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…
Read MorePlaying 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.
Read MoreThe 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…
Read MoreProgressive Shopping for Superheroes
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.
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