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30-Year-Old Woman Races Time to Find Cure for Rare Form of Cystic Fibrosis: It's 'Just Outside of Our Grasp'

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For most, turning 17 proves an awakening of sorts. The occasion marks the final year of the carefree trappings of adolescence, placing one squarely on the precipice of adulthood and a world of exhilarating changes. But for Bala Cynwyd, Pennsylvania’s Emily Kramer-Golinkoff, diagnosed with a rare form of cystic fibrosis at six weeks old, the day marked an ominous turning point.

“At the time, life expectancy for CF patients was around 34 or 35,” she tells PEOPLE. “It dawned on me that I was at the half-point and I just thought, ‘I am not ready to be at my midlife crisis.’ ”

By all accounts, Kramer-Golinkoff, now 30, is nearing the end of her life expectancy. But that could change with groundbreaking research that she’s helping to facilitate via funding through her nonprofit organization, Emily’s Entourage, and donation of tens of thousands of her own body’s cells shipped to laboratories worldwide.

Thus far, “there has been very little in the drug development pipeline or research for people with my mutation,” she says. But the recent breakthroughs for other CF mutations “showed what’s possible and lit a fire in my belly to make that dream become a reality for everyone with CF.”

Emily Kramer-Golinkoff takes a break for medical treatment while serving as a bridesmaid at a friend’s wedding in June 2014.
Courtesy Emily Kramer-Golinkoff

“Petrified”
Michael Golinkoff and Liza Kramer knew early on that something wasn’t quite right with their cherub-faced baby girl with jet-black hair. Six weeks after her birth, Kramer-Golinkoff developed a severe cough and the roots of her dark hair grew blonde, a key indication of malnourishment. Initially, doctors suspected pneumonia but a sweat test found high levels of salt in the infant’s perspiration – a primary mark of cystic fibrosis.

“We were petrified,” Golinkoff recalls. “She was our first born and Liza had done everything during her pregnancy to optimize the baby’s health. I remember at one point asking, ‘Will she be able to play soccer?’ I don’t even play soccer. I think I was just trying to ask whether she would have a normal childhood.”

That fear has since proven unfounded, as Kramer-Golinkoff grew into a successful, defiantly positive and intensely motivated young woman who earned a master’s degree in bioethics at the University of Pennsylvania in 2013 and whose efforts just may help clear the way for revolutionary CF treatment.

Cystic fibrosis is a progressive and potentially fatal genetic disease that affects the lungs and digestive system. It develops when an inherited CF gene directs the body’s epithelial cells to produce a defective form of protein in the linings of the lungs, digestive tract and sweat glands. This protein disrupts the body’s natural balance of salt and water needed to maintain a normal, thin coating of fluid and mucus inside the lungs and in the passageways of other organs. The mucus, meant to trap then clear out germs, instead thickens and becomes lodged, clogging airways and triggering infections. In infants, it also prohibits full digestion of food, even breastmilk.

For Kramer-Golinkoff, it means lung capacity at just 35 percent, managed via three to six hours of airway clearance and breathing treatments daily. This involves wearing an inflatable vest that literally shakes her body to dislodge mucus from her lungs. Hospital stays are frequent and daily antibiotics are a must to aggressively fight nearly constant infections.

Emily Kramer-Golinkoff snaps a selfie with a respiratory therapist during a 2015 treatment at Saint Joseph Hospital in Denver.
Courtesy Emily Kramer-Golinkoff

While most of the 1,900 mutations of cystic fibrosis are common, a few are incredibly rare, affecting about six percent of the total CF population. Among them is the “nonsense mutation,” which affects less than 10 percent of the 70,000 diagnosed CF cases worldwide, including Kramer-Golinkoff’s.

Over the past few years, development of two groundbreaking new drugs approved by the FDA, have given hope to scores of CF patients. Kalydeco, approved in 2012, is the first to effectively address the underlying defect in CF rather than just the symptoms, but only works in about four percent of the total CF population with a particular mutation. In July, the FDA announced approval of Orkambi, expected to help more than half of CF patients. Thus far, though, it’s been a bittersweet celebration for Kramer-Golinkoff, as neither of these drugs benefits those with the nonsense mutation.

Solutions in sight
In spring of 2011, Kramer-Golinkoff and friends participated in the Cystic Fibrosis Foundation‘s annual CF Climb fundraiser, which involves teams running up and down stairs for sponsor donations. Dubbed “Emily’s Entourage,” the team easily raised $8,000. Seeing that figure sparked an idea.

“We realized that if we could raise that much without really trying, imagine what we could do if we put our heart and soul behind it,” Kramer-Golinkoff says.

To that end, she and a team of devoted family, friends and medical experts transformed Emily’s Entourage from a team of casual supporters into a nonprofit organization that is making waves in CF research.

Emily Kramer-Golinkoff visits the ancient Roman Colosseum during a June 2015 dream vacation to Italy.
Courtesy Emily Kramer-Golinkoff

In just a few short years, this tiny, all-volunteer organization has raised an impressive $1.5 million, hosted two major symposiums with top leaders in CF research and treatment, and landed Kramer-Golinkoff a speaking engagement at the White House as a Champion of Change in Precision Medicine. Emily’s Entourage currently is helping to fund and facilitate research being conducted at the University of California, San Francisco; the University of Alabama at Birmingham; and Quebec, Canada’s McGill University.

Kevin Foskett, PhD, Chair of the University of Pennsylvania, Perelman School of Medicine’s Department of Physiology and a member of Emily’s Entourage’s Scientific Advisory Board, credits Kramer-Golinkoff’s donation of her cells as a major factor in accelerating a cure.

“Those cells can be amplified into millions and millions of additional cells, still retaining all of the original properties, and can be used by researchers, drug companies and in gene therapy,” he tells PEOPLE. “One way to fix Emily’s problem might be to simply replace her mutated gene with one that’s not mutated.

Emily Kramer-Golinkoff.
Cheyenne Gil

Another source of hope is that at least four of the big pharmaceutical companies are developing drugs for cystic fibrosis. Sanofi, Novartis, GlaxoSmithKline and Vertex Pharmaceuticals all are making second-generation drugs right now and there is evidence that the drugs that are already on the market may actually work in Emily if only they could work a little better.”

Perhaps the most critical of Emily’s Entourage’s efforts has been its success in putting a beautiful face on an ugly issue. Case in point: The test tubes that fill the testing laboratories at USCF are all marked with random alphanumerical codes – except those marked with Emily’s name.

“That’s incredibly motivating because it shows that they understand their research is about a person, a family and a community. It’s not just a day job,” says Kramer-Golinkoff, who balances her own day job at the Penn Social Media & Health Innovation Lab with some 20 speaking engagements nationwide each year. “The really unique thing about CF is that the end of the race is in sight. A cure is just outside of our grasp. In the very immediate future, we could see people with this disease living into old age.”

Hopefully, a cure comes in time for Kramer-Golinkoff to experience many more birthdays.

“We don’t take birthdays for granted,” her mother says haltingly. “We celebrate every second of the day.”