The Power of a Rare Disease Community - Luke Rosen, Founder of KIF1A.org

“You know, it's easy to say that default answer that everything's okay, but it's really not. She's lost a lot of her vision, she's got hundreds of seizures at night, and she's having difficulty walking,” shares Luke Rosen about his eight-year-old daughter Susannah.  She was born with KIF1A-associated neurological disorder -- or KAND -- a rare, degenerative genetic disease for which there is currently no cure or treatment.  On this episode of Raise the Line, Luke talks about how he and his wife Sally summoned the strength to move beyond their family’s own challenges to create KIF1A.org which is working to rapidly discover a treatment for all patients and families affected by this devastating disorder, but to also create a supportive community.  “Five years later, we have approximately four hundred families around the world that we've identified and there's not one family I know that doesn't play a significant role in what we do.” Thanks to that global community and partnerships with the Chan Zuckerberg Initiative, Columbia University, the n-Lorem Foundation, the Jackson Laboratory and many other organizations, there’s reason to be hopeful, as Luke shares with host Shiv Gaglani. “Susannah has been fortunate enough to just have started an experimental treatment. We really are on the brink of several things for, hopefully, the entire community.” Tune in for a candid and moving look at how families and supportive scientists and healthcare providers are mobilizing to fight back against a rare and pernicious threat to their children.

Mentioned in this episode: https://www.kif1a.org/

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