Less than two months ago, on October 21, the FDA approved a revolutionary new drug for patients with cystic fibrosis, or CF, a fatal genetic disease that affects the lungs and digestive system.
“They’re truly game-changing. They’re getting people off of transplant lists, giving them second leases on life, and are unprecedented in their efficacy,” explains CF patient Emily Kramer-Golinkoff, 34, a Merion native and Penn grad.
And yet for Kramer-Golinkoff, these breakthroughs mean nothing. That’s because Kramer-Golinkoff, like 10 percent of the CF population, has what’s called a nonsense mutation. And while the scientific community spends decades researching and refining treatment options for diseases, those with nonsense mutations simply don’t have the luxury of time.
“It’s very clear to me that time is going to be the difference between life and death for so many people.”
Kramer-Golinkoff, for one, has really advanced-stage disease, with about 31 percent lung function. On good days, she spends about four hours a day administering treatments; right now, having recently been discharged from the hospital, she’s spending nine hours a day on treatment.
“While I have a lot of faith in science, there’s a whole group of people like me that just don’t have time to wait for the traditional drug development timeline to play out,” Kramer-Golinkoff says. “It’s very clear to me that time is going to be the difference between life and death for so many people.”
But while nonsense mutations affect just 10 percent of the CF population, they’re the cause of about 12 percent of all genetic disease, like certain types of muscular dystrophy, blood disorders, and cancers, all of which affect about 30 million people worldwide.
That’s why in 2011, she co-founded Emily’s Entourage, a nonprofit that focuses on seeding research and drug-development specifically for nonsense mutation CF.
“This is very personal, but it’s much bigger than me, and much bigger than the CF community,” Kramer-Golinkoff says.
Many nonprofits seek to raise money for meaningful causes, but Emily’s Entourage is unique in its entrepreneurial and direct approach: Since 2011, among other feats, it has awarded $4 million worth of grants to 17 researchers; organized symposia to convene researchers from around the world; created a registry of nearly 400 patients with nonsense mutations; and spun out its own gene therapy company, Spirovant Sciences (formerly Talee Bio), which in November was acquired by Sumitomo Dainippon Pharma, in partnership with Roivant Sciences, as part of a $3 billion deal. The deal comes with the commitment to developing two gene therapy programs that Emily’s Entourage first identified.
“It’s a huge deal, because those two gene therapy programs are not only mutation agnostic, meaning they would work for all mutations of CF, but they’re also potentially curative,” Kramer-Golinkoff explains. No other CF treatment is a cure; rather, they are all used for control, management.
“People are powerful. And collectively we’re unstoppable. And sometimes you possess the very thing that the world needs to spur revolutionary change.”
Among other accolades, in 2015 Emily’s Entourage was honored by President Obama, and this year the group was singled out by the Chan Zuckerberg Initiative as one of just seven patient-led research organizations.
“We started Emily’s Entourage as an act of desperation to disrupt the field and change the way that drug development happens, to infuse an urgency into the field,” Kramer-Golinkoff says. And as she fights for her health, she has learned and continues to spread a staggering message of hope:
“People are powerful. And collectively we’re unstoppable. And sometimes you possess the very thing that the world needs to spur revolutionary change. And so I think what has been so remarkable to me is that when you see something wrong in the world, any kind of injustice, that you have the power to change it. It starts with one person and ripples and becomes a community, and that’s how change happens. Knowing that you possess that power is an incredible thing to behold. I want to tell people that their voices are powerful and to use them wisely. Because that’s really how change happens.”
This Saturday, you can be a part of that change by attending the eighth annual Evening with Emily’s Entourage Gala at Moulin at Sherman Mills in East Falls. If you can’t make the event, you can bid on auction items online, or make a donation here.
“CF is a brutal disease, and no amount of discipline and hard work and education or ingenuity or love stops its progression,” Kramer-Golinkoff says, when asked about her health. “And so we feel that urgency every day. Most of my day is focused on trying to preserve every ounce of health that I have, but it’s an upward battle.” But growing her network—that supportive and determined entourage—is her mission and her purpose, for it’s that network that, she says, has true power, and holds the potential for transformative change.
December 7, 7pm, Moulin at Sherman Mills in East Falls, 3502 Scotts Ln; tickets start at $130.Photos courtesy JPG Photography