“Colbie is the perfect mix of sweetness, silliness, and a strong will!”
A message from Colbie’s family:
Colbie has already shown that she can and will overcome many challenges at a young age, but we hate that she has to work extra hard and dread what could lie ahead for her as she fights against the regression and degeneration that KAND is known to cause.
As an infant, Colbie was a “dream baby”, and we didn’t really notice any serious concerns until closer to 8 months or so when she began to miss developmental milestones and soon after, developed downbeat nystagmus. Before knowing what was causing these symptoms, we hoped it was all vision related, but after about 7 months of countless appointments and testing, we discovered a mildly atrophic cerebellum along with the genetic diagnosis of a de novo variant of KAND. This means her mutation is genetic, but not hereditary. Basically, it’s something that “just happened” and nobody has a cure for…yet. We pray for this cure every day and are so grateful for all who have supported the research to find one!
Colbie continues to show progress, thankfully, but also struggles with coordination and balance and other difficulties. She is monitored for potential seizures, is seen regularly by several specialists to stay proactive in her care, and currently attends five therapies per week. Therapies include physical, occupational, speech, feeding, and aquatic therapies. Her life is not that of a typical toddler, but she remains happy and determined, and we admire this about her so much! Colbie loves music, playing outside, and being with her four siblings. She is our joy and a true superhero.
