As an adult with cystic fibrosis, a genetic disease that claims the lives of about 40,000 Americans, Greater Philadelphia resident and Emily’s Entourage co-founder, Emily Kramer-Golinkoff, 40, faces unique challenges. Ever since her diagnosis at only six weeks old, she has courageously battled the realities of this devastating disease. Thick, sticky mucus has filled in her lungs and other organs, worsening her battle. Through patient advocacy and research, Kramer-Golinkoff is committed to the fight against cystic fibrosis. In her fight, a rare genetic mutation further complicates her battle, making her ineligible for 90% of existing medications.
Today, Kramer-Golinkoff lives with only 30% lung capacity. On top of that, she fights kidney problems, high blood pressure in her lungs and diabetes, needing daily insulin to stay healthy. Every day, she fights the truth that the answer is a lot of pills. In addition to having infections looming at every turn, she has to manage her energy levels, an infernal juggling act with her unique set of challenges.
The pandemic added a new dimension to her struggles, making her move home with her parents an experience of isolation. Through all of these struggles, Kramer-Golinkoff has not given up hope for new treatments — especially for gene therapies that are in the pipeline and in clinical trials right now. She expresses her feelings poignantly: “Just to have these therapies in trials provides so much hope.”
Kramer-Golinkoff’s situation underscores the hurdles all patients with rare mutations must navigate. Recent progress in the field of genetic medicine has proven life-saving for thousands of cystic fibrosis patients. Yet, people like her continue to find themselves on the wrong side of this progress.
You need to be hyper aware of decisions during the day about where to spend your limited spoons, she explains. “And that’s really difficult to do when you have big dreams and important work and life to live.”
In the landscape of medical research, physicians like Dr. Kiran Musunuru emphasize the need for a substantial patient population to attract pharmaceutical interest in developing treatments for rare mutations. “You need a sufficiently large number of patients in a major market in order for a company to be interested in going forward,” he states.
Kramer-Golinkoff’s eagerness for new therapies underscores her desire not only for personal relief but for her community of patients left behind. “We feel such pure joy for our friends who have been lifted from this sinking ship,” she shares. We’re so anxious, so hungry to get in the mix with those heroes. It’s really unfortunate to be on the minority of people who are missing out.
While these clinical trials for gene therapies are still in progress, they inspire hope for all involved with the cystic fibrosis community. For these patients, recent developments were a welcome lifeline, able to offer new hope when options are often limited. The urgency of their situation increases as researchers make exciting discoveries about novel therapies for the condition.
Kramer-Golinkoff is optimistic but realistic about what she faces. She recognizes the emotional burden placed upon patients who exist beyond the guidelines established for routine practice. “We’re incredibly excited about the promise of gene therapies. They can’t come soon enough,” she asserts.
As the medical community progresses toward understanding and addressing rare genetic mutations more effectively, individuals like Kramer-Golinkoff continue to advocate for inclusivity in treatment options. Like their stories, we need to be reminded that it’s absolutely critical to advance research that includes all patients. This is critically important for people who get left behind the most.
