The mission of the 65-year-old Cystic Fibrosis Foundation is simple: to cure cystic fibrosis. It funds research and drug development, partners with the CF community and advances high-quality, specialized care in order to provide all people with CF the opportunity to lead long, fulfilling lives.
“In 1989, we were all thrilled for the medical breakthrough that occurred when CFF-supported scientists discovered the defective CFTR gene,” says Bethany Howell, development director of the Arkansas and West Tennessee Chapter.
In the body, the CFTR gene provides instructions on how to make a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears and digestive enzymes. Mutations in this gene cause the protein to malfunction or not be made at all, leading to a buildup of thick mucus, which leads to persistent lung infections, destruction of the pancreas and organ complications.
“Following this, we established Path to a Cure, an ambitious research agenda to accelerate treatments and drug development for the underlying cause of the disease and ultimately deliver a cure for all people with CF,” Howell says.
“Fast-forward to today and we are 60 chapters strong, all working together to connect, fundraise and increase awareness about CF across the country.”
Living with a Killer
Noel Mabry has volunteered with the CFF for seven years. As a child, she was skinny, had stomach issues and sinus infections, but was otherwise generally healthy.
“My PCP said it was allergies and never acknowledged my GI problems. I would eat my parents out of house and home and never be full,” Mabry says.
At age 14, after an upper respiratory infection and constant fever, she was finally diagnosed with CF. In her late teens, Mabry had her first lung infection that landed her in the hospital with IV antibiotics for 14 days. After that, she began to have more lung infections and hospital stays, sometimes three or more a year.
Now as an adult, she says life with CF is difficult. She works in the medical field, starting as a sales rep for oxygen and CPAPs, a career that “seemed like a perfect fit.” Because she stayed sick and was oftentimes hospitalized after exposure to illnesses from working in doctors’ offices, she made the decision to leave and chose a position in mental health.
“I suppose I chose that due to struggling with my mental health ever since I’d been diagnosed with CF,” says Mabry, talking of “ups and downs” and “major anxiety and depression.”
“Many people felt that I should stop working and get on disability, but I refused. I want to work as long as I can.” Now she works in orthopedics and is able to stay mostly well.
Today, thanks to specialized care and a range of treatment options, people with CF are living longer. To stay healthy and control symptoms, all ages can manage the disease by following a regular treatment routine including airway clearance, medication, a fitness plan and nutritional therapies.
Many face the possibility of a lung transplant to extend and improve quality of life, but it involves an extensive evaluation process and a commitment to living a lifestyle required to keep new lungs healthy.
In 2018, modular therapies like Kalydeco, Orkambi and Symdeco designed to correct the malfunctioning protein made by the CFTR gene existed in the market. But different mutations cause different defects, and these medications were only effective for people with specific mutations.
“In 2019, we celebrated the arrival of the first triple combination therapy, Trikafta, for those with one copy of the F508del mutation,” Howell says. F508del, a class II defect, is the most common mutation resulting in CF with more severe manifestations. “With approval, approximately 90% of people with CF could eventually be helped.”
A mother and wife with a full-time job, before Trikafta, Mabry says she would go to bed before dark.
“I was so exhausted. Now I have so much more energy,” she says. “I was skeptical about it at first. I felt like it was too good to be true, but I’d read where other CFers had a complete turnaround. So I decided to give it a shot.”
She received her first packet of Trikafta in February of this year and saw almost an immediate change. “Within an hour, I was coughing up everything in my lungs. It was incredible. Within a couple of days, I felt like a normal person again. No coughing until throwing up every morning then being in so much pain from the coughing fits. I was able to take the stairs at work and not cough a single time. Honestly, I can’t remember the last time I coughed.”
This milestone in the fight against CF is a dream-come-true for many. However, according to Howell not all people with CF will benefit from this new therapy. Some may experience side effects from drug interactions or nothing at all thanks to rare mutations that don’t respond to the triple combination.
“I have gained 15 pounds in three months. I have a constant runny nose and acne like a teenager, but it is so worth it to feel this good,” Mabry says.
“My whole life after being diagnosed, I worried about my future. I worried about living long enough or being healthy enough to see my daughter graduate high school, college, get married and have kids. Trikafta changed all that. I know I’ll be here a long time with her. I now believe that CF won’t take my life anymore.”
COVID-19 & CF
“Many of us CFers have begun to think we’re Superman on Trikafta because we’ve been well for so long, but we aren’t,” Mabry says “I think COVID brought us back down to Earth.”
According to the CDC, no evidence suggests people with underlying health conditions are at higher risk of becoming infected. But there is evidence that people with underlying health conditions, including lung disease, are at greater risk of developing serious illness from COVID-19 if they become infected.
The CFF recommends people with CF and those close to them should continue taking strict precautions to stay healthy and follow the CDC’s guidance.
“I was able to be on FMLA for 12 weeks and I really quarantined myself. I rarely stepped outside. After that, I made the decision to return to work,” Mabry says. “I work in the hospital where the first person in the state tested positive for COVID-19.
“It was pretty scary, but I take extra precautions when working. I glove up and mask up and wash my hands all the time. I keep my distance from people and have avoided social events.”
To better serve clients, CF Care Centers use telehealth for quarterly medical visits and the CFF has secured approximately 2,500 home spirometers to make available to patients, a program expected to expand as the supply of spirometers increases.
“Some hospitals are developing care rationing and triage plans that allow pre-existing health conditions to be used as a determining factor in rationing care. The CFF is educating the medical community about why it is inappropriate to use CF as a determinant for care,” Howell says.
The CFF is leading the charge, urging Congress to expand paid family and medical leave for people with CF and the working members of their household, to ensure that insurers follow CDC guidelines for medication refills and to maintain social distancing efforts until medical evidence shows it is safe to relax them.
Because of COVID-19, the CFF is using virtual events to engage and support the community. The 2020 Finest Gala, originally set to be held in October, was recently reimagined in order to help safeguard the health of the community.
“A virtual celebration for our incredible class of honorees will be held this fall, while the in-person gala will take place in 2021,” Howell says. “All donations, sponsors and ticket purchases already collected for 2020’s gala will be transferred to 2021 to ensure our biggest event to-date.”
The new Finest Gala combines the Breath of Life and Taste of the Finest into one event. “It is truly the best of both worlds,” says Alisha Curtis, event chair.
“The funds raised from this event will be devoted to the CFF’s mission of eventually finding a cure for CF. Strong local support is very important because all money donated for the Arkansas chapter is raised in-state with no national funding.
“With approximately 300 individuals currently living with this disease in Arkansas, it is imperative that we continue to support the CFF and its important mission.”
The Next 65 Years
“The CFF is the best story in medicine today, founded by parents who refused to sit back and watch their young children die,” Howell says. “People with CF are now living into their 30s, 40s and beyond.”
Despite extraordinary progress over the past 65 years in helping people with CF live longer and healthier lives, the CFF’s future is focused on finding treatments for the underlying cause of disease, including for those with rare mutations, and will “not rest until CF stands for Cure Found.”
A Breath of Innocence
In 1965, 4-year-old Ricky Weiss coined a term forever providing children with an easy way to pronounce a disease that is so hard for them to live with.
As the story goes, Weiss told his mother, “I know what you are working for,” after overhearing her on the telephone in the next room asking for donations from civic clubs, social groups and service organizations.
“What am I working for, Ricky?” she asked with apprehension. Because of each of her three sons' cystic fibrosis diagnoses, she had taken on the charge of raising money for the cause that had become most important to her – CF research. He didn’t yet know that he had the life-threatening genetic disease that now affects 30,000 children and adults in the U.S.
“You are working for 65 roses,” he said to his mother, who now had tears in her eyes.
This year the Cystic Fibrosis Foundation celebrated its 65th anniversary of 65 Roses Day on June 5.