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.

For more about Susannah's story: visit: https://www.kif1a.org/

n-lorem's work is here: https://www.nlorem.org/

 

Join us in advancing awareness and understanding of rare diseases. Visit CNBC.com/Cures to access clips, resources, or to sign up for our weekly newsletter. 

 

Follow Becky Quick on X: @BeckyQuick

Please share your thoughts or rare disease story in the comments, and join us on The Path.

Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.