Interview

Connor’s Story: A First for TUBB4A Treatment

with Diana and Mike Gooley

June 11, 2025

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Connor Gooley is the first patient ever treated with an n-Lorem 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. This episode is proudly sponsored by Hongene Biotech.

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

Watch on YouTube:

Credits

Hosted by: Dr. Stan Crooke.
Videographer: Jon Magnuson of Mighty One Productions.
Producers: Kira Dineen, Jon Magnuson, Andrew Serrano and Amy Williford.

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Listen to our next interview:

Sharing Hope Through Storytelling and Connection with Shanna Tolbert

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