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Rare Diseases Q1 2021

The importance of telehealth for rare diseases

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Lisa P. Sarfaty

MPH, Director of Strategic Planning, National Organization for Rare Disorders (NORD)

Healthcare must realise all of the opportunities of telehealth – especially for rare diseases, where it can help patients and the barriers they often face.

Before the pandemic changed life as we know it, telehealth made up a miniscule portion of total healthcare visits across the U.S. (less than 0.01%). By mid-April of 2020, that number had skyrocketed to 69%.1 While the concept is not new, patients could not always access it.

For the past year, we have 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 during this time. These include helping them feel safer, eliminating days of travel to and from doctor visits and moving forward with clinical trials that would have been delayed despite their own or a loved one’s progressive decline in health.

Travel remains a key barrier to care

In the absence of telehealth, patients travel long distances to access their treating provider, often experiencing long waits for appointments. Eighty per cent of patients with rare diseases are treated by at least one specialist.

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 immunocompromised, putting them at greater risk for complications from COVID-19 and other illnesses if exposed.

We may not be able to control how the cards are dealt, but we can control how we respond.

Telehealth can improve clinical trial participation

Clinical research is needed for rare diseases, as approximately 90% of the 7,000 rare diseases2 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.

Simultaneously, patient interest in clinical trials is at an all-time high, with nearly 90% interested in using an investigational treatment. We are seeing how telehealth can help to decentralise clinical trials, reduce the need for travel and increase participation with remote monitoring devices, to name some potentials.

Working collaboratively for a better future  

We will continue to advocate on this front. Together, with a coalition of patient organisations, we developed telehealth principles to guide policymakers, to help ensure that millions of people with pre-existing and chronic conditions can safely and equally access appropriate telehealth services going forward.

One thing that the pandemic has taught us, is how to pivot in the face of the unknown. For patients, having a rare disease is filled with many unknowns. We may not be able to control how the cards are dealt, but we can control how we respond. With continued information sharing and collaboration among experts, scientists, health care workers and advocates, together we will come out stronger.

[1] “Telehealth: Fad or the Future.” Epic Health Research Network, August 18, 2020. https://www.ehrn.org/telehealth-fad-or-the-future/ | [2] https://rarediseases.org/wp-content/uploads/2019/02/nord-rareinsights-rd-facts-2019.pdf (source listed as 2.) Genetic and Rare Diseases Information Center; National Center for Advancing Translational Sciences; FAQs About Rare Diseases; 11/30/2017.https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases) | [3] “COVID-19 Community Survey Follow-Up Report.” National Organization for Rare Disorders (NORD), August 4, 2020. https://rarediseases.org/wp-content/uploads/2020/11/NRD-2061-RareInsights-CV19-Report-2_FNL.pdf

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