Working To Lengthen Lifespan Of People With Cystic Fibrosis
Jonathan Zuckerman, MD
Cystic fibrosis is one of the most common genetic disorders in white children in the United States.
MMC has the only Adult CF clinic in Maine that also features comprehensive care for children.
We are involved in the Therapeutics Development Network - a clinical research group of 78 sites nationwide helping to raise the lifespan of kids with CF.
Listen as Dr. Jonathan Zuckerman discusses the latest treatments and symptom management options for adults with Cystic Fibrosis.
Dr. Jonathan Zuckerman (Guest): Well, thank you very much for having me on today. Cystic fibrosis, as you mentioned in the opening segment, is the most common life-shortening disease in the Caucasian population in the United States, and it affects about one in 2,500 live births. Patients with cystic fibrosis tend to develop progressive lung disease and malnutrition if untreated, and that’s the most common cause of death in patients with cystic fibrosis, this advanced lung disease and a condition that looks very much like emphysema or chronic bronchitis.
Melanie: When do you diagnose CF, Dr. Zuckerman? Is it something that you catch as someone as a child and then it leads them into adulthood?
Dr. Zuckerman: Well, that’s a great question. It used to be a diagnosis that was made clinically, oftentimes shortly after birth, but we’re now recognizing that there are milder forms of cystic fibrosis that can escape detection until patients are significantly older, sometimes in adulthood. Maine, along with all the other states in the US, now has a newborn screening, so virtually all CF patients now are picked up at birth with this simple blood test.
Melanie: What are some signs and symptoms if there are lesser versions that are now being spotted in adults? What might be something that they notice?
Dr. Zuckerman: Well, the most frequent symptoms that we see in general in cystic fibrosis include the respiratory and digestive systems. So, patients may have an ongoing cough or feel like they’re frequently having exacerbations of “asthma.” But the ones that are even trickier to pick up are more subtle conditions like male infertility, because cystic fibrosis can affect the reproductive tract, and a failure-to-thrive type presentation where there’s weight loss and indigestion and abdominal cramping. Those are some of the most common clinical presentation.
Melanie: Since this is a genetic disorder, how is it treated? Is there no cure for it so it’s managing the symptoms, managing the lifestyle?
Dr. Zuckerman: Very interesting question, because when this disease was first characterized on a genetic level by Francis Collins and colleagues in the late 1980s, it was considered one of the premiere candidates for gene therapy. Cystic fibrosis is a recessive genetic disease—and not to get too complicated here, it means that if you replace one broken copy of the gene in an affected patient, you can essentially cure the problem. So there was a great deal of enthusiasm that this disease could be treated with gene therapy, and interestingly, we can accomplish this very well in a test tube. It just does not work well in human beings. So, we have great hope for the future for that, but one of the silver linings that we’ve seen in this cloud of being able to achieve gene therapy clinically is that we’ve taken a step back to understand the physiology of this disease, the actual underpinnings of the disease, and we understand that much better now. So we are on the threshold of a range of new medication that will actually treat the fundamental problem in CF, even though we’re not fixing the gene quite yet. We’re very excited about that.
Melanie: That is exciting. So tell us a little bit about living with CF and what you’re doing there at Maine Medical Center for adult patients with it.
Dr. Zuckerman: In the current age, we’re largely controlling the disease rather than curing it. So that takes a lot of effort on a daily basis by patients. What does that translate into? In order to keep the lungs clean, we have to do the equivalent of brushing the teeth but doing it in the lungs on a daily basis. So, patients do airway clearance, which can take more than an hour a day to do those therapies. And then there are the inhaled therapies that help prevent infection in the lungs. It’s in the mucus. That’s kind of the fundamental problem that happens in the CF airway is that the secretions become very thick and difficult to expectorate. So we have medications that the patient has to inhale. And then something that maybe a lot of people wouldn’t appreciate is that nutrition is extremely important for patients with CF. They have a car engine that is running at a high speed, trying to fight infection on a continuous basis. So we need to keep up with their caloric needs, just like an athlete. They need to have extra calories, and they have to take medications to help them digest fatty food. So the care is really a multidisciplinary approach. It’s not just under the guidance of a pulmonologist, but we need nutritionists and physical therapists and respiratory therapists to help us out in the complete, holistic care of this patient.
Melanie: And as you’re giving this complete, holistic care, doing so many things and multidisciplinary approach, tell us a little bit about enzyme replacement therapy.
Dr. Zuckerman: So the enzymes that we’re talking about are derived from the pancreas, which is an organ in the abdomen, and it helps us digest our fatty food. So, before the advent of pancreatic enzymes, patients with cystic fibrosis became malnourished at a very early age. And if you do look at historical pictures of CF patients, they look like concentration camp victims. So the pancreatic enzymes are capsules that are taken before meals, and those capsules, they go through the stomach, into the intestine, and help with absorption of fats and of vitamins that need fat to get properly absorbed. So there are a range of vitamins that need fat for good absorption.
Melanie: So give a little bit of an outlook, Dr. Zuckerman, for what you’re seeing for cystic fibrosis patients at Maine Medical Center and what you’re doing with the adults to make the quality of life the best it can be.
Dr. Zuckerman: Well, when I came to Maine Medical Center from the University of Pennsylvania back in 1999, we had about 20 adult CF patients, and we’re now up to nearly a hundred. So when we look around the country, the ratio of adult/pediatric patient is nearing 50/50. So that’s something we’re all very excited about. But of course, we don’t want to just lengthen the life of these patients. We want to improve the quality of their lives. And we are very proud to report that we have patients who are loving parents, they are out in the workforce or they’re going to college, and so, as a multidisciplinary team, we want to be able to fold in the therapies into a very fulfilling lifestyle. So that’s part of what we really focus on in our visits is making sure that patients have goals that they’re setting and that we work the therapies into as normal a life as possible.
Melanie: And in just the last minute, tell the listeners why they should come to Maine Medical Center and use the adult cystic fibrosis program.
Dr. Zuckerman: Well, we’ve put a lot of effort into building a robust multidisciplinary team that includes a social worker, a physical therapist, a nutritionist, a program coordinator/nurse, and we work very closely with a host of transplant centers around the country so that if things come to that, where the disease is advanced enough, we have all of those connections. We also have a very active research program at Maine Medical Center so patients are encouraged to participate in clinical trials, the development of new therapies that will bring new days for these patients, a bright horizon for a fulfilling life. So that’s what we really think we can offer at Maine Medical Center, great clinical care as well as opportunities for participating in clinical research.
Melanie: Thank you so much, Dr. Jonathan Zuckerman. You’re listening to MMC Radio. For more information, you can go to mainemedicalcenter.org. That’s mainemedicalcenter.org, mmc.org. This is Melanie Cole. Thanks so much for listening.