Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty

Abstract

This is the second of a three‐part series that explores different aspects of uncertainty, certainty and hope in the context of providing clinical care for children with rare and life‐limiting neurological disorders. When caring for families impacted by an overwhelming complex disorder in a child, complicated by threatening uncertainties and potentially more threatening certainties, clinicians utilise skills drawn from differing fields to make the load of information, and the emotional impact more manageable. The first article in this series addressed how clinicians might manage the ‘accumulation of uncertainties’ and to provide compassionate care not only to their patients, and their families, but also to themselves. This second paper delves into the less helpful aspects of ‘certainty’, including the associated losses and griefs endured by parents responding to threatening fears associated with their child's condition. In the extreme, disconnection and psychological isolation borne by parents can lead to a sense of hopelessness and desperation. Facing unwelcome certainties – clinicians and parents together – forms the basis of future trust and hope. Clinicians who share the field of trust with families and show commitment to helping parents, even when cure remains elusive, build a sense of hope. This is the sort of hopefulness that clinicians need to have and to offer as they share the journey with families. In this series, we seek to harness a shared approach to face unwelcome certainties and to kindle a sense of hope that is both credible and meaningful to the parents, family and clinician.

‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases

“…Accordingly, carers and clinicians simultaneously perceive that obtaining a diagnosis is an important but initial stage of an ongoing therapeutic odyssey. 16 , 17 The push to develop and access new therapies aligns with the vision as set out by the International Rare Diseases Research Consortium, whose goal is to facilitate the approval of 1000 new therapies for rare diseases, the majority of which would focus on diseases without approved options, by 2027. 18 However, with over 95% of RNDs currently lacking a recourse to disease modification and many trials being conducted outside of Australia, the discrepancy between stakeholder expectations and realistic access to advanced therapies leaves a gap in which misinformation and uncertainty may predominate.…”

“…Similarly, development of standardised resources that inform the therapeutic journey may enable the unique attributes and complexities of clinical trials in RNDs to be fully understood, empowering carers to partake in informed decision‐making, setting realistic therapeutic expectations, while maintaining hope. 17 Building on these findings, we are partnering with families to co‐design and co‐produce psychoeducational resources featuring their voices. Moving forward, the development of educational resources for young people is also essential.…”

“…While the diagnostic odyssey faced by parents of children with RNDs is well described, 7 this study's findings attest to the perception that a search for a genetic diagnosis may be better conceptualised as a gateway, through which carers perceive that they may obtain educational and therapeutic service, as well as personal utility including reproductive confidence, connection and explanations. Accordingly, carers and clinicians simultaneously perceive that obtaining a diagnosis is an important but initial stage of an ongoing therapeutic odyssey 16,17 . The push to develop and access new therapies aligns with the vision as set out by the International Rare Diseases Research Consortium, whose goal is to facilitate the approval of 1000 new therapies for rare diseases, the majority of which would focus on diseases without approved options, by 2027 18 .…”

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope

“…We have seen in the first two articles 1,2 in this three-part series that uncertainty and certainty around life-limiting, deeply distressing and relationship-impairing paediatric neurological disorders can provide formidable challenges to personal hopefulness for parents, families as well as the affected child. This hopelessness can consolidate into an active despair and bleed into the clinical team's capacity to help professionally and hope personally.…”