COLORADO SPRINGS — More than 30,000 Americans live with cystic fibrosis. May is Cystic Fibrosis Awareness Month, and this year, new research out of Children's Hospital Colorado shows a certain kind of proactive treatment for the disease is safe for children between the ages of two and five who have the most common form of cystic fibrosis. This research and the medication could slow, or even prevent, some of the future devastating consequences of cystic fibrosis.
Cystic fibrosis is a genetic disease affecting the way salt and water move in and out of the cells. It impacts the lungs, causing someone with cystic fibrosis to have thicker and stickier mucus, increasing the risk for lung infections. Liver disease could also result from the thick mucus. The pancreas does not work correctly to produce enzymes, so people living with the disease have a harder time digesting fats and proteins, making it difficult to grow or gain weight.
According to the Lead Study Author of new research examining the safety of proactive cystic fibrosis treatment on young children, Jordana Hoppe MD, the average life expectancy for someone with cystic fibrosis is in the late 40's. "However, as we begin to learn more about the new modulator treatments and we're able to introduce them into younger age groups, we're expecting that life expectancy will continue to increase," said Hoppe, who is a pediatric pulmonologist with Children's Hospital Colorado.
Hoppe explained the most common mutation in cystic fibrosis is called F508del. People with two copies of that mutation are eligible for specific modulator treatments, which are oral medications that affect the way proteins work to move salt and water across cells more efficiently. It can improve lung function, because the mucus is less sticky and thick.
Hoppe's research looked at the long-term safety effects of a certain modulator treatment (Orkambi) on children between the ages of two and five. She said no safety concerns were identified. Health benefits were seen on children receiving the treatment, in terms of improving growth, or digesting fats and proteins. Hoppe said it is the first time this young age group has been eligible for modulator treatment.
"The amount of time that it takes for parents and families to effectively manage cystic fibrosis is enormous."
Potentially, Hoppe said the modulator medication would help reduce the time spent on treatment. She said modulators are the first kind of proactive treatment for cystic fibrosis that will improve lung function, and reduce the frequency of hospitalizations. Those factors could mean a longer and better quality of life for patients. Starting the treatment at a young age puts the body in a better position to receive more effective treatments later in life.
Two Colorado Springs children were able to start the modulator treatment at age two. Rilee and Porter Pendergraft both have cystic fibrosis. Emily and Ty Pendergraft, their parents, have three children. Their oldest child does not have the disease. "We didn't have any experience with it before we had these kids. We didn't know that it was even a possibility for Rilee to have it. Whenever she was born, it was kind of a shock," said Ty.
Rilee and Porter have been on medication for their cystic fibrosis since birth, but managing the disease requires lots of time during the day. "I get home from work, we cook, and then we're eating supper, then we're cleaning the kitchen, then we're doing treatments, and then it's immediately bath time or bed time or both. And it's just, there's really no down time," said Ty.
On top of the treatments, Ty was also deployed during the pandemic. "It was exhausting to be alone, to be a single parent, and to have to do all that," said Emily.
Despite the challenges, the Pendergrafts describe their children as rambunctious and full of energy. Their kid's resiliency, combined with the new research regarding proactive modulator treatment, has given them hope for the future. They hope other families do not get too discouraged while fighting the disease. "We had this idea of what it was [cystic fibrosis] whenever they were born, and that, to be frank, that they wouldn't live to see a certain age. And to realize that might not even be the case anymore, that's pretty awesome," said Ty.
Since Rilee and Porter have been taking the modulator treatment, the parents say their digestive health has improved, they recover from sicknesses in a speedier fashion, and it has helped with weight gain.