Entrance to 2021 World Orphan Drug Congress in National Harbor, Maryland. Credit: Larry Luxner

NATIONAL HARBOR, Maryland — Despite the ravages of COVID-19, the future has never looked brighter for the world’s estimated 300 million people with rare diseases, a top executive at Sanofi Genzyme suggested.

Shannon Resetich, the company’s global franchise head for rare diseases, spoke on August 26, 2021, at the opening of the World Orphan Drug Congress USA 2021 — an annual conference that’s being held in person for the first time since 2019.

“There are people in this room directly impacted by rare diseases,” she said. “To you, I have a message: we see you, we hear you, and we are here to support you.”

The executive, whose division is responsible for driving more than $2 billion in revenue from rare-disease therapies, said “the rare disease area has historically been distinguished by unique challenges, but also incredible triumphs, thanks to advances in precision medicines that have not been seen elsewhere in health care.”

“A person with a rare disease may feel confused, alone, and fighting for his or her life, or that of their child. Worse, they might not yet know the cause of their issues,” she said. “It can take up to 10 years to accurately diagnose a rare disease. In those 10 years, imagine the quality of life for not only this person living in uncertainty, but also their families who support them and often feel powerless to help.”

Resetich noted that last year, the US Food and Drug Administration approved 22 orphan drugs “despite the challenges presented by COVID-19.”

There’s also been a “tremendous growth in international collaboration,” she said, pointing to a global call to action for a United Nations resolution by the nonprofit coalition Rare Disease International. 

“This kind of partnership is critical to innovation,” she said. “Though most of the 7000 known rare diseases remain without an approved treatment, there’s reason to believe that dramatic changes are within our grasp. We can rethink and redefine how to drive progress.”

In a recent survey of 800 rare disease patients by the National Organization for Rare Disorders (NORD) that Resetich cited, 88% said they’ve accepted a telehealth appointment during the pandemic, and more than 90% said it was a positive experience, with 70% saying they’d take advantage of the telehealth option going forward.

A similar survey of 6945 rare disease patients in 36 European countries, conducted by Paris-based Eurordis, found that 50% had participated in online consultations, with 90% of them finding the experience useful. 

“We are moving into a new era of care for rare disease management,” Resetich said. “While we may face new challenges in the future, I’m confident we will overcome them together.”


Patients as partners in innovation: outlook on trends in an evolving rare disease ecosystem. Presented at: World Orphan Drug Congress USA 2021: August 26, 2021; National Harbor, MD.