The Importance of Telehealth for Rare Diseases

Healthcare must reflect all of the opportunities of telehealth, but especially so for those suffering from rare diseases.

Before the pandemic, telehealth made up less than 0.01% of healthcare visits across the United States. By mid-April of 2020, that number had skyrocketed to 69%. While the concept is not new, patients could not always access it. Then, as a result of patient advocacy efforts, the COVID-19 public health emergency declaration expanded access to telehealth. This was welcome news for patients, especially those living with rare diseases.

The importance of telehealth

Why is telehealth important for people with rare diseases? For the past year, the team at the National Organization for Rare Disorders (NORD) has been working to help the rare disease community safely navigate the pandemic. Patients and caregivers have joined us to advocate for expanded access to telehealth, and hundreds have told us about its positive effects.

These include helping them feel safer, eliminating days of travel to and from doctor visits, and moving forward with clinical trials that would have otherwise been delayed.

In the case of many rare diseases, there are only a handful of experts nationwide, or even worldwide, with expertise in certain conditions. In the absence of telehealth, patients travel long distances to access their treating provider, often experiencing long waits for appointments. Such travel can be costly, often results in missed work or school, and presents logistical challenges that can be overwhelming or insurmountable when there is severe burden of illness. Not least of all, travel can pose health risks because many patients with rare diseases are immune-compromised, putting them at greater risk for complications from COVID-19 and other illnesses.

Participation in clinical research is another important area to examine when looking at the role of telehealth. Clinical research is needed for rare diseases, as approximately 90% of the 7,000 rare diseases still do not yet have an FDA-approved treatment.

Clinical trials are essential to this process, yet many patients struggle to participate when the clinical trials take place far from home.

Knowing about the uphill challenges that exist, it is easy to understand how COVID-19 has had a significant impact for more than 25 million Americans living with rare diseases. During the pandemic, nearly 8 in 10 rare disease patients experienced canceled medical appointments.

A ray of hope

Despite disruptions to care, a ray of hope emerged with the rise of telehealth: 83% of rare disease patients were offered a telehealth visit by their provider, 92% of those who had a telehealth visit described it as a positive experience, and 70% would like the option for future medical appointments. These numbers show that the demand for telehealth among rare disease patients is strong. With continued information sharing and collaboration among experts, scientists, healthcare workers, and advocates, together we will come out stronger.

Lisa P. Sarfaty, M.P.H., Director of Strategic Planning, National Organization for Rare Disorders (NORD)