For Emily Kramer-Golinkoff, starting her own nonprofit was more than an act of humanity. It was her only hope.
Without a lung capacity of just 35 percent, hours of daily treatment, and an uncertain future hanging over her head, Kramer-Golinkoff would be what she looks like on the surface: an ordinary 33-year-old woman. Behind her big eyes and bubbly personality, it is almost impossible to see that Kramer-Golinkoff is battling a rare form of cystic fibrosis, the Ashkenazi mutation of the genetic disease, and she doesn’t have much time.
“I never hid the fact that I had cystic fibrosis growing up,” said Kramer-Golinkoff, who was diagnosed with the hereditary disorder before she turned 1. “But it was also never central to my identity.”
The disease is progressive. A defective gene triggers excessive mucus production in the lungs and other organs and makes the patient vulnerable to infection. The average life expectancy for someone with CF is between 35 and 37 years, just a few years older than Kramer-Golinkoff.
In 2011, Kramer-Golinkoff’s disease was progressing and she was running out of conventional treatment options. Concurrently, major drug discovery breakthroughs were helping patients with the most common mutations of CF. But for the outlying 5 to 10 percent of people with the rarer, so-called nonsense mutations of CF—such as the Ashkenazi mutation—those developments were practically meaningless. A nonsense mutation disrupts protein production in a different way than a classic CF mutation, which makes finding a cure all the more challenging.
“If we wanted breakthroughs in my lifetime, we were going to have to dive in head first and take matters into our own hands,” said Kramer-Golinkoff, who lives in Ardmore, Pennsylvania. So with the chutzpah of a woman with nothing to lose, she started Emily’s Entourage, a nonprofit devoted to spearheading research exclusively for nonsense mutations of CF.
Emily’s Entourage raised $40,000 in the first week. Since 2011, the organization has raised $3.7 million and ballooned into a proper 501(c)(3) nonprofit organization with a scientific advisory board of medical experts. Perhaps most noteworthy, Emily’s Entourage has awarded about $3.4 million in grants to various institutions for the furtherance of research for nonsense mutations in CF.
Kramer-Golinkoff is not alone in her battle. The Jewish Genetic Disease Consortium, which works to provide awareness of diseases in the Jewish community, estimates that 1 in 24 Ashkenazi Jews carries the genetic mutation for CF, though all Jewish populations are susceptible to the disease in varying degrees.
“CF rates differ between different ethnic Jewish origins,” explained Dr. Eitan Kerem, one half of the research team that discovered the aforementioned statistic and the head of pediatrics at Hadassah Medical Center in Israel. “In Ashkenazi [descent], it is most common.” The reason for this, Kerem explained, is unknown.
Despite the high percentage of susceptibility for certain ethnic groups, medical breakthroughs for nonsense mutations continue to fall flat.
“Drug development is directed toward the common mutations that will enable revenue to the company,” said Kerem. He added that the specific problem that the Ashkenazi mutation creates is more difficult to correct than its mainstream counterparts.
According to the Cystic Fibrosis Foundation, there are more than 1,700 known mutations of CF. In short, these mutations involve the premature halting of protein production in the CFTR gene, a protein composed of 1,480 amino acids. The most common CF mutation involves the elimination of one of these amino acids, number 508. This mutation can be fixed with drugs currently on the market.
Dr. Kevin Foskett, the chair of the department of physiology in the Perelman School of Medicine at the University of Pennsylvania and the chair of the scientific advisory board for Emily’s Entourage, noted that the drugs currently on the market for CF have proven clinical efficacy for nearly 90 percent of people suffering from the disease by improving lung function. Although these drugs are not a definitive cure, they treat symptoms by targeting the mutated protein without actually fixing the defect.
“A nonsense mutation, on the other hand, terminates the protein before all 1,480 amino acids have been added to the protein,” said Foskett. “And there are no drugs that can fix such a mutation.”
Foskett, who has been involved in CF-related research since before the gene for the disease was discovered in 1989, is looking to help the 10 percent who are not helped by the drugs now available. With his guidance and expertise, Emily’s Entourage is funding groundbreaking drug discovery efforts and research initiatives for nonsense mutations of CF. “Here, if these drugs work, they could be mutation agnostic,” Foskett said about some of the specific initiatives Emily’s Entourage is backing. “That is, it could work for all patients with CF regardless of their specific mutation.”
In general, developments have been slow on the medical front. But Foskett believes the acceleration of awareness for nonsense CF mutations is one of the organization’s biggest accomplishments to date.
Speaking about CF has been uncommon for carriers and patients for a while, especially in the Jewish community. The near obsession with lineage and family continuity—and squeaky-clean shidduch resumes for matchmaking—often results in heavy silence when it comes to discussion about the disease.
“There’s a lot of secrecy and there’s a lot of hiding,” said Julia Grundwerg, an American-Israeli whose 16-year-old daughter, Sarita, has a nonsense mutation of CF. “And it’s adding on to the burden that you have to deal with.”
To Grundwerg, the stigma surrounding the disease is most prevalent in the ultra-Orthodox world, though it exists in other enclaves as well. “It’s looked at in a negative sense and it’s a shame,” Grundwerg said. “Because there is so much good that can come from sharing.”
“People say it’s an isolated illness,” echoed Rabbi Chaim A. Wolkenfeld, the founder of Child Life Society, which provides support and alleviation to patients and families dealing with CF. To Wolkenfeld, community support is as essential for healing as medical breakthroughs; the stigmatization is detrimental, concern for matchmaking notwithstanding.
“We found that it’s so important to get these families together so that they could say something to each other,” Wolkenfeld said. The Child Life Society regularly hosts support groups and phone conferences for Jewish families affiliated with CF. In some cases, families who had lived on the same block for years learned through Child Life Society that they shared a connection to a disease that had been buried under stigma and taboo for years.
“To be alone is the worst thing,” added Wolkenfeld.
Organizations like HASC and Yachad, which offer support to Jews with special needs and developmental disabilities, represent a change in the way the Jewish community relates to disease—that is, a marked improvement and a shift toward acceptance. But for genetic disorders on the whole, the default response is still unease.
“When it comes to dating and marriage, I have seen that families dealing with genetic conditions are stigmatized,” said Estie Rose, a genetic counselor and outreach coordinator for JScreen, which tests and counsels Jewish couples for genetic diseases. “Siblings of individuals with genetic diseases have a harder time than others, and those with family histories are unfairly judged when being considered for a shidduch.”
CF is one of the most common conditions that JScreen advises on. And the high likelihood of carrying the Ashkenazi mutation of CF puts many Jewish couples in a susceptible position when it comes to planning a family. When counseling a “carrier couple” for CF, Rose discusses the treatment and reproductive options available to each couple and makes sure each patient is well informed about the risks associated with conception.
“I truly believe that knowledge is power,” said Rose. “Because if we have the prior awareness of our carrier states, there’s something we can do to prevent devastating disease in our children.”
But even with the advances in genetic screening, the work of Child Life Society, and Emily’s Entourage, breakthroughs for nonsense mutations in CF have not yet caught up with the damage; there is still no known cure.
Sill, at the very least, Emily’s Entourage is fostering an expectation for a cure that is more than a pipedream or wish upon a star.
“Emily’s Entourage has given me the gift of hope,” said Stacy Carmona, a CF patient with two nonsense mutations who lives in Laguna Hills, California. “Knowing that Emily and her team are pushing the scientific community to get to a nonsense therapy faster inspires me that it could happen in my lifetime.”
Kramer-Golinkoff’s latest move was to partner with Elizabeth Phillipson-Weiner, a composer and songwriter who suffers from Crohn’s disease. The new campaign centers on a music video with Broadway stars that encourages people to donate to help fund research for nonsense mutations of CF.
“I wish I could say we had these grand visions,” said Kramer-Golinkoff of the early days of Emily’s Entourage. “But we didn’t. We just knew that something had to be done, that no one else was doing it, and that we didn’t have time.”
For now, Kramer-Golinkoff and her team are running a marathon with no clear finish line in sight. What began as a last-ditch effort has become a symbol of empowerment, hope, and perseverance against nearly impossible odds.
And Kramer-Golinkoff isn’t backing down just yet. “What I hope that people realize is how powerful they are,” she remarked. “And that there are huge changes that have to be made in the world and that it’s up to each one of us to start and lead that revolution.”
Like this article? Sign up for our Daily Digest to get Tablet Magazine’s new content in your inbox each morning.
Shoshy Ciment is a journalist in New York City and will be graduating from Yeshiva University in the spring of 2019.