A rare disease is a condition affecting fewer than 200,000 persons. 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 often with co-morbidities, resulting in their exclusion from research, thereby creating a health disparity
for this vulnerable population. 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, proven successful with cancer and HIV, is adapted to families with children
who have rare diseases. Theoretically informed and developed by the PI, Lyon, and colleagues, the proposed
intervention will use Respecting Choices Next Steps Pediatric Advance Care Planning™ 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, before 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)© which our investigative team adapted for use in pediatrics. In the CSNAT Approach, facilitators
assess caregivers' prioritized palliative care needs and develop Shared Action Plans for palliative care 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, single-blinded,
randomized controlled trial design. Family/child pairs or dyads (N=30 dyads) will be randomized to FACE-Rare
(CSNAT Sessions 1 & 2 plus Respecting Choices Sessions 3) or control (Treatment As Usual) groups. Both
groups will receive palliative care information. All families will complete questionnaires at baseline and 3-
months follow-up. Investigators will evaluate the initial efficacy of FACE-Rare on family quality of life
(psychological, spiritual). We will estimate how religiousness and caregiver appraisal influence families' quality
of life. We will also explore health care utilization by the children during the study and family satisfaction.
If the aims of this pilot trial are achieved, a future, large, multi-site trial will test the full theoretical model to
improve care for children with rare diseases and their families through family engaged pediatric Advance Care
Planning. The ultimate goal is to minimize suffering and enhance the quality of life of family caregivers of
children with rare diseases; and through this process to improve the palliative care of their children.