By Sheila Haar Siegel
Photos by Jennifer Silverberg
This story originally appeared in the Spring 2014 issue of Script. Emily is now a third-year student.
Like most parents, Sue Nickels took her daughter to the doctor for her regular checkups, expecting the brief bout of ear-piercing cries and pea-sized tears from the most recent installment of recommended vaccinations. Emily was two years old. Her mom was ready. Ready to scoop her up in her arms after the initial sting of the shots wore off. But she wasn’t prepared for what the doctor ultimately found.
Emily had been losing weight and, as first-time parents, Mike and Sue Nickels were keeping a close eye on her trajectory—making sure she was growing and developing at the pace of a normal 2-year-old. Their family doctor (Emily’s second cousin) suggested some testing. Ironically, the physician’s specialty was also Emily’s diagnosis: cystic fibrosis.
Her parents really didn’t know much about the disease. They didn’t know how to react. They just knew they wanted to make their little girl feel better. So they followed her doctor’s instructions, pumping Emily full of supplements with every meal to boost her nutrition and caloric intake (cystic fibrosis can cause malnourishment because the enzymes needed for digestion don’t reach the small intestine, preventing food from being absorbed). But, as it turned out, she didn’t need the supplements.
An inherited disease, cystic fibrosis (CF) affects the cells that produce mucus, sweat, and digestive fluids. The fluids are normally thin and slippery. But in cystic fibrosis, a defective gene causes the secretions to become unusually thick and sticky, plugging up tubes, ducts, and passageways, especially in the lungs and pancreas. But Emily’s pancreas was working fine. She is “pancreatic sufficient,” which occurs in only 10 percent of people with CF and means that her case is milder than most. She is able to digest her food and doesn’t need to ingest pancreatic enzyme supplements.
“Yeah, they didn’t know that until I was in kindergarten,” Emily says, “My parents suspected I was pancreatic sufficient and convinced the doctors to perform additional tests to confirm it. So I don’t have the more severe type of cystic fibrosis, so far at least…knock on wood.”
She still has to loosen the mucus in her lungs every day though, using an inflatable vest that vibrates at high frequency. Twice a day, she straps it on and hooks it up to a machine that pounds her chest for 45 minutes at a time. It’s an itchy treatment, but not terribly painful.
“It just takes time,” Emily says. “My lungs are pretty good. When I want to go out and I have to do my medicine, it’s kind of annoying because I have to wake up early to do it. Other than that, it’s not awful. Some people have to do it three, four times a day.”
She also inhales salt water (saline solution) through a nebulizer twice a day to help keep her airways open. But you’d never know it. In fact, during high school at Notre Dame in South St. Louis County, her teachers didn’t even know she had cystic fibrosis. She played softball, basketball, golf, and soccer, but none of her coaches had any inkling either until her soccer coach was called by a reporter from the St. Louis Post- Dispatch for an interview about Emily and other local scholar-athletes.
“I don’t really tell people,” Emily explains. “It really hasn’t impacted my life that much. Some kids are always hospitalized, and I’ve only gone to the hospital twice. And that was just because my mom wanted me to get extra medicine after my pulmonary function test went down from 93 percent functioning to 81. Otherwise, I’m pretty much in the normal range of breathing.”
In grade school, Emily was involved in swimming, volleyball, and anything else her parents could think of. “Exercise is very important for people with CF,” says her father Mike, a civil engineer who has become an expert on the disease after asking laundry lists of questions at doctor visits over the years, and who is now working to find a cure as a board member of the Gateway Chapter of the Cystic Fibrosis Foundation. “A good cardio workout is as effective as a treatment and is an important part of a CF patient’s daily health regimen.”
Emily’s mom is a physical therapist and, to Emily, a 10-foot-tall person to look up to. “I’m so much like her,” Emily says. “I like hanging out with her, talking with her.” Neither of Emily’s parents have cystic fibrosis, but both carry the recessive gene that causes CF. Emily’s 11-year-old sister has also been diagnosed with the disease. Her 17-year-old brother does not have cystic fibrosis.
Emily decided in the sixth grade that she wanted a career in the medical field. She knew she wanted to learn about medicine and how it affects her, and to see if she might be able to help others with cystic fibrosis. “Once I make up my mind, I don’t change it,” she says.
Her relentlessness has paid off. Now a second-year student at the College, Emily is a 5’4” guard on the Eutectic basketball team. Her STLCOP coaches don’t know about her cystic fibrosis either (well, until now, that is). She plays approximately 20 games a season from October through February and practices four days a week, for an hour and a half each session. Yet she never gets tired or out of breath.
“I have too much adrenaline,” she says. “It’s just so exciting. By the very end of a game, my muscles are just dead, but I don’t think I’ve ever been short of breath with a sport.”
She also runs to keep herself in top physical shape—for basketball and her health. During her senior year of high school, she won an Exercise for Life Athletic Scholarship, a national scholarship from the Boomer Esiason Foundation, for running 1.5 miles in 10 minutes. Only one female student and one male student nationwide received the $10,000 award, which went directly to cover tuition costs at STLCOP last year.
Emily currently works as a pharmacy technician at Neel’s Pharmacy in Crestwood and, eventually, hopes to practice pharmacy in ambulatory care, working with patients who have CF. “My cystic fibrosis will probably make me more understanding of how medicine keeps you healthy,” she says. “For me, I don’t want to lose lung function, because I won’t get it back. I want to keep on top of it and make sure I maintain it.”
And as Emily knows better than most, improvements in treatments and care are increasing the average life span, every year, for children and adults with cystic fibrosis. In the 1950s, few children with the disease lived to attend elementary school. Today, the predicted median age of survival for a person with CF is in the early 40s. Many people with the disease can now expect to live into their 30s, 40s, and beyond.
In 2012, the U.S. Food and Drug Administration approved a drug that may correct the underlying defective gene in four percent of people who have especially rare mutations of cystic fibrosis. Another drug, currently in phase III clinical trials, may help with the most common mutation, which affects 90 percent of CF patients. A second generation of similar, but more potent, medications is headed to phase I trials later this year. It’s early, but the results are encouraging.
“I know most people die from cystic fibrosis when they’re 38,” Emily admits. “But there are some people who live to age 60, which is good. I have a rare form of the disease, so we’ll see. I’m like the test dummy. But long term… yeah, hopefully it’s good.”