Category: Living with KAND

In this guest post, Arica Altobello, Speech-Language Pathologist, caregiver and friend to KIF1A superhero Sadie, shares her experience planning an inclusive KIF1A Day event at Sadie’s elementary school in April. The next official KIF1A Day is April 28, 2022, but every day is an opportunity to teach others how to be a friend to our…

To date, roughly 300 individuals have been diagnosed worldwide with KIF1A Associated Neurological Disorder (KAND). These three families have three very important things in common: their children’s diagnosis, gene variant, and location!

By Luke Rosen Susannah does not wear pajamas to bed, she wears battle gear. After her bath is finished, teeth brushed, stories read and songs sang, it is time for the grueling marathon that is Susannah’s rare, nocturnal epilepsy. Her nine-year-old brother, Nat, flies into the bedroom like Superman and hugs her tight. “Night Shasha!”…

At the 2019 KAND Family & Scientific Engagement Conference, we asked families affected by KIF1A Associated Neurological Disorder (KAND) to help people understand their challenges and what matters most to them.

KIF1A parent Anouk shares her reflections on loss, resiliency and friendship after meeting other KIF1A parents for the first time at the KAND Conference in New York City.

KIF1A parent Anouk shares her reflections on loss, resiliency and friendship after meeting other KIF1A parents for the first time at the KAND Conference in New York City.

Before all this happened, I wrote plays. Before Susannah was diagnosed with a rare neurodegenerative disease; before we started the foundation; before I knew about motor proteins and phenotypes; before special needs; before rare disease policy; before biotech; before that moment in the hospital elevator when everything changed, one of my jobs was teaching high…

KIF1A mom Jenni shares her insights after attending RARE on the Road, a Rare Disease Leadership Tour hosted by The EveryLife Foundation and Global Genes. At this workshop, Jenni connected with fellow rare disease advocates and found renewed hope for the future of the KIF1A community.

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!”…