A new generation of cystic fibrosis (CF) survivors are living longer and better thanks to improved treatments and understanding of the disease. The Cystic Fibrosis Center at University Health System’s Robert B. Green Campus offers a comprehensive, evidence-based approach to care from diagnosis through adulthood.
Pediatric pulmonary function testing lab at the Robert B. Green Campus of University Health System
Stephanie Hansen was just 3 years old when her parents were given the reason for her persistent cough and digestive problems.
She had cystic fibrosis. And according to her doctor at the time, the long-term prospects weren’t good.
“When I was diagnosed, my parents were told that I wouldn’t graduate high school,” Hansen, now 28, says. “Then, when I graduated, the life expectancy for people with CF had gone up to 30, 35 years old. Now the number is in the 40s. I’ve got a lot of hope that I’m going to be around into my 50s and 60s. Maybe longer.”
Hansen receives care at the Cystic Fibrosis Center at University Health System’s Robert B. Green Campus. She commutes between San Antonio and Houston, where her fiancé lives. She credits the care she’s received, a new fondness for exercise and a sense of optimism for her survival. With some careful planning and accommodations, she even went snowshoeing with friends in Colorado last year, albeit strapped to an oxygen tank.
Cystic fibrosis is a complex, inherited disease that causes a sticky accumulation of mucus in the lungs, pancreas and other organs. It interferes with the absorption of nutrients from food. Repeated lung infections are common.
Donna Beth Willey-Courand, MD, Director of the Cystic Fibrosis Center at University Health System’s Robert B. Green Campus, credits improvements in care, patient education and research for the fact that patients are living longer and more normal lives. Drugs targeting some of the most common genetic mutations that cause the disease are now available.
And for that reason, the center Dr. Willey-Courand leads has evolved from a largely pediatric program to a comprehensive center that offers lifelong care. Children with the disease transition at around age 18 to an adult program focused on the different challenges that adult CF patients face.
Dr. Donna Beth Willey-Courand, Chief of Pediatric Pulmonology at UT Health San Antonio
“Now all these kids with this chronic disease are surviving into adulthood, and we have the only adult cystic fibrosis program in South and West Texas,” says Dr. Willey-Courand, Chief of Pediatric Pulmonology at UT Health San Antonio. “We have longitudinal care and we have coordinated care. For example, CF-related diabetes is common — especially in our adults — but we see it in kids too. And we have an endocrinologist embedded in our CF clinic.”
If transplant is an option, the Cystic Fibrosis Center is linked to the lung transplant program at University Transplant Center, a partnership between University Health System and UT Health San Antonio.
Adults with CF
Holly Keyt, MD, who heads the adult CF program, notes that there now are more adults than children surviving with CF in this country — which represents a major shift.
“We’re making huge leaps and bounds in terms of survival and improvement of quality of life for people with CF,” says Dr. Keyt, a pulmonologist and Assistant Professor in the Department of Medicine at UT Health.
One example? Four babies have been born to her CF patients in recent months. That can require consultation with reproductive endocrinologists for infertility and obstetricians to make sure mother and baby are healthy. Genetic counseling, which includes testing prospective fathers for the genetic mutation, is part of that process.
Another common issue is a form of diabetes that is diagnosed in close to half of adult CF patients. The CF Center has an endocrinologist on staff experienced in CF, Maria Rayas, MD, Clinical Assistant Professor of Pediatrics at UT Health. She helps patients navigate a critical balance.
“Most diabetics can alter their diets to help their blood sugar control,” Dr. Keyt says. But because of difficulty absorbing nutrients, CF patients can be undernourished, raising the risk of infection.
“Our CF patients are always dealing with malnutrition, so we try to get them to gain weight,” Dr. Keyt says. “Our patients who are the most successful treat eating like a job.” Insulin injections are an important tool to maintain that balance.
Addressing the Underlying Cause
The great breakthrough in CF care was the arrival of genetic modifier drugs that address the underlying cause of cystic fibrosis — a defect in the CFTR (cystic fibrosis transmembrane conductance regulator) gene that alters the protein responsible for CF.
Stephanie Hansen, 28, was diagnosed with cystic fibrosis at age 3.
While more than 1,000 different mutations in the CF gene have been identified, they can be grouped into a small number of classes characterized by what effect they have on the CFTR protein. One drug may benefit patients with many different mutations within a single class.
Three CFTR modulators are now on the market and available for a majority of patients. The Cystic Fibrosis Foundation has set a goal of having a modifier available for 95 percent of patients by 2020.
The goal is to start these drugs as early as possible, to maintain lung function and avoid the complications CF can cause.
Patients young and old come from as far as El Paso and Brownsville. And while those long distances can be difficult for families, it’s vital to get the child — and the child’s parents — started on a complex care regimen, one that requires education and dedication.
“When a baby is diagnosed as a newborn, the guidelines are that we see them monthly,” Dr. Willey-Courand says. “And often, if the baby’s not gaining weight, we’re going to bring them back more often. It’s hard. What the majority of families come to realize is the CF Center is their medical home — a one-stop place where you can see a physician, respiratory therapist, social worker, dietitian, nurse and mental health coordinators – all of whom understand the disease.”
The patient’s primary care physician is part of that team. “The primary care provider plays a vital role in CF care,” Dr. Willey-Courand continues. “It’s seeing kids for well checks, growth, nutrition and immunizations. The CF care team is always here to help manage the components of CF disease, but we don’t try to replace the primary care providers.”
As children reach their teens, there’s often a drop in compliance as they become old enough to grasp the seriousness of their condition. Hansen acknowledges that was true for her.
“I realized that my life had a number, I had a life expectancy, and it wasn’t the same as all my peers,” Hansen says. “It made me feel like, what’s the point in trying to take care of myself?”
That period of rebelliousness, as she calls it, led to a decline in her health and repeated hospitalizations. As time passed, however, she came to realize she did have years ahead of her and that she might as well make the best of them.
The CF Center has a staff psychologist who works with patients and families on the many issues they face, including a higher rate of anxiety and depression that occurs in those with chronic diseases.
A New Home
In late 2018, an expanded new Cystic Fibrosis Center will open at University Hospital, bringing together the outpatient and inpatient components of CF care. It will feature eight exam rooms, an infusion room, a pulmonary function testing lab and workspaces for the nurses, social workers, respiratory therapists, psychologist and others who make up the CF team.
An expanded new Cystic Fibrosis Center for adults and children will open later this year at University Hospital.
It will also have dedicated space for clinical trials, which can bring patients to the hospital for hours at a time.
University Transplant Center — also located at University Hospital — works hand-in-hand with the CF program. But Dr. Willey-Courand envisions a time when fewer CF patients — not more — will require a lung transplant.
“Many of these transplant patients are adults who have lived their entire lives with CF that wasn’t treated with one of these new genetic modifiers. When they were kids, we didn’t know what we know about nutrition. We didn’t have all these therapies. So now, the way we treat a 10-year-old is really different than what we did 20 years ago.”
And as part of an academic medical center, the CF program is gearing up to conduct more clinical trials — making more of these promising experimental therapies available to patients.
There’s an excitement about the rate of progress in the research community, Dr. Willey-Courand says, noting that some researchers are trying to figure out how to repair the CF gene itself with the availability and promise of the CRISPR gene-editing tool.
“With CRISPR, we are looking at a potential cure for CF,” Dr. Willey-Courand says. “We might be in a position of diagnosing a baby with CF one day and curing them the next. What an exciting prospect!”
For more information about the Cystic Fibrosis Center at University Health System, call 210-358-KIDS (5437) or visit universitychildrenshealth.com/pediatric-pulmonology.