“I Felt Like a Lone Ranger”: Experiences of Australian Families Living with KIF1A-Associated Neurological Disorder

KIF1A- Associated Neurological Disorder (KAND) is a heterogeneous group of ultra-rare neurodegenerative conditions. Severe forms of KAND, classified within the broader category of childhood dementias, lead to progressive loss of motor, communication and motor skills with markedly reduced life expectancy. Although the disorder is genetically and clinically defined, little is known about how families experience diagnosis and ongoing care. To address this gap, we conducted the first empirical investigation into family experiences of KAND. Fifteen semi-structured interviews were conducted with 16 parents of individuals with KAND; one interview also included an individual living with KAND. Data were analysed using inductive content analysis. Families described healthcare journeys shaped by frustration and uncertainty, with early concerns frequently dismissed, diagnoses delayed, and access to clinicians with relevant expertise limited. These challenges were compounded by the financial, administrative, psychological and relational strain associated with the complex care needs of KAND. Families reported unmet support needs, including limited access to condition-specific information, difficulties navigating formal support systems, and uncertainty surrounding long-term care planning. In response to these gaps, parents emphasised the need for clearer diagnostic pathways, coordinated multidisciplinary care, and a centralised network of informed healthcare professionals. In the absence of formal support, families relied heavily on peer support networks for information and psychosocial connection. By identifying previously undocumented gaps in rare disease service delivery and support, these findings highlight opportunities to improve clinical genetics practice, strengthen support pathways, and guide future research aimed at enhancing quality of life for individuals with KAND and their families.