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Sloane's Story: A Shared Medicine
Manage episode 465120505 series 3349924
เนื้อหาจัดทำโดย n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen), N-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen) เนื้อหาพอดแคสต์ทั้งหมด รวมถึงตอน กราฟิก และคำอธิบายพอดแคสต์ได้รับการอัปโหลดและจัดหาให้โดยตรงจาก n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen), N-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen) หรือพันธมิตรแพลตฟอร์มพอดแคสต์ของพวกเขา หากคุณเชื่อว่ามีบุคคลอื่นใช้งานที่มีลิขสิทธิ์ของคุณโดยไม่ได้รับอนุญาต คุณสามารถปฏิบัติตามขั้นตอนที่แสดงไว้ที่นี่ https://th.player.fm/legal
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
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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