On Rare

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 living in Seattle, about growing up with TSC, the emotional toll of visible symptoms, and the stigma he faced from peers. He reflects on the cognitive and mood impacts of TSC, including OCD and outbursts, and how he often kept to himself to feel more accepted. Today, Daniel is an active advocate in the TSC community, emphasizing the importance of connection, representation, and finding support among those with shared experiences. As he puts it, “You have to find your people.” Che-Wei Chang, Principal Scientist at BridgeBio, presents a medical overview of Tuberous Sclerosis Complex (TSC), a rare genetic disorder marked by seizures and benign tumors throughout the body. TSC results from a spontaneous mutation in a single copy of the TSC1 or TSC2 gene, which normally inhibit mTOR, an enzyme that regulates cell growth. Loss of this inhibition leads to mTOR hyperactivation, leading to abnormal cell proliferation and tumors in the brain, kidneys, skin, and other organs. Diagnosis typically involves identifying tubers in the brain along with tumors in other organs and is confirmed through genetic testing. Treatments include mTOR inhibitors, which are effective against many TSC-related tumors, and anti-seizure medications, although drug resistance is common.

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 humor, grit, and the support of their family—especially their powerhouse mom—they continue to live fully and inspire the rare disease community. 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 Katie and Allie, who share their experience with late-onset Tay-Sachs. The episode explores how Tay-Sachs, typically diagnosed in childhood, can present in adulthood, the emotional toll of navigating a progressive rare disease, and the resilience of a close-knit sibling duo who've turned advocacy into action.   Diana Jussila, Director of Family Services at the National Tay-Sachs & Allied Diseases Association (NTSAD), provides essential insights into late-onset Tay-Sachs disease, a rare, progressive, neurodegenerative condition caused by mutations in the HEXA gene leading to deficiency of the Hex A enzyme. Without this enzyme, toxic substances accumulate in the brain and spinal cord, resulting in symptoms like muscle weakness, balance issues, speech difficulties, and psychiatric challenges. With no approved treatments and only supportive care available, community connection, advocacy, and ongoing research are vital lifelines for those living with late-onset Tay-Sachs disease.

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 Therapy, speak with Philip and his wife, Sally, who has helped to navigate the frustrating medical system, advocate for answers, and ultimately helped Philip receive life-saving IV nutrition. After years of uncertainty, Philip finally found an expert team with the knowledge, treatment, and community they needed. Philip and Sally share their story of perseverance, partnership, and hope for a brighter future. Dr. Adam Castaño, head of the Amyloid Prevention Program at BridgeBio, provides a medical overview of TTR amyloidosis (ATTR), a rare, progressive disease caused by misfolded transthyretin (TTR) proteins that form amyloid deposits in different parts of the body such as the heart, the peripheral nervous system, and the gastrointestinal tract. These deposits lead to debilitating symptoms including heart failure, neuropathy, and digestive issues, often mimicking common age-related conditions and possibly contributing to underdiagnosis. ATTR can be hereditary, but it also develops in the general population (this is called wild type). Advancements in non-invasive imaging and specialized protein staining have improved early detection, offering hope for better disease management.

When Julian was just 6 weeks old, Kady knew something wasn't right. Despite more than 16 doctors insisting Julian 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. Julian'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, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Kady, the mother of Julian, a 4-year-old boy living with ADH1. Managing his condition has been a daily balancing act, as too little calcium leads to painful, debilitating symptoms, while too much threatens his kidneys. Kady shares the emotional journey of raising a child with a rare disease, from relentless advocacy to empowering Julian with the knowledge to recognize and communicate his own symptoms.   Michael Collins, M.D., a research scientist at the National Institute of Health (NIH), provides a medical overview of Autosomal Dominant Hypocalcemia Type 1 (ADH1), a rare form of hypoparathyroidism that leads to low blood calcium levels. While most cases of hypoparathyroidism result from accidental gland removal during thyroid surgery, ADH1 is caused by genetic mutations. Often going undiagnosed until a child presents with severe symptoms, ADH1 is difficult to catch early since calcium levels are not part of routine pediatric screenings. The condition is also difficult to treat because standard calcium supplements, which alleviate ADH1 symptoms, can worsen kidney complications, increasing the risk of severe kidney stones and even renal failure. Treatment requires a delicate balance to avoid overcorrection and long-term kidney damage. Dr. Collins sheds light on the complexities of this condition and the challenges both patients and doctors face in managing it.

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.  

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, Charles suffered from numbness and tingling in both wrists and hands. Eventually, when the pain became so severe that operating a mouse for 10 to 15 minutes was difficult, he was referred to a hand surgeon who recommended carpal tunnel surgery. Preparing for the surgery, Charles recalled reading a medical journal article that indicated 10% of people who underwent carpel tunnel surgery had positive tissue biopsy indicative of ATTR-CM. He requested that his surgeon perform a biopsy and shortly thereafter received his diagnosis. The transition from doctor to patient was not easy for Charles. However, he feels fortunate to be a cardiologist, to have read and remembered the article, requested a biopsy, and received the diagnosis more quickly than many others who live with ATTR. “I have three passions: running, traveling, and teaching," Charles shared. The early diagnosis has allowed him to continue to live a full, active life, running nearly daily as he has for the past 45 years. Charles, now 86, continues to serve others, spending his retirement teaching and mentoring health care providers around the country about ATTR and volunteering for amyloidosis advocacy organizations.

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 diagnostic journey with hypochondroplasia in the third grade. Even though her diagnosis was upsetting to her, her friends and family never treated her any differently. She describes her decision to undergo limb-lengthening surgery, how she manages her condition, and discusses how her two sons navigate living with hypochondroplasia in very different ways. While there were times when Erin would have preferred to be just like everyone else, she has learned the value of embracing individuality and the importance of family and finding fulfillment in life. Elena Muslimova, Medical Director of the hypochondroplasia program at QED Therapeutics, a BridgeBio affiliate, provides a medical overview. She explains that hypochondroplasia is a rare genetic bone condition causing short stature with an average-sized trunk but shorter arms and legs. It often arises from de novo (spontaneous) mutations, yet it can also be inherited. Hypochondroplasia is typically diagnosed in children aged 2 to 5 years old. While short stature is the primary characteristic, individuals may experience other complications although the severity of these issues varies greatly among individuals.  

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. Despite noticing alarming symptoms as early as junior high school, Misty was dismissed by medical professionals for years. Finally, and only after both her younger twin sisters were diagnosed with LGMD2I/R9, Misty received her own genetic confirmation of LGMD2I/R9. She was 32 years old. Receiving her diagnosis was like an emotional tornado, and immediately, Misty feared that she may have passed LGMD2I/R9 on to her children. Throughout her journey, Misty has tried to hold on to the positives. She talks about the creative ways she has adapted to life with a progressive disease and emphasizes the importance of showing oneself grace and finding community.   Ada Lee, M.D., the Medical Director at ML Bio Solutions, a BridgeBio company, the program working on LGMD2I/R9 provides a medical overview. She explains that limb-girdle muscular dystrophy (LGMD) is an umbrella of diseases associated with progressive muscular weakness in the girdle muscles, some of the central muscles that support limbs. LGMD2I/R9 (also called “LGMD R9 FKRP-related”) is a genetic 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 people living with LGMD2I/R9 lose the ability to perform routine daily activities unassisted—such as walking or standing up. Because it is a rare disease that can have a variety of symptoms early on, many people with LGMD2I/R9 have prolonged pathways to diagnosis.   To learn more about LGMD2I/R9 and the LGMD community, visit the LGMD Awareness Foundation, the CureLGMD2i Foundation, and The Speak Foundation.

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 Disease during Vale's 6-month checkup. Dawn was told that Vayle might not live beyond the age of ten. Dawn recounts the emotional challenges of adapting to the diagnosis, while learning how to manage Vayle's increasingly complex medical and care needs. Even with the expectation of a shortened life, Dawn emphasizes the profound love and quality of life she and Vayle share, underscoring her deep commitment to making Vayle's life as comfortable and joyful as possible. Dawn hopes that telling Vayle's story can bring awareness to this rare disease and help other families going through similar circumstances. This, she hopes, will be part of Vayle's legacy. Dr. Dominic Gessler, a physician and researcher who has extensively studied Canavan Disease explains that Canavan Disease is an autosomal recessive genetic disorder caused by mutations in the ASPA gene, leading to the accumulation of a chemical called N-acetyl-L-aspartic acid, or NAA, throughout the body. The accumulation of NAA is thought to damage the white matter in the brain.  Symptoms of Canavan disease become apparent as children fail to meet developmental milestones. As always, questions about your healthcare and the healthcare of your family should be discussed with your physician.

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 and those around him. Sean has found this to be a common experience of many diagnosed with ATTR. Since Sean's form of ATTR is hereditary, various members of his family have also been tested. Sean also highlights the positive changes in his life, including meeting his wife, Robin, discovering a talent for drawing, and becoming a public speaker about ATTR. Jonathan Fox, President and Chief Medical Officer of cardiorenal programs at BridgeBio, joins us again to give a medical introduction to ATTR. On this episode, Jonathan highlights the differences of the ATTR T80 variant. Previously, we learned that ATTR amyloidosis is caused by the dissociation of a protein called transthyretin, or TTR, that changes its shape and forms into fibrous clumps. These clumps of misshapen protein are deposited into various organs and peripheral nerves, including the heart, which can cause them to function abnormally. Jonathan explains the possible origin of the T80 variant and how the T80 variant symptoms can differ from ATTR-CM.   To learn more about living with amyloidosis visit Mackenzie's Mission, www.mm713.org

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 these fears were put aside when she held Hudson for the first time. At five days old, Hudson had breathing problems and Alex had to perform CPR on him. Hudson was later diagnosed with severe obstructive sleep apnea and needed to be on oxygen therapy. Alex describes the learning curve that she and her husband experience as they learned to care for Hudson and anticipate some of his early medical needs. Now at 20-months-old, Hudson is a happy little boy who loves to read, walk, and babble, and is adored by his older sister. Teja Reddi, Ph.D., a Senior Director of Strategy and Operations of Skeletal Dysplasias at BridgeBio, explains that although hypochondroplasia is a milder form of dwarfism than achondroplasia, the condition can cause some medical complications. Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Teja also talks about the challenges of underdiagnosis and the hope for more research to improve the lives of people with hypochondroplasia. Please note, the views and opinions expressed in this episode of On Rare are those of Alexandra and do not necessarily reflect the official policy or position of BOLDSCIENCE.

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 ATTR symptoms all contributed to a year-long recovery process, which included a two-week stay in the hospital, followed by an acute rehabilitation facility, a few weeks in a hotel, and several more months of recovery at home. Eric ends the conversation by stressing the importance of community – strong connections with other people were not only crucial to his recovery, but also opened doors for mentorship, activism, and his current involvement with the Northern California Amyloidosis Support Group.

Eric joins David Rintell, Head of Patient Advocacy at BridgeBio and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapyin 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 two carpal tunnel surgeries, and several other cardiac procedures. In fact, by the time he was diagnosed, Eric could not walk the length of his home (60 feet) without getting out of breath. Four years after his diagnosis he received a heart transplant. Despite the difficulties, Eric highlights the positives of this diagnosis and how living with ATTR and engaging with the ATTR community has taught him to be intellectually curious, empathetic, grateful for the care he has received and happy to be alive.  Jonathan Fox, President and Chief Medical Officer of cardiorenal programs at BridgeBio. Jonathan explains the causes of ATTR and what happens to people living with it. ATTR amyloidosis is caused by the dissociation of a protein called transthyretin, or TTR, that changes its shape and forms into fibrous clumps. These clumps of misshapen protein are deposited into various organs and peripheral nerves, including the heart, which can cause them to function abnormally.

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 attention from their parents. Rare siblings often contribute to caregiving in their families. Though being a rare sibling can be challenging, rare siblings are often more mature, empathic, and aware of what others around them are going through than typical children their age.   Marina, a nineteen-year-old, is a sister to Sammy, who is living with Limb-girdle Muscular Dystrophy Type 2I/R9 (LGMD2I/R9), a rare condition caused by changes in the FKRP gene and is associated with weakness and wasting of arm and leg muscles. In her conversation with David and Mandy, Marina describes what it was like to first learn about LGMD2I/R9 and what it was like to watch Sammy live with a progressive muscle wasting disease. Marina speaks with love as she describes their bond as sisters and how she's looked out for Sammy. When Sammy started going to the same high school, Marina took calls from Sammy or her teachers anytime Sammy fell or needed other assistance. Even though Marina is now miles away at college, she's always thinking about Sammy and hoping that she's getting help at school, if she needs it.   Michael, a thirteen-year-old, is the eldest of six siblings. Two of his brothers are living with Canavan disease, a genetic neurodegenerative disorder. Michael is wise beyond his years. He has a special ability enabling him to understand his brothers, who are non-verbal but always trying to communicate. Michael acknowledges that it is sometimes hard and there have been times when he has wanted more attention from his parents, but he also recognizes that he wouldn't be who he is today without the challenges he's experienced. Michael shares his personal experience that that sometimes a rare sibling might seem fine but not truly doing well.   Sydney, a nineteen-year-old, is a triplet and also the younger sister of Sean who is living with achondroplasia, the most common cause of dwarfism. Sometimes when she was younger, Sydney would get upset by the attention Sean received and she would miss her parents as they would be away supporting Sean through surgery. As she has grown up, Sydney has realized that it was necessary for her family to put extra attention and resources into supporting Sean and she is proud of who he has become. She's inspired by his mantra, “Heart over height, 24/7.”   These rare siblings are incredibly resilient. They demonstrate that living with challenges or adversity is not only not harmful, but it is the cause for a lot of personal growth. For additional information or resources for rare siblings visit The Courage Parents Network  https://courageousparentsnetwork.org/topics/siblings   or the Rare Siblings Project, http://raresiblingsproject.org/     To learn more about LGMD2I/R9 and the LGMD community visit the CureLGMD2i Foundation, https://curelgmd2i.com/about/   LGMD Awareness Foundation, https://www.lgmd-info.org/    and The Speak Foundation  https://thespeakfoundation.com/

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 connected. We are stronger together and are empowered by the love that guides us.” She describes her secret to conducting a compelling interview and reminds us to remember who we are here to serve – patients and caregivers.   To learn more about Effie,  her son Ford, his amazing laugh and CTNNB1 go back and listen to the first episode of the two-part series.

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 on first listen, realized she now had a community who understood her experiences. With this new understanding, Effie dove into the world of advocacy. CTNNB1 Syndrome is the result of a change to the CTNNB1 gene, which contributes to production of a protein called beta-catenin that has a role in cellular growth and development. While symptoms experienced by individuals with CTNNB1 Syndrome vary and are unique to each person, many individuals experience cognitive challenges, speech, swallowing or feeding difficulties, behavioral issues, motor developmental delays, or impaired vision. In the first episode of this two-part series, Effie shares the story of Ford's birth and diagnosis, the founding of her rare community, and her personal journey to becoming a patient advocate and podcaster. Her mission is to learn, lift the voices of the rare community, connect people to resources and to leave the world better than she found it. *Reference: https://www.curectnnb1.org/ctnnb1-syndrome/

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 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.

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.

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.

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.

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 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.

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.

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.

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 gelato business.   Mallory Harden, Ph.D., Director of Business and Operations at CoA Therapeutics, a BridgeBio company, provides an overview of PKAN. She explains how PKAN is a progressive and fatal neurodegenerative disease which is often diagnosed in childhood. As it progresses, people are faced with uncontrolled movements, walking and balance challenges, and cognitive changes.

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 at BridgeBio, provide an overview of ALS, a fatal neurodegenerative disease that affects nerve cells in the brain and spinal cord.

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 selective and progressive loss of motor neurons, which are cells in the body and brain controlling muscle movement. As the disease progresses, it results in paralysis of nearly all skeletal muscles.

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 home. Twelve years later, Jihan's youngest daughter, Alessia was also born with CAH. This time they were prepared. Adam Shaywitz, endocrinologist, and Chief Medical Officer at BridgeBio Gene Therapy provides an overview of CAH. He describes how CAH affects the adrenal glands, two tiny walnut sized organs which rest on top of the kidneys. The adrenal glands produce critical hormones which regulate blood pressure and play a critical role in how the body manages stress. With too little of these important hormones, patients can go into adrenal crisis, which can be life threatening.

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 kindergarten, she had painfully passed her first kidney stone. Fiercely protective and attentive, Jessica's mother quit her job to take care of Jessica full-time. She researched and provided Jessica with the latest cutting-edge treatments.  Despite the challenges of living with ADH1, Jessica has done well. She is a hopeful, new mother who is ready to do whatever it takes to take care of her child. She has a graduate degree and works to provide mental health care for her clients. Mary Scott Roberts, M.D., senior director of clinical development at BridgeBio Cardiorenal, joins to provide an overview of ADH1. She describes how low or elevated levels of calcium can cause muscle cramps, brain fog, fatigue, seizures, and other symptoms in individuals living with ADH1.

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 disabled child and the joy he brings them. As parents of a child with an ultra-rare, fatal genetic condition, Cliff and Noreen live day by day. As Cliff explains, “We focus on what we have now with Dylan and the good times.”

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 like for this young woman to watch her mother struggle to receive a diagnosis, finally learn she has cholangiocarcinoma, and seek treatment options.

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 she's gone from being a rebellious child to a leader and advocate in the CAH community. Kamal Bharucha, vice president of clinical development at BridgeBio's affiliate, Adrenas, joins the conversation to provide an overview of the genetic disease and explain how it is diagnosed and how it impacts the body.

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 days after he was born, Parker had heart surgery to remove these tumors and his diagnosis was confirmed. Living with TSC means that Parker and his parents never know when he might have seizures, where new tumors might appear, how these tumors might affect him or what other symptoms he might experience in the future. “Our job is to help prepare Parker for the hurdles he might encounter living with TSC,” Ryan explains. Clayton Beard, Ph.D., Chief Scientific Officer at BridgeBio Gene Therapy, joins the conversation to provide an overview of TSC. He describes the many challenging symptoms that can come with TSC and he explains how TSC can result from either a spontaneous mutation or it can be inherited as an autosomal dominant trait.

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 midst of this stress, she remembered to enjoy being a mother to her newborn daughter. Finally, she tells us how she has watched Clara become a resilient, athletic child who has learned to compete against herself in a world that often caters to taller individuals. Daniela Rogoff, VP of clinical development at BridgeBio's affiliate company QED Therapeutics, joins the conversation to provide an overview of achondroplasia and to explain how it affects bone growth and the body overall.

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, multiple clinical trials and much more. Despite her diagnosis, Chaundra is determined and driven. She has taken on new professional opportunities in different cities, has been promoted in her work, fallen in love, and even, run for political office and won.” She tells David Rintell, head of patient advocacy at BridgeBio, “I am not going to let cancer stop me.”   Dr. Carl Dambkowski, chief medical officer at QED Therapeutics, an affiliate company of BridgeBio, also joins the conversation to describe cholangiocarcinoma, explain why it is difficult to detect and diagnose, and provide updates on how the recent advances in genetic testing has changed the treatment landscape for people with cholangiocarcinoma.

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 causes him pain during his daily wound care. RDEB has changed their lives. Sanuj Ravindran, M.D., executive chairman of BridgeBio's Phoenix Tissue Repair, joins the conversation to talk about the condition and explain how EB affects the body internally and externally.

John and Tony are living with limb girdle muscular dystrophy type 2i (LGMD2i), a rare genetic condition. And while they did not know each other before their joint podcast interview, their stories mirror each other in many ways. They tell us about their challenging and long diagnostic journeys and how LGMD2i has changed the trajectory of their lives and forced them to navigate the world in ways that are often isolating. Douglas Sproule, M.D., M.Sc., chief medical officer of BridgeBio's ML Bio Solutions explains how muscles are damaged in people with muscular dystrophy and how this damage affects the body overall.

BridgeBio Pharma introduces On Rare, a podcast about people living with rare conditions.