This study provides the first exploration into the experiences of individuals and families affected by KAND. We recruited a substantial proportion of families affected across Australia and New Zealand (representing 16 of the 28 individuals genetically diagnosed with KAND), capturing a wide range of experiences. Participants described prolonged and distressing diagnostic journeys, fragmented healthcare experiences, substantial caregiving burdens, and persistent unmet support needs, collectively highlighting the profound impact of KAND on family life.

Many of the challenges reported mirror those documented in childhood dementia and other neurodevelopmental conditions, including poor care coordination (Bose et al. 2019), uncertainty regarding long-term care (Nevin et al. 2023), high caregiving demands (Williamson 2019), behavioural management difficulties (Nevin et al. 2023), and barriers accessing disability funding (O’Neill et al. 2024). These parallels suggest that families affected by KAND encounter systemic barriers similar to those observed across childhood dementia, reflecting broader deficiencies in integrated rare disease care. However, these families may face additional challenges due to the limited availability of information resources and restricted access to clinicians and support services with relevant expertise. Consistent with recommendations from the Childhood Dementia Initiative (2020), our findings support cross-condition approaches to research, service delivery, and support programs, which may improve efficiency and equity while enabling opportunities for collective progress (Elvidge et al. 2025). At the same time, interventions tailored specifically to KAND remain necessary alongside broader efforts to improve care for childhood dementia.

Several challenges appear distinctive to KAND or are intensified by its ultra-rare nature. In particular, sensory hypersensitivities and environmentally triggered behavioural outbursts were prominent yet remain poorly described in the existing literature. Parents frequently linked behavioural distress to overstimulation from light, sound, or crowded environments, drawing parallels with autism spectrum disorder, a recognised but underexplored feature of KAND. These symptoms substantially limited family participation in social and community activities and contributed to parental stress. Recognising these challenges explicitly in clinical consultations may better equip families to anticipate and manage them effectively.

Physical impairments, including progressive mobility limitations and vision loss, further intensified caregiving demands, often necessitating continuous supervision. Together, these cognitive, behavioural and physical challenges underscore the need for clearer guidance for clinicians and families on common symptom trajectories and their real-world implications. Consistent with previous literature (Saini et al. 2024), therapeutic interventions were described as critical for maintaining function and independence. Communication difficulties emerged as a particularly significant concern, contributing to frustration from both individuals with KAND and their families, consistent with observations by Morison et al. (2025). Parents reported meaningful improvements with speech therapy, including progression from minimal verbal communication to functional speech in some cases, reinforcing the importance of timely and sustained access to therapies despite the degenerative nature of the condition.

The overall caregiving burden described by parents was extensive and all-encompassing. This burden was further compounded by limited clinician familiarity with KAND, requiring parents to assume roles not only as caregivers but also as advocates, care coordinators, and KAND experts in their own right, including educating clinicians involved in their child’s care. The cumulative administrative, emotional, and cognitive labour, combined with restricted access to respite services, contributed to exhaustion, guilt, and reduced opportunities for self-care. These findings reinforce the need for greater access to professional support and respite to protect caregiver wellbeing and improve overall family functioning.

Families also encountered substantial barriers to diagnosis and ongoing care, consistent with patterns observed across rare diseases (Lopes et al. 2018). Diagnostic delays were frequently attributed to clinician unfamiliarity, misdiagnosis (most commonly as cerebral palsy), and delayed recognition of the significance of early developmental concerns. Parents often described their concerns being initially minimised or attributed to normal developmental variation or personality traits before further investigation was pursued. Given the benefits of early diagnosis for care planning, increased awareness of KAND is essential, particularly in cases initially suspected to be cerebral palsy. Although inclusion of KIF1A on diagnostic gene panels, including the Australian PanelApp, represents progress, this must be complemented by accessible clinician resources to translate genomic advances into timely diagnoses.

The delivery of the diagnosis itself was often described as distressing, characterised by overwhelming or insufficient information and a lack of referral to peer support. While some educational materials on KAND exist, including a factsheet on the symptoms of KAND and basic supports (Centre for Genetics Education 2021) and on speech and language (Translational Centre for Speech Disorders 2025), participants identified persistent gaps in practical guidance, particularly regarding navigating support services, accessing entitlements, and understanding the roles of different healthcare professionals. These findings emphasise the value of co-designing resources with families to ensure relevance to daily life.

Access to clinicians with knowledge or experience in KAND was another prominent unmet need. While it is unrealistic for all clinicians to be familiar with KAND, families stressed that clinicians should, at a minimum, provide clear, empathetic and practical guidance to newly diagnosed families, including referral to peer support networks such as KIF1A.AU. To support clinicians encountering unfamiliar rare conditions, readily accessible, disease-specific resources should be available when needed. Genomic education for clinicians is also important as genomic testing becomes more widely integrated into clinical practice, facilitating the diagnosis of rare diseases that may previously have remained undiagnosed. Beyond educational resources, participants strongly emphasised the potential value of a centralised network or registry of clinicians with relevant expertise or interest. Such a model could improve referral pathways, reduce the burden on families, and enhance continuity of care. Furthermore, while some delays in diagnosis may be unavoidable due to the rarity of KAND, broader support organisations such as SWAN (Syndromes Without A Name) may provide valuable interim support for families navigating uncertainty prior to receiving a diagnosis.

Navigating the NDIS was a major challenge for many families. Although difficulties with the NDIS are well documented in other conditions, such as cerebral palsy (O’Neill et al. 2024), they appeared particularly pronounced in KAND due to phenotypic heterogeneity and misunderstandings regarding the value of therapies in degenerative conditions. Despite formal recognition of KAND by the NDIS, greater workforce education is required to ensure funding decisions reflect the functional benefits of early intervention and ongoing therapy.

The demographic profile of participants suggests inequities in access to diagnosis, with an overrepresentation of highly educated and financially secure families, some with healthcare backgrounds. This aligns with broader rare disease literature and suggests that individuals lacking such resources may remain undiagnosed or misdiagnosed. There may be a significant number of individuals in Australia, New Zealand, and indeed globally, who have been misdiagnosed or are yet to receive a KAND diagnosis.

Families employed a range of coping strategies, most notably engagement with peer support networks and positive reframing. The peer support provided not only psychological benefits by fostering connection and reducing isolation, but also practical, experience-based advice. While dedicated peer support organisations for KAND already exist, many families were unaware of these organisations until much later in their journey. This disconnect indicates a systemic failure: the provision of information regarding peer support organisations is fragmented and primarily disseminated by the foundations themselves rather than integrated into clinical pathways. Embedding these referrals into standard practice at the point of diagnosis could have a meaningful impact on families affected by KAND, and by extension, rare diseases more broadly.

While participants strongly valued diagnosis-specific peer support through organisations such as the KIF1A Australia Foundation and KIF1A.ORG, our findings also raise broader questions about how support communities are conceptualised in rare neurodevelopmental and neurodegenerative conditions. Many challenges described by families, including fragmented healthcare, social isolation, caregiving burden, and uncertainty around long-term prognosis, are shared across childhood dementias and other severe neurodevelopmental disorders. As such, broader rare disease communities may offer important psychosocial support and opportunities for shared advocacy across conditions.

However, our findings also indicate that diagnosis-specific communities remain particularly valuable in ultra-rare disorders such as KAND, where families often seek highly specific experiential knowledge regarding symptom progression, potential therapies, prognosis, and emerging research. In the era of precision medicine, molecular diagnoses are also increasingly shaping access to patient registries, clinical trials, and future targeted therapies. This highlights a networked model of support in which families can engage with both diagnosis-specific and cross-condition communities as complementary and interconnected resources, collectively strengthening psychosocial support, advocacy, and research engagement in rare disease.

Most of the data from this study was obtained from carers rather than individuals directly affected by KAND. While this reflects the reality that many individuals with KAND experience significant intellectual disability, it frames the findings through a predominantly caregiver lens. Future research should seek to incorporate adapted communication methods to ensure that individuals with varying levels of disability are able to contribute to research (Strnadová et al. 2023).

Targeted education and the development of accessible, patient-centred information resources is of great importance. Raising awareness about KAND should focus on healthcare professionals that are most likely to encounter affected children, including general practitioners, paediatricians, neurologists, geneticists, and genetic counsellors. Research exploring the experiences of healthcare professionals providing care for individuals with KAND may inform strategies to better support clinicians and improve healthcare delivery. At a more systemic level, there is a strong need for education of the NDIS workforce in terms of variability in clinical presentations, and the continuing importance of therapies and early intervention despite a degenerative disease trajectory. Grouping KAND under the umbrella term of ‘childhood dementia’ may facilitate understanding among clinicians and policymakers, allowing funding and services to be allocated more fairly (Elvidge et al. 2025).

Future research should investigate the economic burden of KAND, as well as strategies to improve clinician knowledge and communication. Expanding the study to include international families would provide valuable insights into how these findings apply across different healthcare systems and cultural contexts.

These findings underscore the urgent need to better support families affected by KAND. Key priorities include establishing a centralised network or registry of clinicians with relevant expertise, providing more practical and comprehensive information resources, improved access to NDIS funding – including increased respite hours – and ensuring diagnoses are delivered with compassion, alongside clear referral pathways to peer support organisations. Greater recognition of KAND under the umbrella of childhood dementia may also enhance clinical understanding and awareness.

More broadly, this study contributes to our understanding of childhood dementia and rare disease, while emphasising the unique challenges faced by families living with KAND. Addressing these unmet needs has the potential to improve diagnostic pathways, strengthen support services, and enhance quality of life for affected individuals and their families. Importantly, these insights also help guide research priorities and clinical practice as the field moves toward to the development of effective treatments, and ultimately a cure for KAND.