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Family caregivers of children and adolescents with rare diseases: a novel palliative care intervention
  1. Maureen E Lyon1,
  2. Jessica D Thompkins2,
  3. Karen Fratantoni3,
  4. Jamie L Fraser4,
  5. Sandra E Schellinger5,
  6. Linda Briggs5,
  7. Sarah Friebert6,
  8. Samar Aoun7,8,
  9. Yao Iris Cheng9 and
  10. Jichuan Wang9,10
  1. 1 Adolescent and Young Adult Medicine, Children's National Health System, Washington, DC, USA
  2. 2 Center for Translational Research, Children's National Health System, Washington, DC, USA
  3. 3 Complex Care Program, Children's National Health System, Washington, DC, USA
  4. 4 Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA
  5. 5 A Division of C-TAC Innovations, Respecting Choices, Washington, DC, USA
  6. 6 Palliative Care, Akron Children's Hospital, Akron, Ohio, USA
  7. 7 Perron Institute for Neurological and Translational Science, Perth, Western Australia, Australia
  8. 8 School of Psychology and Public Health, La Trobe University, Melbourne, Victoria, Australia
  9. 9 Biostatistics, Children's National Health System, Washington, DC, USA
  10. 10 Center for Translational Science, Children's National Health System, Washington, DC, USA
  1. Correspondence to Dr Maureen E Lyon, Adolescent and Young Adult Medicine, Children's National Health System, Washington, DC 20010, USA; mlyon{at}


Objective To develop and pilot test a palliative care intervention for family caregivers of children with rare diseases (FAmily-CEntered pediatric Advance Care Planning-Rare (FACE-Rare)).

Methods FACE-Rare development involved an iterative, family-guided process including review by a Patient and Family Advisory Council, semistructured family interviews and adaptation of two evidence-based person-centred approaches and pilot testing their integration. Eligible families were enrolled in FACE-Rare (the Carer Support Needs Assessment Tool (CSNAT) Approach Paediatric sessions 1 and 2; plus Respecting Choices Next Steps pACP intervention sessions 3 and 4). Satisfaction, quality of communication and caregiver appraisal were assessed.

Results Parents were mean age 40 years, and children 7 years. Children’s diseases were rare enough that description would identify patients. All children were technology dependent. Telemedicine, used with four of seven families, was an effective engagement strategy and decreased subject burden. Families found FACE-Rare valuable following a strategy that first elicited palliative care needs and a support plan. Eight families were approached for pilot testing. Of the seven mothers who agreed to participate, six began session 1, and of those, 100% completed: all four FACE-Rare sessions, baseline and 2-week postintervention assessments, and a written pACP which described their preferences for medical decision-making to share with their providers. 100% reported FACE-Rare was helpful. The top three CSNAT concerns were: knowing what to expect in the future, having enough time for yourself and financial issues. Benchmarks were achieved and questionnaires were acceptable to parents and thus feasible to use in a larger trial.

Conclusions FACE-Rare provides an innovative, structured approach for clinicians to deliver person-centred care.

  • rare disease
  • pediatric advanced care planning
  • decision making
  • family caregiver
  • palliative care needs
  • intervention
  • end-of-life

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Data may be obtained from a third party and are not publicly available.

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Data availability statement

Data may be obtained from a third party and are not publicly available.

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  • Correction notice This article has been corrected since it was published Online First. Affiliations for Samar Aoun have been updated.

  • Contributors MEL is the principal investigator and together with JW conceived and designed the study, analysed and interpreted the data, and drafted the article. JDT, KF, JLF, LB, SES, SF, YIC and SA contributed to the concept, design, analyses, collection of data, verification of data and interpretation of data for this manuscript and approved the final manuscript as submitted. JW and YIC analysed and verified all of the data. All authors have read and gave final approval of the version to be published.

  • Funding Research reported in this publication received no specific grant from funding agencies in the public, commercial or not-for-profit sectors. MEL used her Center for Translational Science departmental academic fund to support this research.

  • Disclaimer The authors report no conflicts of interest.

  • Competing interests LB is the cocreator of the Respecting Choices Next Steps ACP intervention. She receives a small royalty.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Press Release Families of children with rare diseases more receptive to advanced care planning when provided in tandem with caregiver support Caregivers for children with serious rare diseases are more open to these challenging discussions when caregiver needs assessments are integrated into the process WASHINGTON—(June 2019)—A novel palliative care intervention developed at Children’s National Health System for caregivers of children and adolescents with rare diseases has shown preliminary success at helping families talk about potentially challenging medical decisions before a crisis occurs. “Our goal was to find out if it the tools we’ve developed are feasible and not too burden some for the caregivers of children and adolescents with rare diseases,” says Maureen Lyon, Ph.D., a clinical psychologist at Children’sNational who leads the Family Centered Advance Care Planning Team (FACE) within the Center for Translational Research at Children’s National. “Developing the tool with their needs in mind was crucial because these families are already doing so much—including many tasks that used to be only done in a hospital inpatient setting.” The approach was tested in a small sample of families whose children receive medical care at from through the Complex Care Program at Children’s National. The findings from this preliminary study were recently published in the journal BMJ:Supportive and Palliative Care %5BJS1%5D . The intervention, which was guided by family feedback including review by the Patient and Family Advisory Council as well as families from the Leukodystrophy and Myelin Disorders Program at Children’s National, includes two evidence-based modules:· A caregiver needs assessment, based on the validated CSNAT Approach· An advanced care planning discussion, adapted specifically for families of children with rare diseases based on the validated Next Steps: Respecting Choices curriculum. The two modules were delivered through four sessions led by two seasoned registered nurses who are familiar with the population. All families rated the sessions as useful and helpful, and while emotionally intense, not harmful in any way. In addition, feedback indicated that the last two sessions were best combined into one, longer session that co incided with an existing medical visit. The adapted CSNAT needs assessment allowed the research team to collect some additional important information about the pressing needs and top priorities of the caregivers, which included:· Knowing what to expect in the future· Having personal time to recharge· Financial challenges “It’s important to strike the right balance of relatability and knowledge so families know they aren’t alone in this journey,” says Jessica Thompkins, BSN, RN, CPN, research nurse coordinator for the FACE program, who facilitated the CSNAT sessions with families. “Families and their care providers both want to have these conversations ahead of time to avoid having to make important medical decisions in a crisis situation. But we have to first help them address their immediate needs, which will open the door to the right environment for these conversations.” This is the first time these two separate tools have been combined into a single comprehensive program. It is also the first time that the CSNAT, originally designed for caregivers of adults in hospice care, has been adapted for use in a pediatric population. The team also had to tailor the Next Steps: Respecting Choices curriculum, which was first applied at Children’s National to give adolescents with HIV a voice in their own advanced care planning decisions, for use in this context, to make sure the tools speak to these caregivers, who are often the only voice for the needs of non verbal or non communicative children. “There are few tools developed to tackle these challenging topics for pediatric populations in general. Even fewer look at the serious needs of the people who care for them and how we can deliver important information to help them make the best decisions possible for their families and themselves,” says Dr. Lyon. “This preliminary study gives us a good idea of where we need togo next to scale up these tools and give more families and care providers the confidence to have these conversations.” # # # About Children’s National Children’s National Health System, based in Washington, D.C., has served the nation’s children since 1870. Children’s National is one of the nation’s Top 5 pediatric hospitals and, for a second straight year, is ranked No. 1 in new born care, as well as ranked in all specialties evaluated by U.S. News & World Report. It has been designated two times asa Magnet® hospital, a designation given to hospitals that demonstrate the highest standards of nursing and patient care delivery. This pediatric academic health system offers expert care through a convenient, community-based primary care network and specialty outpatient centers in the D.C. Metro politan area, including the Maryland suburbs and Northern Virginia. Home to the Children’s Research Institute and the Sheikh Zayed Institute for Pediatric Surgical Innovation, Children’s National is the seventh-highest NIH-funded pediatric institution in the nation. Children’s National is recognized for its expertise and innovation in pediatric care and as a strong voice for children through advocacy at the local, regional and national levels. For more information, follow uson Facebook and Twitter. %5BJS1%5D Linkto study when available.