palliative care needs of children with rare diseases and their families

Conditions: Trisomy 13 Syndrome; Arthrogryposis Congenita Multiplex With Intestinal Atresia; Asparagine Synthetase Deficiency; CHARGE Syndrome; Early Infantile Epileptic Encephalopathy; FOXG1 Syndrome; KBG Syndrome; Noonan Syndrome; Severe Hemophilia A; Short Bowel Syndrome; Beta-Propeller Protein-Associated Neurodegeneration; Brain Injury of Prematurity With Periventricular Leukomalacia; Chromosome 17p13.3 Microdeletion Syndrome; Chromosome 1q43-1q44 Deletion; Cockayne Syndrome; Congenital Diaphragmatic Hernia; End-Stage Renal Disease With Cloacal Anomaly; Mitochondrial Depletion Disorder; Severe Factor VII Deficiency

Summary: the palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making. this trial will test the face-rare intervention to see if investigators can identify and meet those needs; and if face-rare effects family caregivers' quality of life and child healthcare utilization. finally, investigators will determine if the intersectionality of child-sex, family-race, federal poverty level, and social connection influences family quality of life and child health care utilization longitudinally.

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. investigators 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 investigators 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, investigators propose an innovative 3-session face-rare intervention, integrating two evidence-based approaches. investigators 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. investigators will evaluate the effect of face-rare on family quality of life (caregiver appraisal, psychological, spiritual). investigators will assess the palliative care needs of families at four time points. investigators will determine the intersectionality of child-sex, family-race, and household income on family caregiver quality of life and child healthcare utilization. investigators will explore the influence of urban vs. rural setting and religious coping on quality-of-life outcomes. investigators will use advanced statistical methods informed by statistical advice from rare disease investigators for clinical trials in small populations.

Eligibility criteria:
child inclusion criteria: * ≥1.0 years and \<18.0 years at enrollment. * unable to participate in end-of-life care decision-making. * has a rare disease as operationally defined by nih's genetic and rare diseases information center (gard). * not under a do not resuscitate order or allow a natural death order. * not in the intensive care unit. family caregiver inclusion criteria: * \> 18.0 years at enrollment. * child's family caregiver/legal guardian. * not known to be developmentally delayed. support person inclusion criteria: * \> 18.0 years at enrollment. * chosen by family caregiver. * not known to be developmentally delayed. exclusion criteria: * family caregiver or support person is actively homicidal, suicidal, or psychotic at the time of enrollment.

Keywords: pediatrics palliative care rare diseases rare disorders randomized clinical trial advance care planning quality of life social connection intervention spirituality anxiety depression caregiving