Palliative Care Needs of Children with Rare Diseases and their Families

Pediatric patients with rare diseases experience high mortality with 30% not living to see their 5th birthday. Families are likely to be asked to make complex medical decisions for their child. Pediatric advance care planning involves preparation and skill development to help make future medical care choices. Children with rare disorders are a heterogeneous group, resulting in their exclusion from research. Available research on families of children with rare diseases lacks scientific rigor. Although desperately needed, there are few empirically validated interventions to address these issues. We propose to close a gap in our knowledge of families’ needs for support in a heterogeneous group of children with rare diseases; and to test an advance care planning intervention. The FAmily CEntered (FACE) pediatric advance care planning intervention is adapted to families with children who have rare diseases. Theoretically informed and developed and adapted by the principal investigator and key stakeholders, the proposed intervention will use Respecting Choices Next Steps Pediatric ACP™ for families whose child is unable to participate in health care decision-making. Our consultation with families of children with rare disorders and the National Organization for Rare Disorders (NORD) revealed that basic palliative care needs should be addressed first, prior to an advance care planning intervention. For the study to be able to meet this request, all families randomized to the intervention will first complete the Carer Support Needs Assessment Tool (CSNAT)© adapted by our team for use in pediatrics. In the CSNAT Approach, facilitators assess caregivers’ prioritized palliative care needs and develop Shared Action Plans for increasing informal social support. Thus, we propose an innovative 3-session FACE-Rare intervention, integrating two evidence-based approaches. We will evaluate FACE-Rare using a scientifically rigorous intent-to-treat, assessor-blinded, longitudinal, prospective, three-site, randomized controlled trial design. Family/child triads (N=160) will be randomized to FACE-Rare (CSNAT Sessions 1 & 2 plus Respecting Choices Sessions 3) or an enhanced information Treatment as Usual control group. All families will complete questionnaires at baseline and follow-up at 3-, 6- and 12 months. We will evaluate the effect of FACE-Rare on family quality of life (caregiver appraisal, psychological, spiritual). We will assess the palliative care needs of families at four time points. We will determine the intersectionality of child-sex, family-race, and household income on family caregiver quality of life and child healthcare utilization. We will explore the influence of urban vs. rural setting and religious coping on quality-of-life outcomes. We will use advanced statistical methods informed by statistical advice from rare disease investigators for clinical trials in small populations.