Connor Gooley is the first patient ever treated with an ASO for TUBB4A-Related Leukodystrophy, a condition that severely disrupts his nervous system, slows nerve impulses, and impairs his fine motor skills. As a result, Connor cannot speak, walk, sit up on his own, or chew well. Still, he manages to army crawl, propel himself in his wheelchair, and use a gait trainer. He’s also remarkably resilient—rarely crying or complaining despite the daily challenges he faces. In this episode of the Patient Empowerment Program, Connor’s parents, Diana and Mike, share their family’s journey from diagnosis to treatment and reflect on their observations of Connor after more than six months on an n-Lorem discovered and developed treatment. On This Episode We Discuss: 1:33 Shaking eyes were the first sign of Connor’s rare disease 4:10 An MRI revealed little to no myelin, leading to whole genome sequencing and an eventual TUBB4A genetic mutation diagnosis 7:10 Connecting with another family with the same mutation 10:00 Finding n-Lorem through a ‘seeking patient candidates’ advertisement in a Global Genes annual report 12:26 Contextualizing Connor’s TUBB4A mutation in simple terms 21:19 How rare diseases affect families and creating a new normal 27:41 Receiving treatment in Boston and contemplating the decision to agree to an experimental treatment for their son 32:00 Observations after 6 months on treatment 35:45 n-Lorem has given the Gooley family hope for a better future for Connor   Links: Hongene Biotech: https://www.hongene.com/  Donate to n-Lorem / Support nano-rare: https://www.nlorem.org/donate/  n-Lorem 2025 NRPC: https://www.nlorem.org/nano-rare-patient-colloquium-2025/