Rosie’s Story: A Nano-rare Treatment Pioneer

Rosie was the first of three HNRNPH2 patients to receive treatment with an n-Lorem ASO, helping to pave the way for others. Her parents, Nicole and Bobby, share their daughter's journey and how they have adapted as a family to meet her unique needs. As a pediatrician, Nicole understands the complexities of medical care, yet she acknowledges that even she doesn’t always have the answers when it comes to raising a child with a nano-rare disease—a reality that resonates with many nano-rare families. On this episode we discuss: 2:00 Bobby left his job to help care for Rosie full-time 7:36 Nicole is a pediatrician and it’s difficult for her to not regularly attend Rosie’s appointments 11:16 Rosie’s diagnosis of HNRNPH2 16:00 Even as a pediatrician, Nicole finds nano-rare diseases complex and difficult to navigate 19:29 What is HNRNPH2? 26:40 Coming to terms with the diagnosis 29:35 Weighing the potential risk/benefit and making the decision that Rosie will be the first HNRNPH2 patient treated with an experimental medicine 37:05 How Rosie is doing after three ASO treatment doses 40:35 Potential for a placebo effect and allowing multiple observers to notice changes   Donate to n-Lorem: https://www.nlorem.org/donate/ This episode is brought to you by Hongene Biotech: https://www.hongene.com/