Rare Disease Caregiving Study

As many as 30 million Americans are affected by a rare disease or condition, and many of these individuals receive unpaid care from friends, family, and neighbors. While much of the focus on caregiving has historically been on the aging population in America, policymakers are beginning to take notice of the impact of caring for rare disease patients on the volunteer friends and family who provide care, known as “family caregivers.” Many people who have rare diseases are misdiagnosed or undiagnosed, leaving their family caregivers to experience unique challenges related to access to appropriate medical care and medications, and the emotional burden associated with the uncertainty of managing the disease and its prognosis.


To study the impact of rare disease on unpaid friends and family members who provide care (known as “family caregivers”), the National Alliance for Caregiving and Global Genes, are leading a “first-of-its-kind” national snapshot of rare disease caregivers. 


The survey was fielded in September and October 2017, capturing more than 1,400 perspectives of caregivers of adults and children with rare diseases. Survey data are currently being aggregated, analyzed, and interpreted in preparation for a final report release in Feburary 2018.


About the Study

The Caregivers of People with Rare Diseases study includes an independent advisory committee, listed below. This committee has reviewed the survey questionnaire and will review the data before its release. Researchers at Greenwald & Associates will administer the survey and conduct the data analysis, in partnership with the National Alliance for Caregiving and Global Genes. 


Patient advocacy communities working in rare disease are encouraged to invite caregivers to participate in the online survey. After fielding, the data will be collected, cleaned, and aggregated into the final report. The final report will be released at a Capitol Hill briefing for Members of Congress, including the Rare Disease Congressional Caucus.


The research is made possible through generous grant funding from the following partners: Allergen Foundation, Alexion, Amgen, Amicus Therapeutics, Biogen, Mallinckrodt Pharmaceuticals, Retrophin, Shire, Ultragenyx, and Vertex Pharmaceuticals.


To learn more about the study, please see the study announcement here.


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