Rikki’s Superhero Story

Rikki’s Superhero Story

An Update from Rikki’s Mom April 2020 Rikki is now 7 years old! She is our family fashionista! She loves fashion, dressing up, traveling, singing, and adventure! She has a great imagination and is the most caring and giving friend. She loves school, especially recess with her friends!

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Research Simplified with Dominique Lessard

Research Simplified with Dominique Lessard

Research Simplified with Dominique Lessard Dominique Lessard collaborated with KIF1A.ORG to explain the KIF1A research being led by her and others at Berger Lab. Through this research we learn what distinguishes the KIF1A motor protein as one of the most effective at cargo transport. In this edition of Research Simplified, we’ll take Dominique’s research paper,…

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Pause

By Sally Jackson Originally published April 17, 2018 I was recently asked if I was confident that a cure for KIF1A would be found – and the way in which I was asked was very nearly a rhetorical question; “And you believe that a cure will be found, yes?” My answer, though, was not automatic….

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The Elevator

The Elevator

By Luke Rosen Originally published March 8, 2018 A few months ago I was invited to speak to a group of medical students about KIF1A and how our daughter was finally diagnosed with such a rare condition. We talked about the difficulty of accessing appropriate genetic testing, and the delay in receiving results. A student asked me…

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Cost Analysis of Starting a Rare Disease Foundation

Cost Analysis of Starting a Rare Disease Foundation

By Luke Rosen Weneed the world to know about KIF1A. KIF1A is a gene. A mutation in that gene is causing the neurological disease our daughter was diagnosed with last year. KIF1A is stealing away Susannah’s steps and sight. She’s not alone. So we scream from the mountaintops. We fight to get kids the tests…

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Playing the Rare Disease Card

Playing the Rare Disease Card

By Luke Rosen Parenting a kid with special needs requires a lot of writing. It seems like I’m constantly writing, which is ok because… well, I’m a writer. Sitting at my desk typing a blog post is far less stress-inducing than the painful daily scribble that comes along with a rare genetic disorder.

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The Shoulder Flop

By Luke Rosen Keeping our kids safe is every parent’s number one job. Even as an adult I associate protection and safety with my childhood home and my loving parents. It’s a great relief when our children finally learn where to go and who to find when they’re in danger. More than a relief, it’s…

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