Emily Kramer-Golinkoff has put herself into the future of cystic fibrosis.
So much so that she’s donated millions of her own cells to spur research to find a cure for a rare form of cystic fibrosis.
It came as a shock when Kramer-Golinkoff was diagnosed with cystic fibrosis (CF) at just 6 weeks old.
“My parents were like most out there, unknowing carriers, and I was their first kid. It never occurred to them that your baby could be born [with it],” she added.
Cystic fibrosis is a progressive genetic lung disease that is fatal. It can also affect other organs and cause gastrointestinal problems or cystic fibrosis-related liver disease, diabetes or arthritis, the latter two of which Kramer-Golinkoff experiences.
“It really is the disease that keeps giving,” she joked.
But at 31 — the life expectancy of the disease is 37 — she’s not giving up any time soon.
While there have been great strides in the past few years to treating cystic fibrosis, Kramer-Golinkoff from Bala Cynwyd has a rare form of the disease, the Ashkenazi mutation, which hasn’t seen the same progress.
“About five years ago, as some of these big breakthroughs were coming down the pipe and I was getting sicker and sicker, I started to dig into the research,” she remembered. “What I found was really disheartening. There was very little work being done on this Ashkenazi mutation. I was trying so hard to find hope that I could cling on to, and I couldn’t find any. I had this terrible wake-up moment that at the current rate there wouldn’t be a breakthrough in time for me, most likely. So it was from that place of desperation really that Emily’s Entourage was born.”
Kramer-Golinkoff started Emily’s Entourage to try to find a cure for the rare condition that she and many others suffer from.
In four and a half years, she’s raised $2 million.
“The money that we’re raising is just a means to an end,” she continued. “What we really want to do is [find] fast breakthroughs. We sort of realized in this process that the way the biomedical system, research and drug development in medicine happens now is extremely methodical and slow. For people like me, whose lives depend on progress, that’s really frustrating.”
The traditional medical system usually means waiting until scientists share their research in a published journal.
For someone like Kramer-Golinkoff, who has about 35 percent lung function, “I don’t have time for that.”
Through the funds and creating cooperation among scientists, the industry, patients and foundations, she hopes to disrupt that process.
“We’re bringing people together in intimate rooms and trying to get them to work together and share data in real time and pool all of their ideas and projects so that we can really strategically go after this as a team and trying to save lives — and maybe get some published papers along the way,” she noted.
Kramer-Golinkoff’s donated cells have been a major part of the process. What was preventing some sort of cure for the Ashkenazi mutation was a lack of cell models because it is so rare to begin with.
“Although this mutation is relatively rare among the CF population, it’s caused by a cellular defect that is the same cause of about one-third of all genetic diseases. It’s called a nonsense mutation, and so we’re kind of thinking of the Ashkenazi mutation of CF as a prototype to potentially crack the code for tons and tons of different patients suffering from a wide variety of different diseases,” she said.
Because cystic fibrosis is a progressive disease, Kramer-Golinkoff started out as a relatively healthy kid. She still did her treatments every day and had to go to the hospital when she got sick, but “we became masters at integrating my treatments into everyday life. I would do my IV treatments in high school classes.”
Her friends and family were always supportive; they never made her feel ashamed of it.
“When my mom would scream outside and tell me it’s time to do my treatments, my friends would race inside because it was the highlight of their day,” she recalled. “It was almost just factual. I have brown hair. I have to brush my teeth every night. I have CF. I have to do my treatments every day. It was just a fact of life.”
She still takes her breathing and airway clearance treatments every day for an average three to four hours — if she’s healthy — in addition to about 30 pills and four insulin injections.
“And that’s at best,” she laughed. When she’s sick, she can be in the hospital for weeks on antibiotics.
“Truthfully, the hardest part about living [with CF] at this point is that I’m 31 and I have big eyes and all these things I want to do in the world and, in so many ways, I’m sort of held back by this body that’s a lot frailer than my mind or spirit,” she admitted. “I have to be so deliberate with how I use my energy and it feels in many ways like I have to hold back, and that’s a really frustrating thing to do when it should be the peak of your life.
“It’s a constant burden being painfully aware of the uncertainty of the future; knowing that all it takes is just one small cold,” she said in a calm, strong voice.
“I’m walking against the current trying to achieve stability, and if I knew that I could stay here forever, that would be the greatest gift in the world, but I know that’s not the case. I have lots of friends with CF — I know what the course before me is, and it’s not fun.”
Kramer-Golinkoff wants to travel the world and one day write her own book sharing her story, but for now, her goals are focused on solving cystic fibrosis and her own health.
Emily’s Entourage has motivated her, and she travels across the country to attend speaking engagements and symposiums for her mission.
But it’s not just for her.
“There’s a lot of people in the world who deserve hope for a future. We need to design the system that overcomes a lot of the operational barriers so the only thing that stands between us and the cure is science.”
For her work, Emily’s Entourage has been honored by the White House, named the Champions of Change for Precision Medicine.
Her organization will be hosting the fifth annual Evening with Emily’s Entourage gala on Dec. 3 at Moulin at Sherman Mills to continue raising awareness.
“It’s really important because it’s not just about a rare mutation of a rare disease. It’s a lot bigger than that. There’s a lot of other diseases like Duchenne muscular dystrophy or even many forms of cancer that are caused by this same nonsense mutation. It’s much bigger than just about me or about CF even.
“Particularly for the Jewish community, between one in 25 and one in 27 Ashkenazi Jews is a carrier of CF, which is as much or more as Tay-Sachs.
“A big part of the mission is trying to bring awareness and let the Jewish community know that this is our disease. Many of the folks with CF are benefiting from huge advances but the Ashkenazi mutation is not, and it’s up to us to change that.”
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