EE Dares to be Rare: Rare Disease Day 2019

This February 28 marks the 12th Annual Rare Disease Day, a worldwide campaign to bring about critical awareness for rare diseases. This campaign, while primarily targeted to the general public, also seeks to cultivate discussion surrounding rare disease with policymakers, industry representatives, researchers, and health professionals.

At Emily’s Entourage (EE), our ultimate goal is to accelerate research and drug development for those with nonsense mutations of Cystic Fibrosis (CF). Those with nonsense mutations are “rare” through and through, representing a rare group of mutations of a rare disease and an unfortunate part of the “rare” 10% of the CF community for whom there are no approved or late stage clinical trial therapies.

A disease is considered rare when it affects fewer than 200,000 people worldwide, and CF currently afflicts roughly 70,000 people worldwide, which makes it a more “common” rare disease. EE holds its rare disease badge close to the heart, banding together with the rare disease community and finding days like today integral in spreading urgency and energy to expedite research for all rare diseases in honor of those afflicted. Although individual diseases on their own can be labeled “rare,” there are over 7,000 rare diseases collectively affecting 350,000,000 people worldwide or roughly 1 in 10 Americans. Despite the prevalence of rare disease, there are FDA-approved treatments for less than 10% of rare diseases according to the National Organization for Rare Disorders (NORD)

Last year during Rare Disease Week 2018, EE was honored as a “foundation partner” at Icagen’s inaugural Rare Disease Desert Symposium in Tucson, Arizona, a two-day event that brought together scientists and representatives from pharmaceutical and biotech companies to advance research and drug development for rare diseases. On day two, Emily kicked off the conference with a compelling message on how multi-stakeholder collaboration can accelerate scientific progress, especially through patient-led research foundations. Emily then headed down south, where she spoke at the 5th Annual Rare Disease Genomics Symposium at the University of Alabama at Birmingham about the critical role patients and families can play in ushering in new biomedical models of the future.

This year, Emily is kicking off the day at at PRA Health Sciences’ Rare Disease Day event, where she will shine a light on the power that patient advocates and organizations have in the clinical development process as well as why awareness is so important in this space. Thank you to PRA for providing a platform to spread awareness on how the EE community continuously brings us closer to a brighter, healthier future for 100% of the CF population—even the rarest of the rare.

At Emily’s Entourage, we firmly believe that no disease or mutation is too rare to matter. This Rare Disease Day, dare to be rare, lean into your uniqueness, and join EE in showing your commitment to rare disease, reminding this small but fierce community that though they may be rare, they are strong, they are powerful, and most of all, they will not be left behind.

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