A Strong Voice in the Fight Against Cystic Fibrosis

March 13, 2019 9:30 AM

A U-M patient with cystic fibrosis is making an impact, raising awareness and money to improve the lives of people who have the inherited, chronic disease.

Emily Schaller

In more ways than one, Emily Schaller is a rock star.

The vivacious, 37-year-old Detroit native played drums in a local band when she was younger.

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She remains larger than life today, a star whom countless others look up to, as she works tirelessly to spread awareness about cystic fibrosis, the genetic disease she was born with.

Spreading awareness

About 30,000 Americans have this rare disease, which affects many organs but particularly the lungs and digestive system. It is caused by mutations in the gene that makes the CFTR protein.

People with CF experience frequent lung infections and persistent lung damage because they are unable to clear thickened mucus in their lungs. Over time, this damage makes it hard to breathe. Patients also have trouble gaining weight, because the disease prevents the pancreas from supplying the digestive enzymes that are needed to break down food.

Schaller has spent her life educating her peers about her condition.

“I grew up talking about CF — I’d bring my vest and nebulizers to school and teach kids about CF,” she says of her treatment equipment.

As an adult, she eagerly sought to dispel some of the many myths surrounding the disease, including the myth that people with CF only live until their 20s.

“It’s still thought of as a childhood disease,” Schaller says.

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In 2004, she and her brother started playing concerts around Detroit to raise money and teach people about CF.

She founded the nonprofit RockCF to raise awareness of the disease through music.

Things began to crystallize for Schaller’s nonprofit as she searched for ways to fend off her increasingly worrisome symptoms.

“As I started to get sicker and sicker in my early 20s, I said to myself, ‘What have I not been doing that might make me feel better?’”

The missing piece

Spurred by the increasing popularity of running and wellness, Schaller decided the missing piece to feeling better might be exercise, something her parents had encouraged her to do as a young child.

“After months and months of training, I worked up to being able to run 1 mile, then 2, then 3. I did my pulmonary function tests at U of M and found my lung function had gone up from around 50 percent to 74 percent.

“Instead of being in the hospital three to four times a year, I was going only once a year,” she says.

Since then, Schaller has run 18 half-marathons and two full marathons.

Her personal running journey has morphed into an annual half-marathon held by RockCF in Grosse Ile, Michigan. The University of Michigan co-sponsors the race.

“We’ve had about 18,000 people run this race since we started in 2011, people who come to run an awesome race, learn about CF and become a champion for our cause,” Schaller says.

Treating CF

Schaller sought treatment from the adult cystic fibrosis team at Michigan Medicine, where she’s been receiving care since 2007.

“Beyond adherence to a complex treatment regimen, daily exercise is huge for maintaining function with CF,” says Shijing Jia, M.D., assistant professor in pulmonary and critical care medicine at U-M.

Treatment for CF can be burdensome, requiring patients to spend up to two hours a day on therapy. Typically it involves inhaled drugs, including dornase alfa, a drug that cuts up leftover DNA in thickened mucus to help patients clear their lungs, and hypertonic saline to improve lung function.

Patients also use a vibrating vest to help loosen mucus in their lungs, inhaled antibiotics for lung infections and several enzymes to help digest meals.

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Because of the intensity of treatment, people living with CF develop close relationships with their physicians starting at a young age.

Since 2007, virtually every newborn in Michigan has been screened for CF, allowing for early treatment for those who are diagnosed.

Hearing that a seemingly healthy baby with no symptoms has cystic fibrosis can be stressful, says Samya Nasr, M.B., B.Ch., director of the Cystic Fibrosis Center and professor of pediatrics at U-M’s C.S. Mott Children’s Hospital.

One of the first things her team does once a baby is found to have CF is route the parents to accurate sources of information, such as the Cystic Fibrosis Foundation website.

“There are a lot of blogs and websites with wrong information or a very dark view of CF,” Nasr says.

One of the hallmarks of U-M’s CF program — the largest in the state — is the close collaboration between the pediatric clinic and adult clinic, where Schaller receives care.

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Around age 18 to 21, patients transfer from the pediatric team to the adult team. Nasr and Richard Simon, M.D., medical director of the Adult Cystic Fibrosis Center and professor in pulmonary and critical care medicine, have worked hard to ensure this process runs smoothly for patients and their families.

“Because I trust the adult team, I can make sure the patients are not apprehensive,” Nasr says. “The adult clinic is very involved early on, and that’s important for patients.”

Newer therapies and new hope

Beyond her healthy lifestyle, Schaller has benefited from participating in clinical trials sponsored by U-M on a new class of drugs called modulators, designed to help the mutated CF protein work the way it’s supposed to.

“These drugs are small molecules that bind to the abnormal protein and make it perform more normally,” Simon explains. Because of Schaller’s particular CF gene mutation, she has responded well to the first version of the drug, called ivacaftor.

However, a newer version of the treatment that combines three modulating drugs holds enormous promise for the majority of people with CF. This treatment is in late clinical trials.

“Early results from the trials show that the triple combination is very effective. If the studies show that the treatment is also safe, leading to approval by the U.S. Food and Drug Administration, the triple-combination drug will help 90 percent of people with CF,” Simon says.

All of this research and preventive care has resulted in a better quality of life and extended life spans for people with CF. “Since 2002, the average life span of a person with CF has improved from 33 to 44 years old. We have patients in their 60s and 70s, which would have been unheard of decades ago,” Simon says.

Schaller echoes his enthusiasm.

“Kids treated today could potentially live a semi-normal life with even fewer treatments than I’m taking today,” she says. “I think CF will be the best story in history — in the next decade, we’ll be talking about CF as something in the past.”