On Rare

“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.

“Having a brother with a rare condition has changed who I am. My family has a big heart because of my brother.”

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/

“You have to find your people. It’s the most important thing you do along this journey.” Effie is the mother of Ford, a boy living with CTNNB1 syndrome and host of Once Upon a Gene.

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.

“I didn’t know I was part of a rare community until I started listening to the Two Disabled Dudes podcast.” Effie is the mother of Ford, a boy living with CTNNB1 syndrome and host of Once Upon a Gene.

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/

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.