Cystic fibrosis (CF) is an autosomal recessive genetic disorder that affects the lungs, pancreas, liver, intestine, and reproductive organs. The disease is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is related to the abnormal transport of chloride and sodium across the cell membrane. While in healthy people mucus is a watery and slippery substance that keeps the organs moist, in patients with cystic fibrosis, it is thick and sticky.
In CF patients, an excessive production of thick mucus accumulates in the lungs and airways causing difficulties in breathing and a higher propensity to bacterial infections. Cystic fibrosis is among the most common lung diseases in children. It is a life-threatening disorder for which there is currently no cure.
There are numerous aspects of living with cystic fibrosis but seeking medical care, information, and support may help patients improve their quality of life, life expectancy, and emotional wellness.
Beginning Life with Cystic Fibrosis: The Diagnosis
There are about 33,000 cystic fibrosis patients in the United States and 70,000 worldwide, according to the Cystic Fibrosis Foundation (CFF). About 1,000 new cases are diagnosed every year, but more than 75 percent of them are in children younger than 2 years old. Due to the wide dissemination of newborn screening programs, more CF patients are being diagnosed at a younger age.
However, this test is only an indication and if there is evidence that a baby may suffer from the disease they are usually advised to have a sweat test, which is a more accurate diagnosis. It seeks high levels of salt in patients’ sweat, a sign of the disease. A family does not usually expect a CF diagnosis when a baby is born and their physicians may not be specialized in the field. However, there are CF-certified centers throughout the country that can help parents better understand the disease and begin lifestyle alterations and treatments.
In addition to newborn screening and sweat tests, other tests that may be conducted at any age include a blood test to identify differences in the CFTR gene: pulmonary function tests to measure the amount of air exhaled and its velocity, chest X-rays to show mucus density in the airways, fecal fat test to measure the amount of fat in the stool and determine fat absorption, pancreatic test to evaluate the presence of the enzyme fecal pancreatic elastase and pancreatic function, secretin stimulation test to check how the pancreas responds to the hormone secretin, trypsin/chymotrypsin test to measure the amount of trypsin or chymotrypsin in fecal matter, and upper gastrointestinal and small bowel series to see if there are any structural or functional abnormalities in these organs.
Growing Up with Cystic Fibrosis: School and More
While the diagnosis of cystic fibrosis is often confirmed while the patient is still a child, the onset of the symptoms becomes progressively more apparent over time. The symptoms of cystic fibrosis vary among patients but from an early age it tends to include salty-tasting skin secretions, an inability to gain weight, slow growth and some bowel symptoms. Bowel symptoms include diarrhea; severe constipation creating a stomach ache, bloating, and gas; nausea, appetite loss, and foul smelling stools. Respiratory symptoms include coughing, nasal congestion (nasal polyps), pneumonia, shortness of breath, fever, and phlegm.
There are no reasons to keep children with cystic fibrosis from attending school like any other child. However, patients may face additional challenges related to feeding, treatments, and regular procedures. Persistent infections may require time in the hospital. Because patients may need to skip school on some occasions, some parents prefer to home-school their children. The onset of puberty and menstruation can be delayed a few years. Additionally, children with CF tend to be smaller and thinner than other children and the feeling of being different, based on body image stereotypes, may be stressful. It is also important for caregivers to pay attention to patients who might neglect their treatments as a way of not feeling as different as their peers.
Transitioning from Childhood to Adulthood with Cystic Fibrosis
Currently, nearly half of all patients with cystic fibrosis are older than 18 but transitioning from childhood and adolescence to adulthood may not be easy. Adolescence is itself a complicated time with numerous transitions. In the case of CF patients, all these changes need to be balanced with symptoms, treatments, studies, work, family, emotions, and social life.
Studies like “The psychosocial and psychiatric side of cystic fibrosis in adolescents and adults” demonstrate that the psychological and psychosocial functioning of people with cystic fibrosis is similar to that of well people — until the disease becomes severe.
However, there is also evidence that patients do suffer an increased likelihood of psychiatric problems, such as depression, and of scoring poorly on physical functioning measures of quality of life. The rise in symptoms is accompanied by the transition toward taking care of their own treatments.
Patients often face barriers and challenges that may lead to anxiety which is among the most common emotional issue experienced by CF patients, or even depression, a state of sadness that can last for weeks, months or years, accompanied by feelings of hopelessness and lack of interest in everyday things.
Daily Life with Cystic Fibrosis: Treatments
Despite the fact that there is currently no cure for cystic fibrosis, there are treatments that improve patients’ quality of life and life expectancy. In fact, children with CF tend to remain healthy when medicated until adulthood, but as lung function declines, the patient often becomes disabled. Different therapies address the diverse symptoms, and not all patients need all types of medication, but the common feature remains that all patients need daily and demanding treatments.
Advancements made in recent years have lead to an increase in patients’ life expectancy from 10 years to 37.5 years, on average. Some live to be much older.
Lung therapies include antibiotics for prevention and treatment of lung and sinus infections like inhalers, DNAse enzyme therapy, breathing in mists of high salt concentrations, flu and bacterial vaccines, oxygen therapy, percussion vests, and in some cases lung transplant.
Bowel therapies are also important to increase the absorption of nutrients. Patients often rely on pancreatic enzymes to aid in digestion and absorption of fats and proteins; vitamin supplements like A, D, E and K; and anti-constipation drugs.
Daily Life with Cystic Fibrosis: Nutrition and Exercise
Medication and therapies are not the only way to keep CF patients healthy. Lifestyle is also important. The main lifestyle recommendations from the National Institutes of Health (NIH) include: not smoking and avoiding tobacco smoke, washing hands often to lower risk of infection, exercising regularly and drinking lots of fluids, and doing chest physical therapy.
Even though patients may find it difficult to be physically active, it is shown that keeping active shown has benefits like increased exercise tolerance, respiratory muscle endurance and sputum expectoration, reduced residual volume and rate of decline in pulmonary function, improvements in fluid balance and retention of serum electrolytes, and a lower risk of death.
Nutrition can also drastically change patients’ digestive symptoms due to their deficiency in the pancreas and accumulation of sticky mucus in the organ, which compromises the production of enzymes. The lack of enzymes hinders digestion and reduces the absorption of proteins and fats. In addition to taking enzyme, mineral, and vitamin supplements with every meal, patients are advised to eat regularly, make foods with more calories and proteins priority, and follow nutritional guidelines given by a certified dietitian.
Possible Complications of Living with Cystic Fibrosis
As time passes, cystic fibrosis becomes more severe with more intensive symptoms and higher probability of developing related conditions. Respiratory diseases are the most common and include damaged airways (bronchiectasis), chronic infections, growths in the nose (nasal polyps), coughing up blood (hemoptysis), pneumothorax, and respiratory failure.
Complications of the digestive system include nutritional deficiencies, diabetes, blocked bile duct, intestinal obstruction, and distal intestinal obstruction syndrome (DIOS). DIOS is partial or complete obstruction where the small intestine meets the large intestine.
Other complications that might happen are thinning of the bones (osteoporosis) and electrolyte imbalances and dehydration.
While patients with cystic fibrosis do not have any barrier to a normal sex life, the majority of men are infertile and women may have difficulties in conceiving. However, modern fertility treatments may help in this process. In addition to these complications, patients also face challenges in different aspects of their lives like traveling. Cystic fibrosis does not prevent people from traveling, but there are preparations and planning that needs to be done in advance. Patients need to consider potential symptoms, exacerbations, medication for the trip and length of time, immunizations, and specialized care at the location.
Coping with Cystic Fibrosis: How Not to Be Alone
Patients with cystic fibrosis experience physical symptoms and emotional issues. Now, however, there are many ways for patients to cope with these problems. Support groups are the most common methods and can be found in organizations and CF certified centers, which are spread all over the country. By attending sessions of support groups, which exist for both patients and caregivers, people can meet others in the same situation and share experiences.
Getting involved in the activities of organizations like the Cystic Fibrosis Foundation is possible in chapters around the U.S., and can help advocate for the disease, make a positive change, and have feeling of contribution for a cause. In addition, the CFF offers numerous resources regarding different aspects of living with the disease, including guidelines and recommendations on treatments and therapies, insurance, nutrition, exercise, traveling, school for patients and families, individual education plans, college scholarships and financial aid, and other topics.
Note: Cystic Fibrosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.