WILMINGTON, N.C. (WECT) - Jacob Venditti spent most of his 26 years not letting cystic fibrosis impede his active lifestyle.
He surfed some of the biggest waves in the world. He did twists and turns on skateboards, not worrying about the potential impact of losing his balance. Jacob knew doctors had diagnosed him with CF as an infant, and he’d learned about the average life span for people living with the disease.
“That, when I was younger, made me live fearlessly, made me push my limits to the extreme because I wanted to live life to the fullest because I knew I only had so long,” Jacob said. “I always had a hard time admitting to myself that I had it. Kind of pretended I didn’t have it. As I got older, everything became a little more tough.”
Patients with cystic fibrosis have a protein (cystic fibrosis transmembrane conductance regulator, or CFTR) in their body that does not work correctly.
According to the CF Foundation website, “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. In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications.”
Jacob said he did not notice CF having an major impact on his system until about four years ago. He took what is called a ‘pulmonary function test’ which showed, in basic terminology, that he could only use about 30 percent of his lungs.
“I couldn’t breathe as well, I couldn’t surf as much, I couldn’t skate as much,” he remembered. “Everything just became harder to be motivated to do.”
Along with losing those favorite outlets, Jacob slowly found that even holding a job became too difficult. He turned to art, creating pictures and designs for skateboards and surfboards that often feature his ‘Live Fearlessly’ mantra.
He continued daily treatments designed to help with his breathing or break up the mucus gathered in his lungs. In early 2019, though, Jacob’s medical condition worsened, along with his outlook.
“There was four times when I was admitted to the hospital, with complications between them,” he said. “I had pneumonia twice. My ankles were swelling up out of nowhere, I couldn’t walk around. That was really scary. Stomach pains that were awful. I was going to emergency room for random things like that. There were moments where I definitely felt like I didn’t want to get out of bed anymore, because what was the point? It was just going to be so difficult to get up and down the stars. It’s tough when you cough hard as you can all the time. It’s embarrassing at the same time.”
During one of those hospitalizations Jacob said his doctor told him about a new medication called Trikafta, a combination of three different drugs, that showed promise in treating CF patients.
The doctor wanted to get Jacob into a clinical trial for the triple-combination therapy. But before that happened, on October 21, the Food and Drug Administration approved Trikafta to treat patients 12 years and older who have the most common cystic fibrosis ‘mutation.’ That represents about 90 percent of the CF population.
“Trikafta is actually three medications mixed together, which restores the function of that CF protein,” said Dr. Scott Donaldson, the Director of the Adult CF Care Center at the University of North Carolina at Chapel Hill. “Because it’s a pill, it gets to all of the organs that are involved. It’s a total game changer. We’ve sort of seen it coming and had little tastes of what would happen when we successfully restored function of this CF protein. But this really changes everything.”
Jacob received approval to begin taking Trikafta in November, and almost immediately, he started seeing results.
“Within four days of taking it, I could walk up the stairs again without stopping mid-stairs or at the top of the stairs and catching my breath before I came inside,” Jacob said with a smile. “I slept through the whole night, like easily, without waking up, coughing, spitting on my floor. I just woke up in the morning and — wow!”
Donaldson said he’s received similar reports from other patients.
“As patients begin the medication, it immediately begins to restore the movement of salt and water,” he explained. “This allows the lung to then be able to move mucous out of their lungs. It’s relieving a lot of obstruction of airways by getting the mucous out of their lungs. This is the reason why they are immediately feeling better, their lung function is immediately better, and symptoms change. We’ve seen patients whose lung functions has gone up 30, 40-plus percent, in a day or two! It’s shocking how quickly the improvements can occur.”
While Trikafta is showing results in relieving symptoms, Donaldson said it will not be able to reverse the lung damage some patients have suffered because of the disease. He predicted when Trikafta is ultimately made available for younger patients, it could prevent damage from happening.
“Even just months ago, if a baby is born with CF, not taking this medication into account, we would still be telling those parents that your child is probably going to die in their late 40s,” he said. “That’s not long enough for any parent for sure. Today, giving this medication to a baby with CF, when that becomes available, personally, I think we may be able to tell those parents to be expecting their child to have a normal lifespan, with normal lung functions. There will still be complications and things we need to take care of, but we’re really just completely altering the face of this disease.”
For now, Jacob will continue on his Trikafta regimen, along with his other treatments. He has another pulmonary function test in early 2020 and is excited to see where his level stands after several months of taking the drug.
While he doesn’t know how much his condition will improve in the long run, these positive early indications have him looking forward to surfing and skating again.
“I was about to get on the lung transplant list before this came out,” he says about the medication. “It was to the point where I was going to need something, oxygen on a daily basis, and I was going to have to give up on my dreams. Now, it’s changed. It’s a miracle, really.”