BILLINGS — Breakthroughs in cystic fibrosis treatments over the years have transformed outcomes for many patients, but not every therapy is available or effective for everyone.
Randy and Lanore Mehling of Billings welcomed their daughter Adaira into the world in September 2010, not knowing something was wrong.
Watch Adaira's parents talking about cystic fibrosis and their journey:
"We were bringing her in for a weight check because her weight had been dropping," Lanore said Thursday.
Then came the diagnosis.
"When the CF team sat down and said, 'Your daughter has a lifelong chronic, possibly life-threatening, possibly life-shortening disease,' and it's those words every parent dreads to hear," Randy said.
For the Mehlings, every day can be a challenge.
"The five stages of grief we go through every single day, every single week, every single month," he said.
Cystic fibrosis modulators — medications designed to treat the genetic cause of the disease — have changed lives for many patients. But Adaira is different.
"The modifiers are very successful in a lot of patients, but she is one of a small percentage of patients that isn't eligible for any of them because they don't work on her," he said.
Dr. Jeri Lysinger, pediatric director of cystic fibrosis at the Cystic Fibrosis Center of the Northern Rockies, says missing out on these therapies is a significant setback.
"Unfortunately it's a big deal for the people that don't qualify for these therapies because they really are a game changer," Lysinger, who is also a Billings Clinic doctor, said. "About 5% of people with CF don't qualify for Trikafta because they don't have a type of mutation that it would work for. And then there's probably an additional 5% of people who can't tolerate the medication, so we say in general about 10% of people with CF aren't benefiting from Trikafta."
In Adaira's case, the medication has nothing to latch onto.
"She doesn't even make a protein, so there's nothing for this medication to work on to improve the function, and so because of that, she doesn't respond to Trikafta," Lysinger said.
For now, the focus is protecting her lungs.
"We're trying to preserve as much lung function as possible, knowing that there may be a cure in the near future, so that we can try to keep them as healthy as possible until we get to that time," Lysinger said.
Lysinger says there is reason for hope.
"My couple patients that don't qualify have been healthy so far, and so that gives us some hope that we can make it until there's a new therapy that might work for them," Lysinger said.
Meanwhile, Adaira refuses to let the illness define her.
"I like to go roller skating. I like drawing. I like hanging out with friends," Adaira said.
With the support of family, nurses and physicians, she finds her optimism.
"The most way I stay positive on a day-to-day basis is remembering that I have the support I need to stay alive," Adaira said.
Her message to others facing chronic illness is one of resilience.
"Even if you don't always have a cure for your disease or your illness, whatever it is, you are still your own self beyond your conditions," Adaira said.
