Rare Disease Caregiving

Rare Disease Caregiving

The National Alliance for Caregiving, in partnership with Global Genes, is proud to present Rare Disease Caregiving in America (February 2018), a national study of 1,406 unpaid caregivers ages 18 and over living in the United States who provide care to a child or adult with a rare disease or condition. The National Institutes of Health estimates that there are approximately 7,000 rare diseases. In this study, over 400 unique rare diseases and conditions were captured, with the most commonly mentioned rare conditions as follows: Cystic Fibrosis (9%), Pulmonary arterial hypertension (4%), Atypical hemolytic uremic syndrome (2%), Ehlers-Donlos syndromes (2%), Fabry disease (2%), Congenital central hypoventilation syndrome (2%), and PANDAS (2%).

An independent Advisory Committee of national caregiving experts, clinicians, and patient/caregiving advocates reviewed the survey questionnaire, initial report findings, and final report before its release. Researchers at Greenwald & Associates administered the survey and conducted the data analysis.

The research made possible through funding from the following organizations:

The Allergan FoundationAlexion Pharmaceuticals Inc., Amgen, Amicus Therapeutics, Biogen, the Family Support Research and Training Center (FSRTC) at the University of Illinois-Chicago, Mallinckrodt Pharmaceuticals, Retrophin, Shire, Ultragenyx Pharmaceutical, Inc., and Vertex Pharmaceuticals

For questions or comments about the study, please contact the Alliance at (301) 718-8444 or info@caregiving.org

National Report: Rare Disease Caregiving in America

Rare Disease Caregiving in America (February 2018) (PDF)
Rare Disease Caregiving in America (February 2018) is a national research study capturing the experiences of more than 1,400 family caregivers of children and adults with a rare disease, condition, or disorder across 400 different diseases. Findings in this first-of-its-kind national snapshot paint a picture of friends and families facing emotional, financial, physical, and social strain with little support from outside resources.

Appendix A – Rare Caregivers Questionnaire
This is the survey questionnaire that was used in the Rare Disease Caregiving in America research study.

Appendix B – Full List of Rare Diseases, Conditions, or Disorders
This is the list of rare diseases, disorders, and conditions captured in the Rare Disease Caregiving in America research study.

Portrait of a Rare Caregiver
A one-page snapshot of the findings from the Rare Disease Caregiving in America study.

Media Releases
Media releases from the national study.

Advisory Committee

Arunabh Talwar MD, FCCP
Professor Medicine
Hofstra Northwell School of Medicine
Director, Advanced Lung Disease Program
Pulmonary Critical Care Sleep Medicine
Department Internal Medicine

Amy Brin Miller, MSN, MA, PCNS-BS

Executive Director

Child Neurology Foundation

Erica Ramos, MS, LCGC

Clinical Head, Healthy Genomes and Staff Genetic Counselor, Illumina

President-Elect, National Society of Genetic Counselors

Jack Whelan
Patient-Research Advocate
Rare Blood Cancers and Metastatic Prostate Cancer

Jean Campbell

Principal, JF Campbell Consultants

Co-Founder, Professional Patient Advocates in the Life Sciences

Karen Shubert

Family Caregiver, for daughter with Alternating Hemiplegia of Childhood

Laura Bonnell

President, The Bonnell Foundation

Lynn Adams, PhD

Scientist, Palliative Care and End-of-Life

Mousumi Bose, PhD

Assistant Professor in Applied Nutrition, Montclair State University

Medical/Scientific Research Liaison, The Global Foundation for Peroxisomal Disorders

Former Family Caregiver and Mother to Ilan, 8.18.2010-10.23.2011

Pat Furlong

President/Founder, Parent Project Muscular Dystrophy

Former Family Caregiver and Mother to Christopher and Patrick

Tamar Heller, PhD

Professor and Head, Disability and Human Development

Director, Institute on Disability and Human Development (UCEDD)

Director, Rehabilitation Research and Training Center on Aging with Developmental Disabilities

University of Illinois at Chicago: Institute for Health Research and Policy

Sameer Verma, M.D.

Clinical Research Coordinator

Pulmonary, Critical Care & Sleep Medicine

Northwell Health

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