Family and friends caring for people with rare diseases face emotional, financial, physical, and social burnout, partly because outside sources of support are limited, the first-of-its-kind U.S. survey shows.
It covered 1,406 family members caring for adults or children with a rare disease.
More than 400 diseases were represented, including pulmonary arterial hypertension, or PAH, which accounted for 4 percent of those surveyed, and cystic fibrosis, 9 percent.
A key but perhaps unsurprising finding was strong bonds between caregivers and patients. Sixty-two percent of the caregivers are taking care of a child under the age of 18. Eighty-nine percent live in the same house. In 70 percent of cases, the disease has a genetic cause.
The most time-consuming task that caregivers face is helping patients manage their symptoms. Eighty-two percent of patients are taking treatments for symptoms.
Thirty-four percent of caregivers reported difficulty obtaining access to therapies their family members need to manage symptoms. And 31 percent report difficulty obtaining access to treatment for the underlying cause of their family member’s disease.
One in four people with a rare disease has participated in a clinical trial, the caregivers reported.
Those caring for children with rare diseases reported spending an average of 53 hours a week on the task. This compared with 30 hours for those caring for children with a health condition that was not a rare disease — a difference of 23 hours.
The same pattern was seen in adult care giving. Thirty-seven hours a week was spent on those with a rare disease, versus 25 hours on adults without one.
“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 caregivers are providing time-intensive care — 8.9 years on average — and it is a demanding commitment.”
Family and friends who provide care are at the forefront of communication about rare disease care and advocacy, the survey showed. Ninety-four percent said they are involved in these efforts.
Eighty-nine percent said they educate healthcare professionals about the rare disease affecting the person they care for. Eighty-four percent said they help with medical or nursing tasks.
Another finding was that rare disease caregivers devote considerable energy to searching for clinical trials that could help those they care for. They also help with tasks that allow patients to participate in trials. Seventy-seven percent said they do trial-related paperwork, 65 percent transport patients to trials, 62 percent do trial response documentation, and 59 percent coordinate patient care.
The emotional toll in rare disease caregiving is high, the survey showed. Sixty-seven percent of caregivers say they are emotionally burdened — twice the figure of general caregivers. Fifty-three percent report feeling alone, 51 percent said they had difficulty maintaining friendships, and 37 percent reported considerable physical strain.
The financial burden has led to 59 percent of caregivers having no savings, and 9 percent filing for bankruptcy.
“Despite the impact of caregiving, we see that rare caregivers are not reaching out for support services,” said Nicole Boice, the founder and CEO of Global Genes. “Only 33% report use of paid help or aides, 22% have used respite [to obtain breaks from care], and 14% rely on 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.”
Although 48 percent of caregivers said a healthcare professional or social worker asked them what they needed to provide care, just one in four caregivers said they discussed their own needs.
Rare disease caregiving also has a disruptive role on families. Twenty-four percent of caregivers report that teens in their family help them with caregiving. One in 10 rare disease caregivers said they are still in school but not capable of fulfilling their school responsibilities.
Almost 60 percent of those responding to the survey said they received help from at least one other unpaid caregiver. Only 35 percent report having a backup plan if they reach the point where they are no longer able to provide care.
Members of the rare disease community will discuss the survey results with members of Congress this spring. The goal is to raise awareness and discuss policy recommendations for rare disease caregivers.
One policy recommendation is shoring up the health of family caregivers by coming up with ways to give them relief from their task and access to counseling. Another recommendation is coming up with ways to guarantee them financial security and workplace protection.
Additional recommendations are providing family caregivers with training for their tasks, coming up with ways to help them coordinate better with other healthcare players, and expanding community-level services and support for what they are doing.
The full report and additional material are available here.