On Rare

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 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.

“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 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 although he may look like everyone else, part of his daily mental energy is utilized managing and planning how to limit his exposure to the sun. Beyond the physical pain, Jay describes the deeper psychological impact of living with an isolating condition which forces him to avoid the sun while others seek it.

Bhavik Shah, Vice-President of Research for Genetic Medicine at Portal, a BridgeBio affiliate working on an investigational treatment for EPP, provides a medical overview of the condition. He explains that EPP is an inherited cutaneous porphyria characterized by extremely painful, non-blistering photosensitivity which is often first noted in childhood, occurs acutely after sunlight exposure and often causes residual skin damage.

“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 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 concerned about the future. Living with a progressive condition means that you are always forced to adapt and plan – as daily life gets harder and harder. Dan talks about the importance of connecting with others who are living with the same condition and how he looks for the blessings in life. Even though the prognosis of LGMD2I/R9 is scary, Dan remains hopeful that at some point there may be something that will help him with the progression of his disease.  

Divya Reddy, M.D., the Medical Director at ML Bio Solutions, a BridgeBio company, describes how LGMD2I/R9 (also called “LGMD R9 FKRP-related” in the new proposed nomenclature) is an inherited disease caused by a mutation in the FKRP gene. The FKRP gene is involved in helping muscles build a glycoprotein called alpha-dystroglycan. When the gene doesn’t work correctly, it causes damage to muscle tissue and over time develops into scar-like, fibrotic tissue. As fibrotic tissue overtakes healthy muscle tissue, muscle strength and function declines, and LGMD2I/R9 patients lose the ability to perform routine daily activities unassisted – such as walking or standing up.

To learn more about LGMD2I/R9 and the LGMD community visit the LGMD Awareness Foundation, the CureLGMD2i Foundation, and The Speak Foundation.

“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, 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 Patient Advocacy at BridgeBio, how Brady was diagnosed, and how he manages the effects of the condition. EPP affects every aspect of Brady’s life, forcing him to calculate his cumulative exposure to sunlight while outdoors, through windows, or from reflections. Now 18-years-old, Brady has creatively learned how to navigate the condition through protective clothing and jumping from shadow to shadow.

Morgan Paull, Head of Strategy at Portal, a BridgeBio program working on EPP, provides a medical overview of the condition. He explains that EPP is caused by the deficiency of an enzyme called ferrochelatase. When there is not enough ferrochelatase, the body is unable to convert the compound protoporphyrin into heme, a molecule that enables blood to carry oxygen. As a result, protoporphyrin builds up in the blood, skin, and liver. Sunlight exposure activates the protoporphyrin, generating a reaction that leads to inflammation and severe pain. Accumulated protoporphyrin can also cause liver damage leading to liver disease.

“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 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 by a double organ transplant, giving her both a new liver and kidney. Her first kidney transplant was generously gifted by a friend. However, Anne received her new liver and second kidney from a deceased donor, a distinctly different process. Anne and Mike express their gratitude for their good fortune while acknowledging the courage of the donor family to make the decision to give an extension on life to another human, when their loved one could no longer live.

 

Check out Anne and Mike's journey in their video, "The Search and the Gift" https://vimeo.com/33405248 . For more information about organ donation, visit http://donatelife.net/ 

 

To learn more about ADPKD, listen to Part 1 to hear Rachel Groth, Ph.D., Vice President of Research at BridgeBio X, explain why ADPKD develops, how it affects the kidneys, what complications may arise from ADPKD and why individuals with end-stage kidney disease receive dialysis or kidney transplants.

“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 transplantation. Two of Anne’s five siblings have ADPKD. One had a successful kidney transplant, but another sibling died while on the waiting list for a new kidney. Anne wasn’t surprised by her ADPKD diagnosis at age 25 and was hopeful for a better outcome than experienced by her father and her sibling since she received the diagnosis at a younger age. Progress was not reassuring to Mike, Anne’s husband, when Anne’s kidney function declined to less than 30%. Anne needed a kidney transplant, and soon. Motivated to find a donor and save her life, Mike created a robust campaign to locate a kidney for Anne. After many months of social posts, connections, conversations, prayers, and a documentary, a donor was discovered – a perfect match. The surgery was much quicker than the campaign. Anne left the hospital with her new kidney, appropriately named “bean,” just three days after her surgery.

Rachel Groth, Ph.D., Vice President of Research at BridgeBio X, the company’s dedicated lab space focused on cutting-edge early research discovery, provides an overview of ADPKD, a genetic condition that causes small fluid-filled sacs called cysts to develop in the kidneys. She explains why ADPKD develops, how it affects the kidneys, what complications may arise from ADPKD and why individuals with end-stage kidney disease receive dialysis or kidney transplants.

“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. 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 life. She runs a business with her husband. She is a wife, mother, and foster parent. And in 2007, when she received the diagnosis of LGMD type 2I, she became an advocate for her LGMD2I community when she formed an LGMD2I Facebook group so that people with LGMD2I could connect and share information.

Anna Wade, Ph.D., Chief Operating Officer at ML Bio Solutions, a BridgeBio company, provides an overview of LGMD2I. She explains how LGMD2I, a neuromuscular disease, progresses and how it damages the muscles throughout the body.

“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 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 – there are other important quality of life concerns which she has learned to address, while also helping other families navigate the condition.

Anne Lee, Senior Director of Global Patient Advocacy at BridgeBio, provides an overview of achondroplasia, the most common form of dwarfism. She explains how achondroplasia affects a protein in the body called the fibroblast grown factors receptor 3 or FGFR3, which results in slowing down bone growth. Achondroplasia is the most common cause of disproportionate short stature, affecting approximately 55,000 people in the United States and European Union, including up to 10,000 children and adolescents with open growth plates. Anne talks about her work in patient advocacy and what she has learned by listening to people and families living with achondroplasia.