Vanessa Boulanger, M.Sc.
Director of Research Programs, National Organization for Rare Disorders (NORD)
Rare disease patients and their families are encountering challenges due to the COVID-19 pandemic, in addition to the obstacles to diagnosis and treatment they regularly face.
In the United States, over 25 million patients and families affected by rare diseases are currently managing a new set of challenges brought on by the novel coronavirus, COVID-19. These unprecedented times have upset the balance of a healthcare system that already was cumbersome for people living with rare diseases.
Patients typically face an uphill battle trying to find a diagnosis, often encountering a lack of treatment options, necessitating extensive travel to be seen by disease-specific experts, while dealing with the precariousness of participating in research or clinical trials — all in tje hopes of a chance at improved quality of life.
Now, rare patients and their family members are experiencing added impacts and life disruptions — including the fear of being at greater risk for COVID-19, financial instability, canceled medical appointments and clinical trials, concerns regarding drug shortages, and more.
Taking a poll
With the goals of shining a light on these issues and to better understand the challenges faced by the rare community in order to provide supportive resources, the National Organization for Rare Disorders (NORD®) surveyed the rare community in April and June 2020.
The results of those surveys were published in a two-part COVID-19 Community Survey Report through NORD’s RareInsights™ program, an initiative to expand public knowledge of rare diseases and translate that knowledge into real-world solutions. The report reveals the far-reaching impact the pandemic is having on rare patients and families, reflecting a community directly affected by and overwhelmingly concerned about the pandemic.
The report showed that six months into the public health crisis, 92 percent of people with rare diseases remain affected and 94 percent are worried about COVID-19. In April, 74 percent who responded said they had a medical appointment canceled, and that number rose to 79 percent in June. Eighty-eight percent of those offered a telemedicine accepted it and 92 percent of those who accepted said it was a positive experience.
Hope during a pandemic
Amidst the disruptions to traditional modes of care, telemedicine has emerged as a bright spot for many people with rare diseases to safely and confidently access medical care without risking exposure to COVID-19. Since the start of the outbreak, access to telemedicine has increased, with 83 percent of surveyed respondents reporting they had been offered a telemedicine visit in June, compared to 59 percent in April.
As part of its response to the evolving COVID-19 situation, NORD’s policy team is working to protect access to necessary medical treatments including telemedicine, home infusions, and medication refills, and is advocating to the Department of Health and Human Services, and state health departments to ensure rare disease patients are not discriminated against during COVID-19 care and triaging.
Elevating the challenges and concerns of the rare disease community around COVID-19 and other issues in order to encourage evidence-informed action is a top priority at NORD. This month, the U.S. Food and Drug Administration (FDA) and NORD will co-host a virtual listening session, during which patients and caregivers will have the opportunity to share their experiences of living with a rare disease during a pandemic, and ask questions directly to FDA staff in advance.
For information on the resources referenced in this article, and other NORD events and initiatives, please visit www.rarediseases.org.