Like most new mothers, Coeur d’Alene resident Rebecca Schroeder remembers feeling in awe of her baby boy when he was born in the summer of 2007. In the days following his birth, she recalls counting Brady’s tiny toes and smoothing his blond hair. But at his two-week follow-up appointment, her baby was already showing signs that something was terribly wrong.
“That’s when I first heard the words ‘failure to thrive,’” says Schroeder as she numbly recalls Brady’s steady weight loss, shrill cries and a nurse repeating a heel-stick screening test for a disease called cystic fibrosis.
Cystic fibrosis, Rebecca and her husband Brock would learn, is a rare but fatal genetic disease affecting around 35,000 Americans (70,000 worldwide). Due to a dysfunctional protein, people with CF produce thick, sticky mucus that clogs the lungs, obstructs the pancreas and decreases the body’s ability to absorb food. CF patients often lead lives punctuated by lengthy hospital stays and strict medication regimes. And despite advances, their average life expectancy is still only in the mid-30s.
A confirmation call from the pediatrician’s office quickly launched the young family into a whirlwind of doctor’s appointments, testing and consults, including a prescription for pancreatic enzymes that had to be force-fed to Brady with every meal, and that he would need to take for the rest of his life.
“That was overwhelming,” recalls Rebecca. “And that’s one of the minor things now.”
By the time Brady was 2, old enough to graduate to a fitted “shaker” vest that mechanically loosens stubborn secretions in the lungs, he no longer protested the necessary medical treatments. In fact, he had been holding his nebulizer on his own during treatments since he was 9 months old.
Still, despite diligent compliance with his medical regimen, by the age of 4, Brady had endured multiple surgeries to remove his tonsils and adenoids, and to clear away the aggressively growing nasal polyps that took away his sense of smell and threatened to break the fragile bones in his skull. Soon he was cycling on three-week bursts of prednisone and steroid rinses just to maintain his airway.
The downward spiral came to a screeching halt once Brady was prescribed the breakthrough drug Kalydeco, which received FDA approval in January 2012 for people ages 6 and older with a specific gene mutation affecting only about 3 percent of CF sufferers.
Though not a cure, the drug dramatically slows the progression of cystic fibrosis. Remarkably, the wonder drug was financed almost entirely by the nonprofit, donor-supported Cystic Fibrosis Foundation. And though it targets only a few CF sufferers, the possibilities it represents have sent ripples of excitement throughout the medical community. It’s also making waves for the cost — nearly $300,000 a year — steep enough to cause many insurance companies to balk at coverage.
The company that makes Kalydeco defends the cost. “Kalydeco is the first medicine to treat the underlying cause of CF in patients with the G551D mutation and we believe the price reflects the benefit to these patients, the cost of the medicine’s development and our continued investment in the research and development of other potential new medicines for CF,” says Nikki Levy, senior director of corporate communications at Vertex Pharmaceuticals. As is often the case with other unusually pricey medications, Vertex works with families to make the treatment affordable. “Most patients taking Kalydeco who use our co-pay program have a fixed co-pay of $15,” says Levy.
In clinical trials, Kalydeco was nicknamed “blue lightning” because of its fast results. “As soon as Brady started taking the pills, the intense observation period started,” says Rebecca. After three days his snoring ceased and he began commenting on the way things smelled around him. “It gave him back one of his senses,” says Rebecca, who recalls Brady sniffing food, flowers and even rocks with glee. Brady also began gaining weight and his personality changed from irritable to inquisitive. A follow-up sweat test revealed Brady’s chloride levels had dropped to an astounding 17 mm/L from a baseline of 105 mm/L (a level greater than 60 is considered diagnostic of CF in those 6 months or older).
The Schroeders are proponents of the drug — Rebecca, a chemistry major, even tattooed the Kalydeco molecule across her foot — but are quick to admit it is no substitute for a cure. A recent gastrointestinal illness led to Brady requiring intense nebulizer treatments after just a few missed doses of Kalydeco. It was a humbling reminder of how fragile his health still is.
“We don’t know what the future holds for Brady,” says Brock, who explains that they have not yet decreased Brady’s 28-pill daily medication regimen, though his overall health has improved greatly. In fact, the family has been able to enjoy many firsts over the past year, including camping trips, vacations and even a live Christmas tree. “We’re constantly trying to find a new normal,” he says.
Promising new drug trials are underway that may benefit more than 50 percent of the CF population and bring a new normal to families around the world.
“Everybody in the community really has this idea that we’re going to cure this disease,” says Rebecca, who serves on a CF Parent and Family Advisory Board and organizes several annual fundraisers to benefit the CF Foundation.
“But when you’re dealing with a disease like CF,” she says with a sigh, “you don’t have the luxury of time.”