The Perilous Journey to Diagnosis and Treatment for Nano-rare скачать в хорошем качестве

The Perilous Journey to Diagnosis and Treatment for Nano-rare

n-Lorem exists to serve the nano-rare patient community. The opportunity for ASO treatment provides hope to the hopeless and eventually, we hope, treatments for many. Hopelessness and despair that come at the end of a long and perilous journey to diagnosis are devastating. In this special panel, some of our nano-rare patients share their diagnostic odysseys and what n-Lorem means for them and their families. This panel occurred during the 2024 Nano-rare patient Colloquium, hosted by Biogen, on October 31 in Cambridge, MA. https://www.nlorem.org/nano-rare-pati... About: Kayla Mansour is a dedicated mother of three from Dallas, Texas. By day, she works in marketing, but her true mission centers on empowering her daughter, Marley, who is one of only 60 individuals worldwide diagnosed with NARS1. After a challenging 9.5-year journey to diagnosis, Kayla has committed herself to advocacy and education. She works closely with The Rory Belle Foundation to support their research efforts aimed at finding a cure for NARS1. Through her participation on the parent panel, Kayla hopes to inspire and connect with other families facing similar challenges. Raena and her husband Frank are the parents of Gunnar and Raegan. In 2021, Gunnar’s diagnosis changed from Spastic Diplegic Cerebral Palsy to Hereditary Spastic Paraplegia after genetic testing revealed a pathogenic variant of his KIF1A gene. Raena is a Detective with 23 years of service in Law Enforcement. She recently joined Rescue 7 Firefighters For Patients where she serves as a Family Advocate. Robert “Bobby” Glenn is father to Rosie and member of the Yellow Brick Road Project (YBRP) Board of Directors. He studied Biology at the University of Colorado, Boulder, but ultimately found his passion working in various roles in business development and marketing in the tech industry. Robert was first introduced to HNRNPH2 when his daughter, Rosie, was diagnosed in 2019. He’s watched his determined daughter work hard for every little achievement, and is so proud of her accomplishments. As the Director of Marketing and Communications for the YBRP, Robert is committed to leveraging his experience for raising awareness for HNRNPH2, along with other rare diseases. Daphne Graskewicz-Prado is mother of three and works as a healthcare program manager. Harlow, her three-year-old daughter, was diagnosed with TUBB4A leukodystrophy in July of 2023 and so began Daphne mission to find a way forward for her daughter and kids like her. Daphne co-founded The Kinslow TUBB4A foundation with Sarah Marta – a fellow n-lorem patient mother- in late 2023 and hopes to empower TUBB4A and rare disease families to advocate for their children and find strength in numbers to forge forward the path for rare disease drug research and access. Junko Shiozawa is mother to Kuri, a patient living with DRPLA. Junko is a journalist, President of Hawaii Web TV, and a CureDRPLA Advisory Board member.