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.
Popular Podcasts
Stuff You Should Know
If you've ever wanted to know about champagne, satanism, the Stonewall Uprising, chaos theory, LSD, El Nino, true crime and Rosa Parks, then look no further. Josh and Chuck have you covered.
Dateline NBC
Current and classic episodes, featuring compelling true-crime mysteries, powerful documentaries and in-depth investigations. Follow now to get the latest episodes of Dateline NBC completely free, or subscribe to Dateline Premium for ad-free listening and exclusive bonus content: DatelinePremium.com
Las Culturistas with Matt Rogers and Bowen Yang
Ding dong! Join your culture consultants, Matt Rogers and Bowen Yang, on an unforgettable journey into the beating heart of CULTURE. Alongside sizzling special guests, they GET INTO the hottest pop-culture moments of the day and the formative cultural experiences that turned them into Culturistas. Produced by the Big Money Players Network and iHeartRadio.