Kelli Bartness is not only a Marian mom and an active volunteer in the Marian community, but she’s also a Cystic Fibrosis patient. Ellie Peter is a junior at Marian, active in the journalism program and also a Cystic Fibrosis patient.
To understand people with Cystic Fibrosis, it’s important to understand what the disease does to the body. Cystic Fibrosis (CF) is a progressive genetic disease that affects the lungs, pancreas and other organs. In people with Cystic Fibrosis, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride-a component of salt- to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.
“CF is a respiratory disease where mucus gathers on the lungs and makes it so they can’t produce enough pancreatic enzymes. It makes it hard to catch your breath and things like that, you also can’t digest food properly,” Peter said.
People with CF have inherited two copies of the defective gene, one copy from each parent. Those with only one copy of the defective CF gene are called carriers but don’t have the disease. Each time two CF carriers have a child, there is a 25% chance that the child will have CF, a 50% chance that the child will be a carrier, but will not have CF and a 25% chance the child won’t be a carrier and won’t have CF.
Avoiding germs is a top concern for people with CF. This is where the movie “Five Feet Apart” gets its idea. People with CF should never meet, as they carry bacteria within their lungs that could be harmful to each other.
For people with CF, being close to others with the disease puts them at greater risk of getting and spreading dangerous germs and bacteria.
“Not being able to meet other CF patients really wasn’t an issue until I was an adult because the research wasn’t there to demonstrate it was dangerous,” Bartness said. “So as an adult, I don’t have any other contact other than social media. Most of my friends are ‘non-CFers’ and I can go see them anytime I want to, but CFers have a wide range of different types of pneumonia and MRSA infections. That’s a very dangerous virus you can’t get rid of.”
In simplistic terms, people with Cystic Fibrosis lack the gene to produce the proper bacteria to break up the mucus in the lungs, pancreas and intestines. This causes thick mucus to clog these organs and leads to infections, breathing problems and other lung diseases.
It’s important to remember, especially in the era of COVID, just because someone around you is coughing doesn’t mean they are going to get you sick. CF causes excessive coughing because the body is trying to push out the mucus it can’t break down.
COVID has made it harder for Bartness to be in public, not just because she’s heavily susceptible to catching the sickness and having more extreme symptoms, but also because she has received more side eyes and dirty glares from people for coughing in public.
COVID also changed how Peter went about her day to day life. “COVID affected my experience because it limited who I could be around,” Peter said. “My parents wanted me to wear a mask more often and it was mostly more warnings to keep on my medications and be careful around people.”
CF has an extensive and relatively recent history. In 1938, American pathologist Dr. Dorothy Andersen coined the term “Cystic Fibrosis of the pancreas.” Cystic Fibrosis of the pancreas means the small tubes that transport these enzymes out of the pancreas become blocked with mucus. The enzymes build up in the pancreas instead of reaching the digestive system, causing the pancreas to become inflamed.
Problems with salt and water loss through the skin in children during the 1948 New York heatwave led to Dr. Paul di Sant’Agnese seeing infants sick with dehydration. This consequently led to his discovery that the sweat of children with CF had abnormally high concentrations of salt, leading to the ‘sweat test’ – which is still used today.
Bartness was diagnosed through this new ‘sweat test’ when she was 18 months old because she wasn’t progressing like a child should. “When I was diagnosed, it was called ‘failure to thrive.’ Most babies are supposed to triple their weight by the time they’re a year old. I hadn’t even done that after a year and a half. I looked undernourished and skinny. My parents had a friend who was a nurse at National Jewish in Denver and they specialized in respiratory illnesses. I did the sweat test and my skin was super salty, and paired with my very low weight I was diagnosed with CF.”
Peter was diagnosed with a recent advancement in newborn screening, which is different from how Bartness was diagnosed. “They made the test a requirement the year I was born, and I was actually the second baby diagnosed this way. I did a sweat test a week after that to confirm I had it,” Peter said.
Each treatment routine is different for every patient but for Bartness, it starts with a lung treatment for an hour in the morning, which involves a vest that inflates to break up the mucus in her lungs. She then takes an assortment of pills and inhalers throughout the day and ends with another breathing treatment at night.
“My own care currently is taking enzymes to digest my food because my body doesn’t do that efficiently by itself. Without pills, I get sick,” Bartness said. “My lung treatments include the vest and an inhaler, with Albuterol and Pulmozyme, and also Trikafta, which is a new advancement in 2020, that really was a game changer for CF patients. I cough less which means I sleep better, I eat better and I have more energy. It was a total game changer for me.”
Peter said her everyday care includes a morning and night treatment, on top of medications. “I wake up at 5:45 and do a vest treatment for half an hour, and at night I do another 30 minute treatment with a steam-like medicine called Pulmozyme. I also take a handful of medicine before breakfast and dinner.
There are close to 40,000 children and adults living with CF in the United States. The life expectancy of a child born with CF has improved steadily, largely due to advances in disease surveillance and more aggressive treatment strategies. Nevertheless, patients with CF die too young.
Data shows that of the deaths reported in the Registry in 2019, known as the median age of death, half occurred before the age of 32. Meaning too many people with CF miss the opportunity to finish school, begin careers, start families and reach other milestones.
Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s and beyond. For those living with the disease, many still face significant challenges, including frequent hospitalizations, complications such as CF-related diabetes and depression and time-consuming treatment plans that can take two to three hours a day.
“I knew at a young age, 7 or 8, my lung disease was fatal,” Bartness said. “Despite that, I’ve always strived for what I thought was normal. Graduating from high school, going to college, getting a job, getting married and having a family. Normal milestones. I’ve done that and I’m blessed.” She continues to fight her illness and lives her life without restrictions.
Peter wants people to know that they can help by being aware of this disease. “There’s a huge organization for CF called the Cystic Fibrosis Foundation you can support,” Peter said. “There’s new medical advancements in the CF world that bring doctors closer to a cure every day. Any support brings people closer to a life without CF.” To learn more about Cystic Fibrosis, visit cff.org.