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

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

By Luke Rosen Originally published August 31, 2017 As our foundation thrives, more families with KIF1A find our community, and scientific discovery is taking flight, an important conversation emerges about how family and patient-led foundations start — and if it’s possible to facilitate the discovery of treatment for rare disease. A large part of that…

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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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The Forgotten Amendment: A Newborn’s Right to Whole Exome Sequencing

The Forgotten Amendment: A Newborn’s Right to Whole Exome Sequencing

By Luke Rosen On December 18, 2014, President Obama signed into law an amendment to the Newborn Screening Saves Lives Reauthorization Act of 2014 giving the Secretary of Health and Human Services authority to regulate newborn screening tests. Before this amendment was passed, newborn screening polices varied from state to state. The amendment included new tracking…

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