Emily's Entourage seeks cure for rare form of cystic fibrosis

Emily Kramer-Golinkoff gets some work done on her laptop while she receives treatments for her lungs. Emily, who was born with cystic fibrosis, has done many remarkable things in her life - including graduating from Penn, working at the university and studying for a masters all while managing her increasingly debilitating disease - but starting Emily's Entourage with her brother and sister may be the most amazing. In two short years, they built and nurtured a digital community with thousands of fans and followers and which has raised hundreds of thousands dollars.She is shown at her parents' home on Jan. 29th, 2014. ( CHARLES FOX / Staff Photographer )
Emily Kramer-Golinkoff gets some work done on her laptop while she receives treatments for her lungs. Emily, who was born with cystic fibrosis, has done many remarkable things in her life - including graduating from Penn, working at the university and studying for a masters all while managing her increasingly debilitating disease - but starting Emily's Entourage with her brother and sister may be the most amazing. In two short years, they built and nurtured a digital community with thousands of fans and followers and which has raised hundreds of thousands dollars.She is shown at her parents' home on Jan. 29th, 2014. ( CHARLES FOX / Staff Photographer )
Posted: February 28, 2014

Emily Kramer-Golinkoff, a 29-year-old with big eyes and long straight hair, is like a lot of other single young women living in Center City: She tracks her exercise with a Fitbit, meets friends for dinner, and works as a new-media researcher.

But unlike other twentysomethings, she devotes much of her day to an all-consuming mission: Extending her life.

Kramer-Golinkoff's outward vitality masks the rapidly advancing state of a deadly disease, cystic fibrosis. With her lungs operating at 37 percent capacity, she undergoes an arduous three- to four-hour routine of breathing rituals and medications simply to face every day.

With life expectancy for her illness in the 30s, Kramer-Golinkoff is throwing much of her waning energy into a philanthropy, Emily's Entourage, with a single mission - to find a cure that will save her life, as well as those of others with her rare form of the disease.

In less than three years, the foundation has raised $630,000 - through an annual fund-raiser and an aggressive social media campaign that involves sharing photos and videos online, generating enthusiasm on college campuses and selling Emily's Entourage T-shirts that have been worn or photographed on travelers in every continent except Antarctica.

"Obviously we're passionate about it, and it's literally a life-or-death situation," said Kramer-Golinkoff, who grew up in Bala Cynwyd and graduated from Lower Merion High School. "People feel the passion and urgency, and want to get on board."

Emily's Entourage also raises the profile of a fast-growing trend at the intersection of medicine and philanthropy, as more families like Kramer-Golinkoff's are launching their own foundations and working directly with researchers. Experts say it's a way to cut through systems and speed up cures.

Sense of urgency

About 30,000 Americans live with cystic fibrosis, which causes a sticky mucus buildup in the lungs and other organs, leading to infections, digestive problems, and death in young adulthood.

Two years ago, scientists claimed remarkable success in developing a drug called Kalydeco that targeted about 4 percent of the affected population. The drug improved lung function and is expected to extend lives.

However, Kramer-Golinkoff has a different genetic cell mutation, one that is found in about 6 percent of patients (with a high concentration among Ashkenazi Jews), and an even more unusual combination of two defects that affects less than 1 percent, said her physician, Denis Hadjiliadis, director of the Adult Cystic Fibrosis Program at the University of Pennsylvania.

"What Emily is trying to do is put this on the forefront," said Hadjiliadis. "She's not somebody that has years and years and years of time."

That sense of urgency has created an explosion in the last five years of family foundations working to personalize and accelerate research, said Cecilia Arradaza, managing director for community and policy at the nonprofit FasterCures.Org., which advises small foundations. She said they have developed their own cell lines for scientists to study, created patient registries, or worked directly with the world's top researchers.

"It's an unmet need. They're doing it because no one else is doing it and somebody has to," said Arradaza. "The urgency is so palpable."

Success comes in small steps. While they may not get a cure, "they're going to get answers," she said.

When Emily was a baby, her parents, Liza Kramer and Michael Golinkoff, now an insurance executive, briefly launched their own separate effort, called the Cystic Fibrosis Research Fund, out of concern that established groups would not focus on her rare mutation.

Then, they had three other children. One - Emily's now-19-year-old sister, Annie - was born with severe disabilities that required time and care.

Kramer-Golinkoff's health was relatively manageable until shortly after she graduated from the University of Pennsylvania, when she developed cystic fibrosis-related diabetes, which led to a sharp and sudden drop in her lung capacity.

"That was the next phase," Kramer-Golinkoff said. "At that point, I was teetering on the verge of where a lung transplant was my only option."

But transplants come with high risk, so she and her family went back into philanthropy, this time with a 21st century viral media focus.

In February 2011, a friend suggested they form a stair-climbing team to raise funds for the disease as they had done as children, and came up with the name Emily's Entourage. They raised $8,000 with "minimal effort," said Kramer-Golinkoff.

They then decided to create a video with her brother Coby, then a student at Tulane University, editing even though he had no experience.

"I put in hundreds and hundreds of hours - spent days on end putting together this video at the Apple Store," said Coby Kramer-Golinkoff, who is now with Teach for America.

"My family had bets about how much it would raise," Emily Kramer-Golinkoff recalled. "I was ever the cautious one."

But Kramer-Golinkoff, who just earned her master's degree in bioethics and works at Penn's Social Media Innovation Lab, put her skill in online networking to work. The video of her, her friends and family appealing for support raised $40,000 in its first week, in December 2011.

"Young people have really connected and run with it," her mother said. "It's really the most powerful message to us. . . . People want to help and do good."

In 2012, the family launched an annual fund-raiser at Material Culture, a furniture store in East Falls, that now includes a silent auction as well as the debut of a new video.

The fast-growing philanthropy now has a board of directors, 3,500 friends on Facebook, and 800 followers on Twitter. One of the biggest followings is at Tulane, where younger sister Julia, Annie's twin, is now an undergraduate - and where one of six students now owns an Emily's Entourage T-shirt.

Benefit others

Meanwhile, Kramer-Golinkoff has raised her profile as a patient advocate and speaker, delivering an address at a Stanford University medical conference and a Tedx talk in Lower Merion even as her health declines. A few years ago she became resistant to one of the antibiotics that keep her breathing.

Next week, the first of her cell lines will be shipped to one or two of the half-dozen university labs worldwide that have expressed interest in the project, she said.

The family emphasizes that any breakthrough would, it hopes, benefit many other patients with what scientists call "the nonsense mutation."

"We're not doing research for me - we're doing it for everyone that falls into the 'nonsense mutation' with CF, the 6 percent of us," said Kramer-Golinkoff.

So she keeps pushing forward - even as getting out of the house requires 90 minutes of inhaling medicines and wearing a vest to vibrate and loosen mucus in her lungs every morning, repeated in the afternoon and evening. She also takes about 30 pills and four insulin injections.

But she says that the regimen has become "like brushing your teeth" - what she needs to do to get out and go to work, advocate for Emily's Entourage, and live her life.

"I don't think long-term," she said. "I try to be present - that's a good lesson for life in general. A lot of things are unknown, but I think I live with that a little more than the average person."

More information can be found at www.emilysentourage.org.

Editor's Note: This story was updated to correct the name of Emily Kramer-Golinkoff's father. It is Michael Golinkoff, not William.


kboccella@phillynews.com

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