that Vayle was not meeting developmental milestones at 3-4 months old. Despite initial reassurance from her pediatrician, Dawn’s maternal intuition proved correct, leading to a diagnosis of Canavan...

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, the misdiagnosis he experienced, and his eventual diagnosis at the Cleveland Clinic in Abu Dhabi. While the diagnosis was a relief it was also difficult to accept and took an emotional toll on him...

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 helped her to understand the diagnosis. Although Alex is a medical professional, she had never heard of this condition, and the many unknowns of this new diagnosis left Alex feeling scared. However, all...

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 helped her to understand the diagnosis. Although Alex is a medical professional, she had never heard of this condition, and the many unknowns of this new diagnosis left Alex feeling scared. However, all...

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 doctor’s visit led to him, within hours, to undergoing a heart transplant. Though the surgery was successful, Eric describes his complex recovery from the transplant. Age, old sports injuries, and lingering...

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, riding horses and working on his 20-acre property when he began to have issues which he now attributes to ATTR. Eric’s diagnostic journey took 14 years and as the disease progressed, he experienced...

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 disease impacts the entire family, and this is particularly true for rare siblings. Due to the extra care needed by a child living with a rare condition, rare siblings may sometimes miss out on time or...

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 who "get it" and how this feeling of belonging changed everything for her. As Effie explains, “In this community of rare disease families, every story matters, every effort counts, and every heart is...

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 community. Effie’s son, Ford, was born with CTNNB1 syndrome, an extremely rare genetic condition. Isolated and trying to navigate her new life as a rare mom, Effie stumbled across Two Disabled Dudes and...

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 highlights from the year. We listened, we learned, we laughed and we cried. Join us for a look back at 2023 and don’t forget to subscribe to learn more from our guests in 2024.

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 psychiatrists, before a pediatric dermatologist diagnosed him at six years old. The symptoms of EPP are often invisible, which can make diagnosis quite difficult. With vulnerability and clarity, Jay explains that...

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 fear of facing the unknown of a progressive neuromuscular disease.   Dan describes the challenges of traveling, living alone and developing the constant fear of falling. Fiercely independent, Dan is...

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, or hours beyond 32 seconds, for Brady, could result in intense, prolonged pain, which would require hours or days in darkness to recover. Kristen, Brady’s mother, shares with David Rintell, Head of...

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 native kidneys which were not removed during the initial surgery and issues with polycystic liver disease. In the 11 years following, Anne endured an operation to remove her native kidneys, followed...

Title: “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, her father died at 46 of ADPKD related kidney failure, dialysis, and kidney...

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. Without additional explanation, she was told that LGMD2I would keep her from having children. For years, Lacey lived in denial. Despite the limitations of her disease, she charged ahead with her...

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 episode, Kristen shares how she has dealt with health issues, overcame adversity and even published her story in the book, Little Legs, Big Heart. She explains that achondroplasia isn’t just about height –...

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 shares how she and her family have supported Brent as he has stubbornly and victoriously succeeded in giving his valedictorian speech in high school, attended community college, and started a local...

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 shared experience and how they continue to offer support to others who have experienced an ALS diagnosis. Listen to part one to hear Rachel Groth, Ph.D., vice president and head of neuroscience research...

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 brain and spinal cord.   Rachel Groth, Ph.D., vice president and head of neuroscience research at BridgeBio, provides an overview of ALS. She explains how this devastating disease is characterized by...

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 care of a baby who is fragile due to adrenal insufficiency. The first two weeks of Bella’s life were frightening, as her parents tried to get the care that she needed and learn how to care for her at...