Відео

Congratulations to Samuel Ditchek, Founder and Executive Director of JPatible, on receiving a 2024 TORCH Award. Samuel’s work with JPatible focuses on health equity and providing education, awareness, counseling and screening for Jewish genetic disorders. His ability to build trusted and culturally sensitive relationships with the Jewish community has made a significant impact for diverse and a...

Congratulations to Christopher and Jacob Hohn on receiving a 2024 TORCH Award. Despite Christopher living with mucopolysaccharidosis type I (MPS I), a rare, inherited disorder characterized by an abnormal build-up in the body's cells, these remarkable brothers have become a powerful force in advocacy and awareness of the disease. At just 10 and 8 years old, they've organized an annual Smash Out...

We’re proud to honor Paloma Juarez, a champion of the Pompe and rare disease communities, as the recipient of a 2024 TORCH Award. As the mother of two children with Pompe disease, Paloma's lived experiences have ignited her passion to advocate for all those living with Pompe. She has made an impact on countless lives through her active leadership in EveryLife Foundation and advocacy of newborn ...

We're honored to celebrate David Law, a dedicated father and advocate, as the recipient of a 2024 TORCH Award. Inspired by his daughter Violet's journey with GM1 Gangliosidosis, a rare genetic disorder that destroys nerve cells in the brain and spinal cord, David has been committed to raising awareness and finding a cure. Through fundraising, public speaking, and community engagement, he has pl...

Congratulations to Claire Oliver on receiving a 2024 TORCH Award! Born with Phenylketonuria (PKU), Claire has been advocating on behalf of people living with rare diseases since she was 12 years old. As a member of EveryLife Foundation's Young Adult Rare Representatives, she has advocated at both state and federal levels for the Medical Nutrition Equity Act. She also volunteers for the Intermou...

We're thrilled to celebrate Nadene Henderson, a dedicated genetic counselor and research coordinator, as the recipient of a 2024 TORCH Award. For 30 years, she has tirelessly advocated for her patients and the greater lysosomal storage disease (LSD) community. In addition to her work in the clinical setting, Nadene has spearheaded the development of initiatives to support the rare disease commu...

Throughout his career, Dr. Christopher Rizzo has been committed to advancing care for and prevention of respiratory syncytial virus (#RSV) in babies, inspired by experiences both personal and professional. Learn more about RSV at knowingrsv.com. MAT-US-2406602

A recipient of a 2018 TORCH Award, Steven Laffoon, President and Cofounder of the Wilder Nation Foundation was inspired to become a rare disease advocate by his son, Wilder, who passed away from acid sphingomyelinase deficiency (ASMD), a rare genetic disorder that affects multiple organs. Steven shares his journey advocating for continued research, innovative treatments and improved diagnostics...

Since receiving a TORCH award in 2016, Sabrina Low-Dumond has continued to advocate for people living with Pompe disease, like her son, Zach. Sabrina discusses the impact of advocacy and shares her personal journey testifying in front of the Senate and encouraging the successful passage of a law that made Pompe disease part of newborn screenings. Sabrina also offers advice to other parents on e...

Amber Doss, the co-lead of our WISE ERG, discusses her experience working at Sanofi and outlines some of the meaningful work she does every day from advocating for patients to supporting her colleagues. #DEI

Meet Kirsten Weary, a Manufacturing Excellence Change Leader and Site Lead for our PrideConnect employee resource group based in Swiftwater, Pennsylvania. Discover what #Pride means to her and how she feels supported by her team to show up as her authentic self each day. #PrideInManufacturing #PrideMonth #WomenInManufacturing

Pompe disease is a degenerative and potentially life-threatening genetic muscle disorder. Late-onset Pompe disease (LOPD) is characterized by progressive weakness in the trunk and proximal muscles as well as the group of muscles surrounding the pelvis. This may affect a person’s mobility, making it difficult to walk, climb stairs, stand up from a chair, and reach overhead. Weakness in the diaph...

Pompe disease is a degenerative and potentially life-threatening genetic muscle disorder. Late-onset Pompe disease (LOPD) is characterized by progressive weakness in the trunk and proximal muscles as well as the group of muscles surrounding the pelvis. This may affect a person’s mobility, making it difficult to walk, climb stairs, stand up from a chair, and reach overhead. Weakness in the diaph...

Pompe disease is a degenerative and potentially life-threatening genetic muscle disorder. Late-onset Pompe disease (LOPD) is characterized by progressive weakness in the trunk and proximal muscles as well as the group of muscles surrounding the pelvis. This may affect a person’s mobility, making it difficult to walk, climb stairs, stand up from a chair, and reach overhead. Weakness in the diaph...

Gait Abnormalities in Late-Onset Pompe Disease (LOPD) - Reaching Overhead

Living with Pompe disease Andrea & Family

Living with Pompe disease Andrea's Story

Living with Pompe disease - Sean & Cheryl

Women in Manufacturing: Meet Valeria

RSV Real Talk: Riley’s Story

RSV Real Talk: Emma’s Story

RSV Real Talk: Tasha’s Story

ASMD Facts Chapter 5: How Can You Take Charge of Your ASMD?

ASMD Facts Chapter 4: How is ASMD Inherited?

ASMD Facts Chapter 3: How Do You Know if You or a Loved One Has ASMD?

ASMD Facts Chapter 2: What are the Signs and Symptoms of ASMD?

ASMD Facts Chapter 1: What is ASMD and What Causes It?

RSV Real Talk: Pete’s Story

RSV Real Talk: Stephanie’s Story