WESTMINSTER, Colo. — One of the most common genetic conditions in the country is cystic fibrosis, affecting about 30,000 people. While treatment has improved for those living with the disease, there is no cure.
David and Brittany Beaver are raising their family in Westminster. They have three daughters, and the youngest is Cora.
“We first heard about cystic fibrosis when we got the call from Cora’s doctor," Brittany said. “I did what any mother should not do. I Googled it.”
Cystic fibrosis is a genetic disease that makes it difficult to breath, digest food, and grow. The signs and symptoms can show up in newborns, meaning early diagnosis is critical.
“She just wasn't gaining weight. And we didn't know why, and that wasn't the case for the older ones," Brittany said. “We realized it was because she couldn't digest her food because of the CF.”
Dr. Stacey Martiniano is a pediatric pulmonologist at Children's Hospital Colorado, who started working with their cystic fibrosis clinic over 10 years ago.
“Historically, cystic fibrosis was a disease that was fatal in childhood," Dr. Martiniano said. “Now, babies that are born with CF — we really expect them to live full lives.”
The advancements in the treatment for cystic fibrosis have led to longer life expectancies.
“We start treatment very early with pancreatic enzymes that help babies digest their food, absorb the nutrients and grow. We also then start treatments to help protect lungs. And then most recently, in just the last few years, we have these really great new disease modifying drugs that really have improved the outlook for children with cystic fibrosis," Dr. Martiniano said.
In addition to the treatment, there is a newborn screening process for cystic fibrosis. Dr. Martiniano, along with the cystic fibrosis team at Children's Hospital Colorado, have been working with the Colorado Department of Public Health and Environment to try and find ways to improve the screening algorithm.
“We partnered with the Colorado Department of Public Health and Environment, shared data together to look at specifically babies who were diagnosed with cystic fibrosis and seen here at Children's Hospital Colorado, but were missed by the newborn screen," Dr. Martiniano said. “Looking back over the last 12 years, we did determine that there were eight babies missed through newborn screening in our classic algorithm.”
Those with Children's Hospital Colorado said most of the babies who were missed by the screen were diagnosed early and received the care they needed because of backup mechanisms in place. However, Dr. Martiniano does not want to rely on those measures.
“We found that there could be some inequities put through our current algorithm. So, really making sure every baby has equal access to being picked up through this screen and be able to get that follow-up care that they need," Dr. Martiniano said. “With increased awareness, we really hope that no babies are missed in their diagnosis.”
The Beaver family will never stop pushing for a cure for cystic fibrosis, but are optimistic about the future with the treatments their daughter uses.
“I would say that there's hope now, that wasn't there before," David said.
