Madison-area cystic fibrosis patients breathing easier thanks to new drugs

Jim Feldhausen, of Fitchburg, who turns 55 Sunday, is thinking about retirement and grandchildren, and plays volleyball.

Bethany Hawes, 36, of Montfort, west of Dodgeville, is going to her son's sporting events and no longer erupts in coughing fits after walking up the stairs.

Feldhausen and Hawes have cystic fibrosis, a genetic disorder in which mucus builds up in the lungs and digestive system, causing infections that often used to be fatal before adulthood. But after medical advances gradually increased life expectancy in recent decades , a breakthrough drug approved five years ago has transformed many patients' lives, boosting the expected lifespan from 46 years in 2019 to 61 years today .

"I didn't think I was going to make it" to retirement, said Feldhausen, who is now looking at stepping down from his state government human resources job within three years and thinking he could be around for any children his 19-year-old daughter might have.

"I can go up the stairs easily now," said Hawes, who is cheering on her son, Connor, 15, at his track meets instead of resting in the car like before. "I'm able to really be a present mom, which is huge."

The drug, Trikafta, has allowed many patients to reduce or break free from arduous daily routines of inhaled medications and chest vest therapy, in which an inflatable, vibrating vest helps clear thick mucus from the lungs.

While Trikafta can treat about 90% of the nearly 40,000 Americans and roughly 750 Wisconsinites with cystic fibrosis, it doesn't work on patients with some genetic variations. It costs more than $300,000 a year , typically covered by insurance, and has brought some reports of neurological side effects such as memory loss and brain fog.

At UW Health, which took part in the clinical trial for Trikafta, nearly all 350 or so patients with cystic fibrosis are on Trikafta or similar drugs, and four of them are in their 70s.

The need for lung transplants and hospitalizations has dramatically declined, said Dr. Andrew Braun, director of UW Health's adult cystic fibrosis clinic. Before Trikafta, he said, three to eight patients with the condition routinely needed inpatient treatment at any given time at UW Hospital.

"Now, it's usually zero to two. It's often zero," Braun said. "My dream job has always been to be a cystic fibrosis geriatrician, and it's looking like I'll be able to do that."

UW-Madison research

Nearly 40 years ago, UW-Madison played a pivotal role in treating cystic fibrosis.

In 1985, Wisconsin became the second state, after Colorado, to test newborns for the condition, through blood samples taken by pricking their heels. From 1985 until 1994, UW researchers studied babies whose parents were immediately notified of positive blood tests and those whose parents didn't get the news until the children reached age 4.

The study found that early diagnosis and early use of enzymes and other treatments led to increased height, weight and cognitive function, bolstering the argument for newborn screening. In 2004, the federal government cited the Wisconsin study as a key reason for recommending that all states begin such testing. By 2009, all states did.

In 1994, five years after scientists discovered the gene mutation that causes the condition, Pulmozyme, the first drug specifically to treat it, was approved. Other treatments came along, including aerosolized antibiotics and hypertonic saline, which reduced symptoms and helped patients live longer.

The new era of treatment began in 2012, when the first pill to treat the underlying cause of the condition was approved for a small group of patients. Ivacaftor, or Kalydeco, corrects defective chloride channels in patients' cells, a defect that creates salt build-up and leads to thick mucus.

Kalydeco's approval was later expanded to more patients, and two similar drugs were sanctioned before Trikafta, a three-drug combination pill, was launched in October 2019 .

All of the drugs were developed by Boston-based Vertex, in part through funding from the Cystic Fibrosis Foundation . The company has applied for approval of a new triple combination pill , for which UW Health has also participated in a clinical trial.

The turnaround in prognosis for patients on Trikafta and the other chloride channel modulator drugs has been so dramatic that children with the condition no longer automatically qualify for Make-A-Wish foundation support .

More patients with cystic fibrosis are working and becoming pregnant, Braun said. But as many live longer, more are developing diabetes and some feel so-called survivors' guilt for outlasting others. "We have a lot of mental health changes occurring," he said.

Breathing easier

When Hawes was diagnosed two months after birth, doctors told her parents the average lifespan was 16, she said.

Her parents had to learn how to give her enzymes and do chest therapy, pounding on her chest to release mucus before vibrator vests were widely available. Her father, Don Hawes, left his job in the mailroom at Land's End and became a nurse , eventually working at UW Hospital's unit for cystic fibrosis patients.

Bethany Hawes said she was frequently hospitalized, especially during high school, which was "really rough."

Her health improved enough to allow her to graduate from UW-Milwaukee, have her son, get a master's degree from Concordia University Wisconsin in Madison and work at the Iowa County Aging and Disability Resource Center. But by 2016, her lung function deteriorated to less than 40% of normal, requiring her to quit her job and causing her to cough repeatedly and become exhausted when walking up stairs.

In 2019, after Hawes started on Trikafta, she immediately felt better, she said. She still takes inhaled medications and uses the vibrator vest, but she isn't in the hospital or on intravenous treatments as often and her lung capacity is now more than 50%.

"Compared to what I had, it's amazing," she said.

Living longer

Feldhausen, who had symptoms as a child and young adult, wasn't diagnosed with the condition until he was 33, when he was told life expectancy was 36.

He and his wife, Colleen, blew their savings on a cruise. "I thought he was going to die," said Colleen, an administrator at UW Health.

They moved from Virginia to the Madison area to be near UW's clinic for adults with cystic fibrosis and closer to their families in the Green Bay and Chicago areas.

Since cystic fibrosis hinders male fertility, the couple adopted a child from China, not knowing how long Jim would be around. "I hoped I could see her graduate high school, but I thought that was a stretch," he said.

Josie, 19, graduated from high school this year and is a first-year, pre-med student at Edgewood College.

When Feldhausen started on Trikafta, he had what is known in the cystic fibrosis community as "the purge" : "I sat over a trash can and coughed up about two cups of nasty goo," he said.

Soon, he stopped using inhaled treatments and the vibrator vest. With lung function of more than 60% today, he typically plays volleyball three times a week.

A recruitment director at the state Department of Administration, Feldhausen in recent years started saving for retirement — something he never imagined a decade ago — and plans to stop working within three years.

He still has lung scar tissue and other lasting damage, but he figures he has many good years left.

"I don't expect to live a normal lifespan, but 70 seems pretty realistic," he said.