Understanding What Rare Disease Caregivers Face

September 26, 2017

Caregivers of patients with rare diseases are providers, protectors, and advocates. They have forced themselves to learn the language of biomedical researchers as they have ploughed through scientific literature. Some have given up careers, battled insurance companies, faced financial ruin, all in an effort to find for their children or other loved ones answers, treatments, and perhaps even a cure.

There is a selflessness to the caregiver. They will advocate for their family member with schools, policymakers, and the healthcare system. They will advocate for biomedical research. They will advocate for regulations that accelerate the delivery of therapies to patients. What they often neglect to do, though, is advocate for themselves.

Talk about caregivers in the policy realm, and the thoughts are often of adult children caring for their aging parent who suffer from Alzheimer’s disease, cancer, or some other condition that has rendered them unable to care for themselves. The rare disease community is often overlooked in such discussions.

While caregivers of all kinds face many of the same issues, regardless of for whom they care, there’s also reason to believe that caregivers in rare disease families may face unique issues. There may be no diagnosis or treatment available for their loved one. There may be siblings who share the burden of caregiving. And they may face a unique emotional, social, and psychological toll from their situations.

The National Alliance for Caregiving, a nonprofit research and advocacy organization is working with the patient advocacy organization Global Genes (the publisher of Rare Daily), to conduct a first-of-its kind survey to determine the impact of rare disease on family caregivers. The results are expected to be released at the end of February 2018 during Rare Disease Week and will be shared with policymakers during a Capitol Hill briefing expected to include members of the Rare Disease Congressional Caucus. It is also expected to inform federal agencies, health care providers, insurers, and researchers about the needs of people who are caring for someone with a rare disease.

“We need to tell congress and other policymakers why rare disease families matter. We do that on an individual disease level,” said C. Grace Whiting, chief operating officer of the National Alliance for Caregiving. “We talk about the biomedical impact or rare disease and the need for therapies, but what we haven’t talked about what we are doing for families dealing with this here and now and we leave a lot of rare disease families out of the national conversation about caregiving support.”

For now, getting the participation of rare disease caregivers is the critical issue. The early responses have come largely from women. Men, it turns out, often don’t think of their role in caregiving. Instead, they consider what they do as just being a parent.

But the information from the study will provide an important insight into the life of rare disease caregivers and the support they need in the workplace, from healthcare providers, from social networks, and others.

The survey can be taken online at It is expected to remain open through October 31. The organizations are seeking to survey up to 1,500 caregivers for the study. The study takes about 20 minutes to complete and is anonymous. Personal information will not be shared or sold.

“We want to quantify the impact that a rare disease can have,” said Nicole Boice, founder and CEO of Global Genes, “not just on the person facing the disease, but on the community of people caring for that person.”

September 26, 2017

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