Ten-year-old tackles cystic fibrosis
By Josh Baxt
Joshua and mom, Lynette
Joshua Varnell wants to play football, but it’s not an easy sell. Though he participates in martial arts and other sports, his parents are concerned that football might be too much for him. The 10-year-old suffers from cystic fibrosis (CF), a genetic disease that deposits thick mucus in his lungs and digestive organs. The condition has made it difficult for him to breathe at times. For years, Joshua has had a chronic cough, a daily reminder for his mother, Lynette, that they must be constantly vigilant to manage his disease.
“He used to cough a lot at night, even in his sleep,” said Lynette. “It just rattles your heart.” Vigilance and football go hand in hand. The family made a deal — if Joshua follows his entire CF regimen, every day, without fail, he could play football.
For those who can’t imagine a 10-year-old
even making his bed every day, consider the bar Joshua has to reach. While CF is a manageable condition, keeping it under control is far from easy.
Because the disease impairs the body’s ability to distribute digestive enzymes, Joshua must take supplements, which come in very large capsules; he takes six pills with each meal plus another three with snacks. He must also take inhaled antibiotics to fight off the lung infections so common in CF patients.
But the real challenge is controlling the mucus in his lungs. He uses a bronchodilator and inhales an enzyme preparation to help liquefy it. He wears a special vest — 20 minutes, twice a day — which connects to a machine that shakes his entire chest to loosen thick mucus. Timing the treatments adds another layer of complexity; Joshua uses an iPad alarm to keep him on track.
In addition, he must also monitor his breathing and avoid dehydration. To make matters even more complicated, Joshua also has asthma.
But none of that is holding him back. Mark Pian, M.D., who specializes in pulmonary/respiratory medicine at Rady Children’s Hospital- San Diego, directs the Rady Children’s/University of California, San Diego Cystic Fibrosis Center, and is a professor of pediatrics at UC San Diego, has been impressed by how Josh and his family handle his CF.
“The treatments are very invasive in terms of quality of life,” Dr. Pian said. “This disease is like a depth charge going off in the middle of a family. It’s a very serious, chronic disease, and its treatment requires a serious, sustained effort.”
Dr. Pian also conducts CF research with the goal of discovering new treatments. And Joshua, even at his young age, knows how important this is. “Very few young children understand why we want them involved in research, but Joshua gets it,” Dr. Pian said. “He’s okay with getting his blood drawn because he wants to help others with CF.”
Thanks to participation by CF patients in clinical research studies, a new medication to treat the disease was approved by the Food and Drug Administration earlier this year. Since March, Joshua has been taking the drug, called ivacaftor (Kalydeco), which treats the underlying causes of CF rather than the symptoms.
CF is caused by mutations in the CFTR protein, which must travel to the cell surface to function. In most CF patients, the cells’ quality control mechanisms eliminate the defective protein before it gets anywhere near the surface. However, in a small number of cases (around 4 percent), the protein is damaged but still makes it to the top. That’s where ivacaftor comes in; the drug helps the damaged protein perform its normal function and has made a dramatic impact on Joshua’s life.
“My endurance is way better,” said Joshua, “especially with boxing. I can last longer and not get tired. And I don’t cough when I’m getting tired; it just doesn’t happen anymore.”
Joshua has benefitted in another way. Thanks to ivacaftor and commitment to his CF management routine, he is now on a football team, playing tight end and linebacker.
But even more important, he hardly coughs at all. And though he must still maintain his rigorous daily regimen, Joshua and his family are hopeful that continued research may one day eliminate that, as well. But for now, the family is grateful for the help they have received.
“We’re very thankful for Dr. Pian and everyone on the staff at Rady Children’s,” Lynette said. “When he was diagnosed with cystic fibrosis, I was overwhelmed and stressed out. But they helped make the journey easier. We are blessed.”
Originally published in U-T San Diego, October 2012