Rare Disease Caregiving Study

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 launching a “first-of-its-kind” national snapshot of rare disease caregivers. This fall, the two groups plan to release a national survey aimed at collecting feedback from over 1,000 family caregivers of children and adults with rare diseases. The survey will be open from Wednesday, September 13 through Tuesday, October 31, with a final report anticipated in early 2018.

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.

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.


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

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