Living With A Rare Genetic Mutation: Advanced Cystic Fibrosis

Emily Kramer-Golinkoff, 40, today struggles to take in enough oxygen with each breath. She is living with advances cystic fibrosis, which makes simple activities like walking or showering, exhausting for her. She is one of the 40,000 Americans who are affected and are living with the most common fatal genetic disease in the United States. As per the National Heart, Lung, and Blood Institute, cystic fibrosis is a genetic condition that changes a protein in the body. The faulty protein then affects the body's cells, tissues, and the glands that make mucus and sweat. Cystic fibrosis cause mucus to become thick and sticky. As a result, it builds up and causes blockages, damages, or infections. While most are born with this condition and continue to be on the medication throughout, for Kramer-Golinoff's rare genetic mutation cannot be managed by the same medication that help about 90% of cystic fibrosis patients. "For our friends who have been lifting from the sinking ship, we feel such pure joy. But we just feel so eager and desperate to join them. It is really hard to be in this minority of people left behind," Kramer-Golinoff told the Associated Press (AP).Rare Mutation And Its ChallengesThe gap between patients with common and rare mutations is a growing concern. Advances in genetic science have uncovered the precise causes behind many brutal diseases, offering treatments to some but not all. Patients with rare mutations often face fewer treatment options and a much grimmer outlook.Market forces contribute to the problem. Drug companies tend to focus on treatments that serve the largest groups of patients. “You need a sufficiently large number of patients in a major market in order for a company to be interested in going forward,” said Dr. Kiran Musunuru, a gene editing expert at the University of Pennsylvania. He described this reality as "mutational discrimination."Charities, including Emily’s Entourage—a nonprofit co-founded by Kramer-Golinkoff—are working to change this. Their fundraising efforts have helped jump-start gene therapy research that could benefit patients with any mutation. Although these treatments are likely years away, "just to have these therapies in trials provides so much hope," she told the AP.To Live With Cystic FibrosisKramer-Golinoff was diagnosed with this condition at just six weeks old. “As I’ve gotten older … my CF has gotten worse, despite all my best efforts to delay it,” she shared with the AP. Before her condition worsened, she earned a master’s degree in bioethics from the University of Pennsylvania, traveled, worked, and spent time with friends. But over time, she developed CF-related diabetes and other complications, including frequent infections. Since the pandemic began, she has lived in isolation with her parents in Greater Philadelphia. “CF is a real monster of a disease,” she said.Meanwhile, newer therapies known as CFTR modulators have dramatically improved life for many cystic fibrosis patients. However, these drugs don't work for those with rare or unknown mutations, often leaving people from underrepresented groups, including Black patients, at a disadvantage.A Ray Of HopeOne promising solution is developing "mutation agnostic" gene therapies that would work for all patients, regardless of the specific genetic mutation. “There’s a huge push to develop these therapies," said Dr. Garry Cutting of the Johns Hopkins Cystic Fibrosis Center, as reported by AP.The Cystic Fibrosis Foundation reports that 14 experimental gene therapies are currently in development. Many aim to deliver a healthy copy of the CFTR gene to patients' cells, enabling proper protein function.Spirovant Sciences, a company partly funded by Emily’s Entourage, is sponsoring one such therapy. The first patient received it in a 53-week clinical trial at Columbia University last November.Despite her worsening condition—living with 30% lung function, kidney issues, and pulmonary hypertension—Kramer-Golinkoff remains hopeful. “You have to make really conscientious choices … throughout the day on how to use your limited energy,” she told the AP. “We’re incredibly excited about the promise of gene therapies. They can’t come soon enough.”

Living With A Rare Genetic Mutation: Advanced Cystic Fibrosis

Quick Stories

My Eye Is Bleeding? What Does It Mean When You Have A Big Red Patch On The Whites Of Your Eye

Bone Cancer Awareness Month: Bone Cancer Isn’t Just an Elderly Disease: When To Suspect A Tumor And Know The Risks At Any Age

London Psychologist Gave Patients Ketamine, Now Loses License, Here's What We Know So Far

Health Conditions A-Z

Can Exercising Help Prevent Cancer? Study Says It Cuts Risk By 30%

My Eye Is Bleeding? What Does It Mean When You Have A Big Red Patch On The Whites Of Your Eye

Bone Cancer Awareness Month: Bone Cancer Isn’t Just an Elderly Disease: When To Suspect A Tumor And Know The Risks At Any Age