Music Matters

Program: KIF1A

Colbie’s Story:

Colbie is a fun-loving, determined, and delightfully silly child whose joy is contagious. Known as the family comedian, she lights up every room with her laughter and charm. She adores her four teenage siblings, her dogs, and cherishes the one-on-one time she gets with her beloved babysitters. Music is one of her greatest passions; she sings and plays the piano and ukulele in her own unique way. Though she can’t walk independently, Colbie finds freedom crawling through open spaces and splashing in the pool or bathtub, two of her favorite places to be. She never leaves home without a baby doll or Barbie in hand.

Colbie’s Story: The Search for Answers
At 17½ months old, Colbie’s family received a life-changing call: after months of testing and therapies, her delays and vision concerns were linked to an ultra-rare, progressive neurological disorder called KIF1A Associated Neurological Disorder (KAND).

The diagnosis was the heartbreaking answer to several unresolved questions; from vision and balance concerns to evaluations for hypotonia, seizures, and developmental delays. Despite her challenges, Colbie continued to grow and learn with the help of therapy, even as her parents sensed something more complex was unfolding. Whole exome sequencing confirmed their instincts, revealing a rare variation in the KIF1A gene.

KAND has a wide spectrum of outcomes. While Colbie continues to make progress in some areas, her future remains uncertain. She faces the possibility of increased spasticity, vision loss, seizures, and a lifelong need for assistive devices and therapies, amongst other challenges.
Through every unknown, one thing has remained constant: Colbie’s strength and her family’s fierce love and advocacy. Their journey has been marked by heartbreak, hope, and a deep commitment to giving her the happiest life possible.

Colbie Today
Now several years past her diagnosis, Colbie continues to meet challenges that most children never have to face. She has global developmental delays impacting her both cognitively and physically. At school, she uses both her walker and wheelchair with growing confidence. She attends 4 therapies a week, takes preventative medication for epilepsy and manages ongoing vision and fine motor challenges.

Yet none of this dims her spirit. Whether making her siblings laugh, soaking up one-on-one time, or giving her all in therapy, Colbie approaches life with joy, grit, and an unstoppable will to keep moving forward. KIF1A may shape parts of her journey, but it doesn’t define her. Her light shines through in everything she does.