Patient Empowerment Program: A Rare Disease Podcast

Sloane's Story: A Shared Medicine

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Sloane was born with a KIF1A mutation and is a special case at n-Lorem—she was the first patient to receive a medicine originally designed for someone else. Her mother, Megan, and grandfather, Tom, join the Patient Empowerment Program to share her journey and provide an update on how she’s doing six months after treatment. 

On This Episode We Discuss:

  • Sloane’s KIF1A diagnosis 
  • Nano-rare diseases affect the entire family
  • Sloane was able to use the same ASO as another KIF1A patient
  • Finding n-Lorem through KIF1A.ORG
  • Shocked that n-Lorem was able to create personalized treatments efficiently at cost
  • Sloane’s case is unique in a variety of ways and the decision to treat 
  • How Sloane has responded to treatment
  • Are better measurements of benefit needed for nano-rare patients?
  • How Sloane has brought empathy, joy, and positivity to her family 
  • Tom unretired to help fund research and support 
  • The origins of ASO medicine is a long haul 

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    Thank you to Hongene Biotech for sponsoring this patient story episode!

     

    Make Hope Possible for nano-rare patients with a donation to n-Lorem.

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    Patient Empowerment Program: A Rare Disease PodcastBy n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen)
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