“Take a deep breath. No, really, do it. In fact, I’m a little nervous,” the speaker said.
“I’ll take a deep breath, too! That deep, refreshing breath is a privilege and it’s one that my big sister never gets, because my big sister, Emily, has a progressive genetic disease called cystic fibrosis or CF for short. CF affects the lungs and digestive system. It causes thick, sticky mucus to build up in the lungs, leading to life-threatening lung infections.”
So began the speech that Emily Kramer-Golinkoff’s sister, Julia, gave at the Dec. 1 event at the Center for Material Culture in Germantown, to raise awareness and funds for Emily’s Entourage, a non-profit organization dedicated to helping find a cure for a disease that affects 30,000 people in the United States alone.
A significant number of them are Jewish; indeed, research shows that the Jewish population is as vulnerable to cystic fibrosis as to Tay-Sachs.
Five members of the Kramer family took to the stage to appeal to those present to reach out and support Emily and many others with cystic fibrosis.
Following Julia were her brother, Coby; Emily herself; and their parents, Liza and Michael, each sharing inspiring stories and spelling out the need for action to save lives now hanging in the balance.
While much progress has been made — at one time, it was rare for those with the disease to survive childhood — the life expectancy is still relatively short, in the mid to late 30s. And these individuals must undergo a time-consuming regimen of treatment just to stay reasonably healthy.
Emily, for example, told those gathered she undergoes daily “three-to-four hours of airway clearance and breathing treatments.” In addition, “I take 30 pills and do four shots of insulin each day — and that’s when I’m healthy. There are no breaks. No days off. No vacations.” (CF also raises the risk of diabetes.)
Lung function is sharply reduced, and resistance to the antibiotics used to treat the recurring infections builds up, so there is a constant need to tweak medications. Emily has had to undergo many hospital stays when infections arise, hoping the medication that worked last time will work this time — but facing the ever-present possibility that it will not.
“A couple of years ago,” Emily reports, “I became resistant to a predominant medication I was using. The doctor and I had to try to find another medication, and that was a wake-up call. We had a limited number of options, and we were crossing off one of the major ones.”
You might think that the time demands of simply staying healthy under circumstances like these would eclipse having anything resembling a normal life. From the day of Emily’s diagnosis, her parents were determined to give her as normal a life as possible and found a way to give her the birthday parties, sleep-overs and swimming lessons that other children took for granted.
And Emily adapted, her emotional strength compensating for her physical frailty. A Penn honors graduate, she is now studying for a master’s in bioethics while working in health care marketing.
A testament to her dynamic personality, her network of friends stretches across the United States, some coming from as far as California and Texas to attend the fundraising event.
She has joined forces with her family to start Emily’s Entourage, which has raised over $200,000 during its first year.
She has had more than her share of setbacks and challenges. Emily notes a “constant low point”: that “friends in the CF community can’t be together due to fear of infection.” And given the fragility of these friends, “I witness a lot of loss. These amazing, vibrant, promising people fight so hard,” she says, and then “you witness a disease you live with taking their lives.”
But Emily’s inner resilience grows stronger. “Living with the uncertainty of CF, you never know what each phase will bring,” she comments, and this “gives you a deliberate sense of the present.”
In her speech, her mother described an incident that typifies this “deliberate sense of the present.” As Liza reported, “It was April 2011 and Emily was a bridesmaid in her best friend’s wedding in New Orleans. About two weeks before the wedding, Emily got very sick with a very severe lung infection.”
Although her daughter was determined to make it to the wedding, she could not recover in time for that much anticipated walk down the aisle.
However, instead of succumbing to “self-sympathy,” she entered fully into the “mock wedding” that her friends and family staged at home, celebrating with cake and listening on the phone to the ceremony in New Orleans.
Several months later, however, she had another chance to be a bridesmaid, when her friend, Jessica Lazarus, married in November 2011, although on this occasion as well, there was concern that she might have to defer, because “she was very sick leading up to the wedding.”
Fortunately, this time, she didn’t have to miss the big event. “She was present,” said Jessica, “for each important moment, taking just a short but necessary break from dancing to go up to a hotel room and do her medical treatments — while wearing her bridesmaid dress with hair and makeup done.”
All the same, she is in a race against time, as are many others with CF. There has been a promising development within the past year, most notably the January 2012 FDA approval of Kalydeco, a new drug manufactured by Vertex Pharmaceutical, which is designed to address the underlying cause of CF — described on the Cystic Fibrosis Foundation website as “a faulty gene and its protein product, CFTR.”
The drawback? Among the approximately 1,500 mutations of cystic fibrosis, the drug treats only one — which only 4 percent of those with CF carry—and it is not the one that Emily and other Ashkenazi Jews are prey to. The good news is that this drug shows that significant progress in treatment is within reach. Furthermore, say Emily’s parents, “The Cystic Fibrosis Foundation has agreed to direct our funds to support research for Emily’s bacteria and CF mutation, the Ashkenazi Jewish mutation.”
Besides this agreement, additional support has been mounting. “An anonymous donor,” says a recent fundraising email from the Kramer family, “is matching all funds we raise before Dec. 26.” l
For more information, visit: www.emilysentourage.org .