Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients! 🎉 Susannah’s story was the first shared on the Patient Empowerment Program podcast. Now, two years later, her father, Luke Rosen, and her physician, Dr. Jennifer Bain, detail Susannah’s remarkable progress since beginning regular treatments—highlighting improvements in her motor skills, cognition, energy, and more!

Susannah’s Story (May 25, 2022)

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• 3:10 Susannah’s KIF1A mutation
• 5:50 Luke and his wife Sally changed their careers to help find a treatment for KIF1A
• 7:23 How Susannah’s family first heard of n-Lorem
• 8:43 Jen on the Columbia University Medical Center team and the decision to treat Susannah
• 12:25 Luke’s experience bringing his daughter to receive an experimental ASO treatment for the first time
• 14:30 The positive outcomes and observations of Susannah’s treatment
• 26:15 What Dr. Bain has learned since treating Susannah
• 29:15 Luke on the impact and importance of the little things
• 31:15 Advice to other parents
• 35:40 Being part of a community of nano-rare patients and families

Jennifer Bain, MD, PhD, is an associate professor of neurology and pediatrics at Columbia University Medical Center. Dr. Bain completed both M.D. and PhD. as well as general pediatrics residency at Rutgers – New Jersey Medical School in Newark, New Jersey. She then trained in Child Neurology at New York Presbyterian – Columbia University Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology. Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and HIE. She currently works as a physician scientist at Columbia University specializing in general pediatric neurology with expertise in neurodevelopment, behavioral neurology and autism. Her clinical research has focused on studying the genetics of neurodevelopmental disorders including autism and cerebral palsy. She is PI on several clinical trials of precision medicine treatments for neurodevelopmental disorders, and currently treating 3 individuals with n-Lorem ASOs. She has been working closely with several patient advocacy groups, researchers, and Simons Searchlight to continuously move forward in the understanding of the developing brain.

Luke and Sally Rosen founded KIF1A.ORG in 2016 following their daughter’s KIF1A diagnosis. In 2017 he left his career in film and television to accelerate discovery of treatment for Susannah and children like her. Luke is a community leader who drives our collective mission to urgently bring treatment to children living with rare neurodegenerative diseases. Luke has held various senior level positions in biotech, has a master’s degree in bioethics, and is a firefighter in Sag Harbor, New York.

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