Focus of NORD study: Rare disease community’s lived experiences
Large-scale US study by nonprofit also seeks to ID unmet needs of patients
The National Organization for Rare Disorders (NORD) is seeking participants for its survey-based study Living Rare, which aims to better understand the real-world lived experiences of people in the U.S. with rare diseases.
Living Rare, the first large-scale study of its kind in the U.S., seeks to capture the changing unmet needs and challenges faced by rare disease patients over time, according to the nonprofit. The study’s ultimate goal is to identify ways to improve the lives of those who live daily with rare diseases.
“For too long, the full scope of rare disease challenges has been invisible to policymakers, healthcare providers, and researchers,” Janine Lewis, NORD’s director of research operations and coprincipal investigator of the Living Rare Study, said in a written Q&A with Bionews, the parent company of this site.
“This study is designed to change that,” Lewis said. “If you are living or caring for someone with a rare disease, your experience matters — and sharing it through the Living Rare study can help drive real change.”
Collectively, rare diseases affect millions of people across US
The study is open to all individuals in the U.S. who have been diagnosed with a rare disease, think they may have one, or are caregivers to rare disease patients. Interested participants can register online, and NORD strongly encourages them to do so. A step-by-step guide is also available to aid respondents in the registration process.
Additionally, NORD is providing a toolkit of downloadable resources — on a page sporting the graphic “Spread the Word!” — that individuals can use to motivate the participation of others.
“Every participant’s story contributes to a larger movement to improve the lives of those living with rare diseases,” Lewis said. “By taking part, you’re not only advocating for yourself or your loved one, but for the entire rare disease community.”
By definition, a rare disease affects fewer than 200,000 people in the U.S. But collectively, thousands of rare diseases impact the lives of more than 30 million people across the country.
While plenty of data are available for more common diseases such as cancer, diabetes, or heart disease, large-scale studies aimed at systematically understanding the challenges experienced by rare disease patients are lacking, according to NORD. And the resulting lack of information — and a limited understanding of the daily lived experiences and challenges of people with rare diseases — can hinder meaningful progress toward making their lives better.
“If you are living with a rare disease or caring for someone with one, then you have likely encountered several challenges — whether it’s delays in diagnosis, difficulty accessing specialists, financial strain, or a lack of available treatments. But without data, it’s hard to quantify and define these burdens in a way that leads to real change,” Lewis said.
NORD survey asks patients, caregivers to share lived experiences, challenges
Launched last year, Living Rare is the first long-term study at this scale that seeks to track the real-life experiences of the rare disease population. It was created with input from patients and caregivers and, according to the webpage, “is designed to explore various aspects of living with a rare disease.”
After registering, participants are asked to complete a survey covering various topics, including healthcare access and daily life aspects, such as work, school, and finances. The survey also covers the emotional, physical, and social impacts of the participants’ lived experiences.
Lewis noted that the survey is confidential and can be done at any pace, but generally takes about an hour to complete. Participation is intended to be “flexible, confidential, and designed to fit into your life,” Lewis said.
After the initial survey, participants will receive yearly reminders to update their responses so that investigators can “capture a clearer picture of the ongoing challenges and needs within the community,” Lewis said.
This multiyear data will enable investigators to assess, for example, how the needs of children with rare diseases change as they transition through adolescence and adulthood.
All collected data will be stored in NORD’s secure IAMRARE platform. Patients can access IAMRARE to review their own responses, and compare them with data from others in the rare disease community.
Goal of Living Rare study is to amplify patient voices, generate change
The overarching aim of the study, according to Lewis, is to generate “a body of evidence that will help improve healthcare access, expand critical resources, and shape better policies for the rare disease community.”
Lewis highlighted four main ways the survey data will be used, starting with efforts by NORD to highlight issues related to disparities in care, treatment affordability, and diagnostic delays experienced by rare disease patients. The goal, Lewis said, is to support initiatives to improve healthcare access. The survey also seeks to guide the development of more targeted support services and assistance programs.
The more people who join the Living Rare study, the more influential the data, and the stronger our collective voice becomes. … [With these survey data,] we can finally prove what we have always known — that rare diseases are not rare at all, and that our community deserves the same recognition, support, and action as any other public health priority.
Another key objective is to demonstrate the public health impact of rare diseases overall, in order to better advocate for policy changes surrounding issues like insurance coverage, specialist care access, and newborn screening programs.
Finally, Living Rare seeks to elevate the patient’s voice and demonstrate where changes are most needed to improve lives.
Researchers from outside NORD can request access to the data for their studies, but participant confidentially will always be protected under strict safeguards, according to the nonprofit.
Lewis emphasized that ultimately, the study will be strengthened when more people participate.
“The more people who join the Living Rare study, the more influential the data, and the stronger our collective voice becomes,” Lewis said, noting that, with the help of rare disease patients and caregivers, “we can finally prove what we have always known — that rare diseases are not rare at all, and that our community deserves the same recognition, support, and action as any other public health priority.”
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