For Rare Disease Week, Emily will be taking the message of Emily’s Entourage to Vertex Pharmaceuticals in Boston, Massachusetts. She will use her story as a patient with a rare mutation of a rare disease to spur research and a strong commitment to expeditiously developing drugs for everyone with CF, including those with rare mutations.
In the United States, a disease is considered rare when it affects fewer than 200,000 people at one time—Cystic Fibrosis (CF) affects 70,000 people worldwide and 30,000 in the United States. With two copies of the same rare mutation of CF, Emily is a rarity among the rare.
With her talk, Emily hopes to expedite and energize Vertex’s effort to find new breakthroughs for the CF community. It’s an effort at which Vertex finds itself at the forefront.
In the past few years, Vertex has developed the first therapeutics to treat the underlying cause of CF rather than allay symptoms as all previous treatments have done. In 2012, they released Kalydeco for 4% of the CF population with one particular genetic mutation. Named the Forbes’ first annual Breakthrough Drug, Kalydeco was a game-changer that took people off transplant lists, allowed them to run marathons, start families and dream of a future not dictated by CF. It was followed by the release of Orkambi, a new combination therapy this past summer, which addresses the most common CF mutation.
Together, these drugs stand to benefit approximately one third of the CF population in the US. Unfortunately, they do not benefit people with many rare forms of CF, including those with nonsense CF mutations like Emily.
In her talk at Vertex, Emily will highlight her personal journey and the ground-breaking efforts of Emily’s Entourage to fast track research for new treatments and develop a cure for rare nonsense mutations of CF. Her talk will be delivered to a live audience of hundreds of Vertex team members and livestreamed to thousands more around the world.