Cystic fibrosis breakthrough: Rylee's "magic" pill



BACKGROUND:   Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system.  About 30,000 children and adults in the United States (70,000 internationally) have it.  Sticky, thick mucus is produced because of a defective gene and its protein product. The sticky mucus clogs the lungs and could lead to life-threatening infections.  Also, it obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. More than 70% of patients are diagnosed by the age of two.  Before advances in medical treatment, in the 1950s few children lived to go to elementary school.  The median age of survival is now late 30s. (Source:


SYMPTOMS:  People who have cystic fibrosis can have a mixture of symptoms.  They can include: persistent coughing, salty skin, frequent lung infections, wheezing and shortness of breath, frequent greasy stools, difficulty with bowel movements, and poor growth or weight gain.  (Source:


TREATMENT:  There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications.  Aggressive intervention and close monitoring is always recommended.  Treatments aim to loosening and remove the thick mucus from the lungs, prevent and treat intestinal blockage, prevent and control lung infections, and provide needed nutrition.  Mediations include antibiotics, mucus-thinning drugs, oral pancreatic enzymes (to help the digestive tract absorb nutrients) and bronchodilators.  Chest physical therapy can loosen the mucus.  There are available mechanical devices; such as, the chest clapper, inflatable vest, and breathing devices.  The doctor might recommend pulmonary rehabilitation and can include: nutritional counseling, breathing strategies, exercise training, psychological counseling, and energy conserving techniques.  Also, surgery is another option.  They can include: nasal polyp removal, oxygen therapy, lung transplant, endoscopy, feeding tube, and bowel surgery.  (Source:


NEW TECHNOLOGY:  Kalydeco is a new FDA approved oral medication for treating cystic fibrosis in patients six and older.  This is the first dug that targets the cause of cystic fibrosis, the G551D mutation (a mutated gene and its protein product CFTR).  About four percent of people with cystic fibrosis in the United States have the G551D mutation.  The drug used to be called VX-770 and its generic name is ivacaftor.  The pill is taken twice a day.  The drug helps improve lung function and lower sweat chloride levels.  It can also help patients gain weight.  In people with the G551D mutation, the defective protein moves to the right place at the surface. It acts like a locked gate, preventing the proper flow of fluids and salt in and out of the cell.  Kalydeco unlocks that gate and restores the function of the mutated protein.  Allowing the proper flow of fluids and salt, it helps to thin the mucus.  Kalydeco is now available by prescription for people with the G551D mutation ages six and older.  Vertex began clinical trials in 2012 to see if Kalydeco can be taken by children ages two to five with the G551D mutation, people with mutations other than the G551D, and people with at least one copy of the R117H mutation. For more information on obtaining Kalydeco, contact Vertex at 1-877-752-5933 or  (Source: