On Rare

“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.

“When life gives you lemons, make lemon gelato!” Brent is disabled by PKAN, a rare neurodegenerative disease, yet supported by his family he is making many of his dreams come true.

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.

“I learned to meditate.” Holly and Beth learned to take care of themselves while supporting their families through their husbands’ ALS diagnoses.

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.

“They would go to see their doctors and tell them everything was fine, but everything was not fine.” Carl and Chris struggled in their own ways to accept their ALS diagnosis.

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.