On Rare

• “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 genetic form of hypoparathyroidism. Julien’s specific mutation is so unique that he is the only known case in the world. In today’s episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Kady, the mother of Julien, 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 Julien 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.

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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, we laughed, and we cried. We are deeply grateful to all of our guests. Join us for a look back at 2024 and don’t forget to subscribe to learn more from our guests in 2025.  

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• “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. 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.

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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 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.  

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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 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., Medical Director at ML Bio Solutions, a BridgeBio company developing BBP-418 for LGMD2I/R9, provides an overview of the genetic condition. 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. Many people with LGMD2I/R9 have prolonged pathways to diagnosis because it is a rare disease with an early onset of symptoms.   To learn more about LGMD2I/R9 and the LGMD community, visit the LGMD Awareness Foundation, the CureLGMD2i Foundation, and The Speak Foundation.

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