Colbie is sweet, determined, and strong in spite of her brain and body often working against her. Her rare genetic mutation of the KIF1A gene causes a disorder known as KAND (KIF1A Associated Neurological Disorders). At age two, she’s too young to understand that this disorder is considered neurodegenerative and progressive. We do our best to focus on taking things a day at a time and helping her to stay strong. For Colbie, life in 5 therapies a week, multiple doctors appointments, and a need for additional assistance is a norm. She shows up to her therapies with a sweet smile and adorable little wave that she worked hard to learn how to do for anyone willing to say hello or goodbye to her. 

Like many of us, she’s not a huge fan of doctors’ appointments and long waits, but thoroughly enjoys working with her therapists who keep exercises fun for her. Her current therapies include OT, PT, Hippotherapy, Speech and Feeding. Colbie struggles with balance and coordination, so is not standing unsupported or walking independently. We hope she will be able to, but the reality is that she could lose this even if she does. 

Our family is a blended family of 7, so Colbie has no shortage of cheerleaders and is often quick to remind us if we forget to applaud or acknowledge her accomplishments by clapping and cheering for herself. Many of these skills may seem small to others, but we know the effort and strength it takes for her to overcome hypotonia and ataxia, along with cerebellar atrophy, sensory, vision and other challenges that she faces because of KAND.

KAND symptoms vary amongst those diagnosed, as does the severity. These can also include neuropathy, spasticity, seizures, developmental delay, and optic nerve atrophy and can lead to many losing their ability to walk, talk, eat or even breathe. This is a hard thing for our family to accept as we see our little warrior making progress and fighting hard each day. We fear the symptoms that could lie ahead and advocate regularly for a KAND cure with the support of other parents and KIF1A.org 

Colbie’s strong will and determination keep us hopeful that a cure could be possible in her lifetime. She is the definition of joy and her frequent giggles, hugs, dancing, love of music, and “baby monster” games bring us endless smiles. We couldn’t love our girl more and we hope that others will also recognize how amazing she is and never treat her any differently because of her disabilities. We say “she will move mountains,” but in a way, she’s doing that already. 

We share Colbie’s journey through @careforcolbie to keep our family and friends updated, for others to get to see our girl the way we do, to advocate for Disability, KIF1A, and Rare Disease awareness, and to seek funding for a cure. Her page has also allowed us to connect with many other warriors and their parents and we are so thankful for this supportive community! To learn more about Colbie click here and to learn more about KIF1A, click here!

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