Category: Living with KAND

By Charisma FreemanOriginally published May 13, 2019, in FOCUS + Fragile Kids ViewFinder Newsletter KIF1A mom Charisma reflects on the turmoil she experienced after learning her 7-year-old son had been misdiagnosed with cerebral palsy, and how she found strength in her new family—the KIF1A community—to fight for a brighter future.

By Kathryn Atchley Originally published at 7billionones.org on February 27, 2019 In January 2017, my now five year old son, Parker, was diagnosed with a mutation in his KIF1A gene. After two years of searching, my husband Tyler and I had one answer to so many questions. Why is Parker falling all the time? Why can’t…

By Sally Jackson 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. An enthusiastic “YES! Of course!”…

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…

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.

The vocabulary of a KIF1A mutation is very confusing. This variant has it’s own language, and it’s a foreign one. For instance, the word “progressive” is the opposite of a child making progress.