Hope is something we all need. Often it comes from unexpected places — like finding out your child has a rare disease that may kill her.
Luke Rosen was working as an actor and writer in New York when his daughter Susannah was diagnosed with KIF1A, an ultra-rare neurodegenerative condition. It’s often fatal. At the time they received Susannah’s diagnosis, Luke and his wife Sally didn’t have much hope. There was no treatment for KIF1A, and there wasn’t much work being done on it among researchers.
But Luke, one of the most optimistic people you’ll ever meet, did what so many parents of children with rare diseases do…he threw himself at the problem.
He and Sally started the KIF1A.org Foundation so they could start building research that could go towards finding a treatment for their daughter. It was the beginning of a long journey for the family. Ultimately, that journey led them to the n-Lorem Foundation, an organization founded by CNBC Cures Advisory Board member Dr. Stan Crooke that offers free ASO treatments to individuals with nano-rare diseases. Thirty years in the making, Antisense oligonucleotide (ASO) technology bridges genomic discovery to personalized medicine one patient at a time. Because of the work done by n-Lorem, Susannah is now receiving treatment for her KIF1A. Luke says the treatments helped for while, though he’s now worried the disease is catching up.
To learn more about KIF1A-associated neurological disorders, please check out Luke and Susannah’s foundation called KIF1A.org.
n-Lorem’s work is here: https://www.nlorem.org/
Chapters:
00:30 Introduction
03:05 Susannah’s story
11:15 Treating nano-rare patients
19:53 Taking a risk
27:06 Hope is the best medicine
36:11 We’re the lucky ones
Watch Episode 1 of The Path: https://youtu.be/-SD8-YcQdb4
Join us in advancing awareness and understanding of rare diseases: https://www.cnbc.com/cures/
To share your story, email us: CNBC.cures@cnbc.com
Produced by: Katie Kramer, Brad Quick, Kelly Lin, Leanne Miller
Edited by: John Lazration
Camera: Gerry Miller, David Grogan, Marco Mastrorilli, Tara McCurrie
Audio: Everett Wong
Graphics by: Jason Reginato, Lindsey Jacobson
Additional Material: Luke Rosen, n-Lorem Foundation, Ryan Christopher Jones
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‘This Isn’t Normal, And It Isn’t Pain-Free’: Luke Rosen’s Parenting Journey