Helping CF kids become CF adults

Like so many genetic diseases, the cure for cystic fibrosis (CF) is hidden somewhere in the body’s molecular building blocks. Through research and new treatments, those living with CF have more hope – and longer life expectancies – than ever.

Here in New York City, specialists at Beth Israel Medical Center’s Cystic Fibrosis Center have seen great success with clinical trials geared toward developing new treatments.  “In the last few years, a lot of research has been done on the genetics of the disease,” says Maria Berdella, MD, Co-Director of the Center. “With help from clinical trial research done at our center, new oral medications have been designed to try and fix the gene mutation that causes cystic fibrosis.”

Prior to the research breakthrough, inhaled medications were the only option patients had to treat the symptoms of the disease. The goal of the new medications is to change how the disease affects the body. “We’re hoping that if the medications can correct the basic defects in the cell, the disease will not progress into life-ending lung disease,” Dr. Berdella says.

Addressing CF lung health and malnutrition

In order for new treatments to prove successful in the long term, they’ll have to address the two primary complications that affect CF patients as they age: deteriorating lung health and malnutrition. 

Cystic fibrosis causes thick, sticky mucus to build up and block channels in the lungs, sinuses, pancreas and intestines. This makes it easy for bacteria to grow and leads to repeated, serious infections that damage your lungs. It also prevents digestive enzymes made in the pancreas from breaking down and absorbing the food you eat, essentially starving your body.

“Right now, the median life expectancy of someone with cystic fibrosis is 38 years, but we have patients living well past that because of their treatment regimen,” Dr. Berdella says.

Providing more options to treat CF

Since CF is a genetic disease often diagnosed in infants and young children, lifelong treatment is usually necessary. “I tell my patients that CF does not take a break. You have to do your therapy and take your medication every day or you’re going to get sick,” she says. Most patients find the best success using a combination of treatments: 

• Daily antibiotic medication, such as inhalants and new oral drugs, can prevent and control bacterial infections in the lungs, break up mucus and prevent blockages in the intestines.

• Nutritional therapy uses enzyme, multivitamin and mineral supplements to help people with CF absorb nutrients and develop at a normal pace.  

• Chest physical therapy uses a technique called chest clapping, or percussion, to dislodge mucus from the airways so it can be coughed up. The technique should usually be done twice to maintain health and up to four times each day during an illness. Mechanical devices are also helpful and include:

– Inflatable therapy vests that use high-frequency air waves to force the mucus out of the lungs;

– Positive expiratory pressure (PEP) masks that create vibrations to dislodge mucus;

– Flutter devices that people breathe out of to help create vibrations in the lungs.

• Breathing techniques, such as forced expiration or active cycle breathing, use either intervals of forced and relaxed breathing, or deep breathing to open the airways.

Staffed with a multidisciplinary care team, Beth Israel’s Cystic Fibrosis Center is the ideal place for patients to receive diagnosis (done through a sweat test), treatment and follow-up care. “We offer genetic testing and diagnostic services through our in-house lab, clinical trials, nutritional assessments and treatment at our center,” Dr. Berdella says.

You can live well with cystic fibrosis. Learn more about cystic fibrosis treatment options by calling the CF Center at 212-420-4100.