On Rare

“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.  

“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.

“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 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.

“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, 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

“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 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.

Jonathan Fox, MD, talks about ATTR

“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 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.

“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, 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 gives a medical introduction to ATTR-CM. 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.