This is one in an occasional series about children’s health issues. We know that many of our readers are grandparents keenly interested in the health and well-being of grandchildren. We hope this series will provide readers useful health information you can share with your family.
There is only one drug in the world that works by counteracting the genetic defect that causes cystic fibrosis, rather than just treating its symptoms. But there may soon be a second, with an even more powerful impact.
Dr. Diego Maldonado, a pulmonary disease specialist in Vero Beach, says, “Having therapies that target genetics and restore function is the beginning of a new era in the treatment of cystic fibrosis.”
In May of this year, an advisory committee to the Food and Drug Administration (FDA) voted 12-1 that the drug, manufactured by Vertex Pharmaceuticals, was safe and effective enough to be approved. The FDA is expected to decide on approval in early July.
Cystic fibrosis (CF) is an inherited, life-threatening disorder that severely damages the lungs and digestive system. It is caused by a genetic defect which disrupts the movement of salt in and out of cells. Mucus, sweat, and digestive juices that are normally thin and slippery – like a lubricant – become thick and sticky, and plug up tubes, ducts, and passageways.
The respiratory signs and symptoms, as described by the Mayo Clinic:
• A persistent cough that produces thick spit and mucus
• Wheezing
• Breathlessness
• A decreased ability to exercise
• Repeated lung infections
• Inflamed nasal passages or a stuffy nose
There are also digestive problems caused by the thick mucus blocking the tubes that carry enzymes from the pancreas to the small intestine. “This is a disease that can affect glands in every part of the body, and potentially involve all organs,” Dr. Maldonado says.
Two-thirds of those with CF are diagnosed by their first birthday. The severity of symptoms varies, even in the same individual – they can worsen or improve in cycles over the person’s lifetime.
Cystic fibrosis affects about 30,000 people in the United States, and is most common in white people of Northern European ancestry. The disease occurs when a copy of the defective gene is inherited from both parents; if only one copy is passed down, the person will be a carrier.
The first drug to treat the underlying defect of CF is also sold by Vertex. It is called Kalydeco and was approved by the FDA in 2012. Its effectiveness is limited by the fact that it is only applicable to about 7 percent of cystic fibrosis sufferers. Vertex’s new drug, which they plan to call Orkambi, is intended to treat patients who have copies of the most common mutation, called F508del.
Orkambi’s initial approval would be for patients who are at least 12 years old – approximately 30 percent of sufferers. Vertex is currently testing the drug in younger children.
Even prior to the introduction of this new type of drug, the life expectancy of those with CF has increased dramatically in recent decades, due to improvements in screening and treatment. In the 1970s, most children with the disease died before reaching their teens. For Americans living with the disease today, the median life expectancy is about 37, and is expected to be even higher for those born in the 1990s, 2000s, and beyond.
Dr. Maldonado believes that the primary reason for the greater longevity is the screening of newborns for cystic fibrosis. By 2011, all 50 states had adopted newborn screening protocols, consisting of a simple blood test. Most babies who have a positive (abnormal) result do not have cystic fibrosis; a diagnostic test called a “sweat test” is conducted to find out. “Early diagnosis extends life expectancy,” Dr. Maldonado says. This is because early detection allows for more timely treatment, which helps minimize damage to the lungs and digestive system.
Since there is no cure for cystic fibrosis yet, treatment is focused on easing symptoms and reducing complications; treatment goals, again as described by the Mayo Clinic, include:
• Preventing and controlling lung infections
• Loosening and removing mucus from the lungs
• Preventing and treating intestinal blockage
• Providing adequate nutrition
There are a number of medication options, including antibiotics to both prevent and treat lung infections. Dr. Maldonado says that in the past 10 years, new antibiotics have been developed which are better at preventing infections; some of these are inhaled rather than taken in pill form.
There are also mucus-thinning drugs which allow for the coughing up of mucus, improving lung function; bronchodilators to keep airways open; and pancreatic enzymes, taken orally, which help the digestive tract absorb nutrients.
Chest physical therapy is a process that can be done with or without the help of mechanical devices; the purpose is to loosen the mucus to make it easier to cough up. Treatments are typically given by the parent or another caregiver one to four times each day; they consist of clapping on the chest wall (percussion) and creating a shaking motion (vibration). These techniques help move the mucus from the lungs into the larger airways and facilitate coughing.
There are surgical options that parents should discuss with their child’s doctor; they include fairly minor procedures such as the removal of nasal polyps to help the breathing flow, and the suctioning of mucus from obstructed airways.
Replacement of both lungs is an extreme option for the most serious situations; it is controversial, as it’s been associated with many complications, and may not prolong or enhance the quality of life. Dr. Maldonado says, “Lung transplantation is the most imperfect organ transplantation. Young patients with strong hearts can do well with a transplant, but because lungs are exposed to the environment through breathing, there is a high risk of infection and rejection.”
Recent research indicates that parents of children with CF may struggle to find a balance between letting their child take some responsibility for the management of their condition, and letting go of too much too soon.
Suzanne Bennett Johnson, PhD, a Florida State University School of Medicine professor, says, “We do have some parents who stymie the child by exerting too much control, but there’s a clinician’s fallacy about the over-involved parent.” What is needed, Johnson says, is ongoing conversation between parents and the child’s healthcare providers to set realistic expectations of the child’s ability to self-manage their condition.
For any chronic condition, adherence with the prescribed treatment declines around adolescence. This is often because of the parents’ well-intentioned belief that the child is capable of monitoring themselves; parents may also back-off due to the “Stop bugging me” complaints of the child. Avani Modi, PhD, assistant professor of pediatrics at Cincinnati Children’s Hospital Medical Center, says, “That may not be developmentally appropriate. With a disease like CF, an hour a day of medication and therapy takes them away from their social activities, from their friends, from their clubs. It’s not malicious, but they forget to keep up and the consequences can be serious.”
Parental involvement does not mean that the parent has to set up the treatment. Studies have shown that a parent simply being with the child during CF treatments raises the level of adherence. Modi uses a learning-to-drive analogy. “There needs to be a learner’s permit,” she says. “At some point, you let go, but there needs to a bridge to the child managing his or her medication. We work with parents on that so by the time the child is 17 or 18, they can relinquish control.”
Dr. Maldonado emphasizes that cystic fibrosis is best treated by a medical team – in addition to a pulmonologist, active involvement is needed by the child’s primary care physician, and specialists like Ear, Nose, and Throat doctors (ENTs). A consultation with a nutritionist can also be of great value, as a balanced diet, perhaps along with vitamin supplements (particularly A, D, and K) is critical to maintain organ health and keep muscles strong.
Longer life expectancy is very good news indeed, and young people with CF experience all that their peers do: exploring their expanded world as they enter grade school, the challenges of puberty and adolescence, playing sports if they are so inclined, graduating from high school, deciding what major to choose in college, finding a career path, falling in love, marrying, and having children of their own.
Dr. Maldonado’s office is located at 1155 35th Lane in Vero Beach; his office phone is 772-794-5800.