Report Calls Attention to Burden of Rare Disease Caregivers

Janet Stewart, MSc avatar

by Janet Stewart, MSc |

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Caregivers of people with rare diseases face emotional, financial, physical, and social strain and receive little outside support, a U.S. study found.

The findings will be presented to Congress this spring along with policy recommendations to help support those caring for people with rare diseases. The report is titled “Rare Disease Caregiving in America.”

The National Alliance for Caregiving, in partnership with Global Genes, released the findings of the online study conducted in late 2017 by Greenwald & Associates. The study included 1,406 unpaid caregivers in the U.S., aged 18 years and over, who provide care to a child or adult with a rare disease or condition. At least 25 million Americans are in this category.

The National Institutes of Health estimates there are roughly 7,000 rare diseases. More than 400 rare diseases and conditions were covered in the caregiver study, with cystic fibrosis accounting for 9 percent of the cases and pulmonary arterial hypertension for 4 percent.

There is a strong family connection between caregivers and recipients, with 62 percent caring for a child, the report showed. Eighty-nine percent of caregivers live in the same household as the care recipient. Seventy percent of the recipients’ disease or condition has a genetic cause.

Thirty-four percent of caregivers said they have had trouble accessing symptom management care. Thirty-one percent said they had difficulty accessing treatment for the underlying cause of their care recipients’ disease.

A fourth of the care recipients had participated in a clinical trial.

“This study shows that rare caregiving fundamentally alters the daily life of friends and family for many years,” C. Grace Whiting, the president and CEO of the National Alliance for Caregiving, said in a press release. “Most rare [disease] caregivers are providing time-intensive care — 8.9 years on average — and it is a demanding commitment.”

Those providing care to adults with a rare disease or condition spend an average of 37 hours a week on the task — 12 more hours than caregivers helping those with other conditions. Those caring for a child spent even more time — an average of 53 hours a week for someone with a rare disease, compared with 30 hours for those caring for a child  with other conditions.

“The friends and family who care for someone with a rare disease really become experts and the ‘voice of care,'” said Nicole Boice, the founder and CEO of Global Genes.

Ninety-four percent become involved in care communication and advocacy work. Eighty-nine percent educate healthcare professionals about their care recipient’s condition, and 84 percent help with medical or nursing tasks.

Caring for those with a rare disease comes with a lot of stresses and strains. Seventy-four percent of caregivers report struggling with a sense of loss about what their care recipient’s life could have been. And 67 percent report emotional stress —  twice as high as that for those caring for people with other conditions.

In addition, 53 percent report feeling alone, 51 percent say it’s hard for them to maintain friendships, and 37 percent say they experience a lot of physical strain in their caregiving role.

Other findings were that 59 percent of caregivers had exhausted their savings, and 9 percent had filed for bankruptcy.

“Despite the impact of caregiving, we see that rare [disease] caregivers are not reaching out for support services,” Boice said.

Only 37 report using paid help or aides. Twenty-two percent said they had used respite services that gave them short rest periods. And 14 percent reported using an outside transportation service.

“The study uncovers a missed opportunity in the communication the rare [disease] caregiver has with healthcare practitioners,” Whiting said. “We need to create a dialogue that includes the needs of the rare caregiver.”

Only one in four caregivers had conversations with healthcare providers or social workers about their own care needs, according to the report.

Findings from the report will be presented during a Capitol Hill briefing for members of Congress this spring.

The report’s policy recommendations include taking steps to maintain family caregivers’ health, providing caregivers who need it with counseling, offering caregivers training and information, and ensuring their financial security. A caregiver should be seen as a vital member of a healthcare team, the report contended, adding that care coordination between health providers and family caregivers needs to be improved.

The report and related materials are available at

The National Alliance for Caregiving is a non-profit coalition of organizations focusing on advancing family caregiving. Global Genes is a rare disease patient advocacy organization.