A US-based patient-led organisation, KIF1A.org, is reaching abroad to find more affected patients. The organisation was started by parents dedicated to finding a cure for children living with KIF1A Associated Neurological Disorder (KAND), a rare progressive genetic disease.

“Mutations in the KIF1A gene cause a degenerative neurological condition with a progressive course. Often these mutations occur spontaneously and are non-inherited genetic changes, making the disease difficult to diagnose. Approximately 200 individuals throughout the world are presently known to be diagnosed with KAND. However, this number is growing daily. Leading KAND expert, Dr. Wendy Chung of Columbia University Medical Center, suspects there are likely tens of thousands of children and adults living with the wrong diagnosis.

Many of our families have reported receiving partial or incorrect initial diagnoses, including: cerebral palsy, hereditary spastic paraplegia, global development delay, optic nerve atrophy, cortical vision impairment, epilepsy, autism, unspecified neuromuscular disorder, microcephaly, or probable mitochondrial disease.

Our mission is to immediately discover a cure for every person living with KAND, but first we must identify the prevalence of this disease. Through parent advocacy, we have garnered the support of several genetic testing companies who have included KIF1A mutations on targeted panels.

If you or anyone you know exhibits any of the following symptoms, and the diagnosis is unclear, please contact us. We also welcome you to let us know of any local or national organizations or networks you are aware of that may serve misdiagnosed or undiagnosed KAND patients.”

Visit the KIF1A.org website for more details.