Page 45 - Summer 2021

Family advocates for daughter with rare disease
By Julia Fechter
Photos courtesy Lisa Schueneman
At 2 years old, Colbie Schueneman’s joy is already contagious. She lights up the room when she bounces and sways to pop songs that her older siblings dance to. Moments like that have helped the Schuenemans endure through Colbie’s difficult medical journey.
Six-and-a-half months ago, Colbie was diagnosed with KIF1A Associated Neurological Disorder, a disease so rare that only about 300 other people in the world have been diagnosed with it.
KAND is a type of neurological degenerative disease that derives from a KIF1A gene mutation. Its effects vary in severity and can include optic nerve atrophy, seizures, intellectual disabilities, developmental and verbal delays, loss of mobility, peripheral neuropathy, spastic paraplegia and ataxia. It can rob people of the ability to talk, walk and feed themselves. In the most severe cases, it can cause death.
The Schuenemans got a diagnosis after a year of searching for
Lisa Schueneman, left, advocates for children like her daughter, Colbie, who have the rare KIF1A Associated Neurological Disorder.
answers. Because KIF1A.org existed through the KIF1A Foundation, the Schuenemans had a place to start. Colbie’s doctors say she has a moderate case.
When she was around 8 months old, Colbie had trouble focusing on objects and had difficulty sitting up. At 10 months, she randomly gazed off into space. This is called downbeat nystagmus.
Fortunately, the pediatric neurologist helped them rule out seizures with EEG tests. An MRI showed subtle atrophy in Colbie’s brain. The Schuenemans learned Colbie had hypotonia and hypertonia, which affect her core stability. Experts verified those motor, balance and vision-related symptoms. At the neurologist’s recommendation, they did genetic testing.
Finally, their answer came on Oct. 6, 2020. KAND was the reason that Colbie was experiencing symptoms like motor delays, the mildly atrophic cerebellum and downbeat nystagmus.
“We’re fortunate that the KIF1A organization was started
sJulia Fechter is a news reporter for The Oconee Enterprise newspaper in Watkinsville, Ga.
SUMMER 2021 | OcONEE ThE MAgAzINE | PAgE 43