Cystic fibrosis is a serious disorder that affects the digestive system and lungs. Cystic fibrosis shortly called as CF is inherited disorder producing life threatening damage to many vital organs. Normally our body secretions are thin and slippery but in CF condition this mucus becomes thick and sticky thus blocking the airways of the lungs leading to severe lung infections and respiratory problems. It occurs due to gene mutation of chromosome 7.
Since the disorder is inherited children with CF will have breathing problems in early childhood. The disease also produces excess of sweat that contains too much of salt. CF affects not only lungs but also pancreas, intestine and even the sex organs. Children with cystic fibrosis are more prone to develop diabetes or osteoporosis. Due to the continuous production of thick sticky mucus the lungs are prone to bacterial infection. Further this mucus would block the digestive enzymes making it difficult for the intestine to absorb the digestive juices secreted by pancreas. This results in non-absorption of proteins and fats.
Cystic fibrosis develops commonly in white people, Hispanics, African-Americans and even with Native Americans. Each year more than 1,000 cases of CF are diagnosed in America. However advanced technology of screening has made it possible for people affected with CF to live up to 30 and sometimes even 40 years.
Signs and Symptoms :
Respiratory problems of children affected with cystic fibrosis include shortness of breath, persistent cough with thick sticky mucus, wheezing, frequent lung infections and inflammation of nasal passage. Digestive symptoms of such children include severe constipation, severe gas formation, foul smelling stools, poor growth or weight gain, and frequent intestinal blockage in newborns.
Some children will develop rectal prolapse (part of the rectum will be protruding outside anus) in childhood which is an indication of CF. Boys with CF may develop infertility since they may not have vas deferens for producing sperms. Girl children with this disorder will have great difficulty in getting pregnant. Children are prone to lose more of salt content through sweat causing imbalance of minerals in blood. As a result some of them may develop rapid heart rate, fatigue and decreased blood pressure.
In the children affected with cystic fibrosis respiratory infections are common. They may develop chronic infections, nasal polyps, bloody mucus, pneumothorax and sometimes respiratory failure. Complications in the digestive system include diabetes, nutritional deficiency causing poor weight gain, blocked bile duct and rectal prolapse. In the reproductive system complications like blocked prostate gland causing poor delivery of sperms in men and infertility in women.
Time to visit your Doctor :
If your child has any of the above symptoms or if he/she is not growing properly (not gaining weight) or if the child has frequent cough with thick mucus or if the child has frequent constipation issue with foul smelling stools, you need to check with your doctor without any delay.
Who are at risk?
Since cystic fibrosis is an inherited disorder individuals with family history of CF and individuals belonging to particular race like white people of Northern European origin are at high risk for developing cystic fibrosis.
CF occurs due to gene mutation of chromosome 7. There will be defect in the gene that controls the salt movement in the cells causing more of sticky mucus. Some children are “carriers” of defective gene but they do not have any symptoms. However they will pass the defective gene to the offspring causing this disorder. The root cause of CF is the excess production of sticky mucus that blocks the airways and digestive enzymes.
In the USA and some other European countries newborn screening for CF has become mandatory. Genetic testing of the newborn indicates whether if the child carries faulty genes. The result can be confirmed by doing a sweat test which contains high salt content. Doctors may order for chest X-ray, lung function test and sputum culture for detecting the presence of cystic fibrosis.
No therapy or treatment is available for curing cystic fibrosis. However the intensity of symptoms can be managed by medications. The major aim of treatment is thinning the mucus, preventing frequent lung infections, and adding supplementary nutrition to the affected child. Antibiotics are prescribed for preventing lung infections. Suitable thinning drugs are prescribed for thinning the mucus. For improving the breathing function, bronchodilators are available to relax the muscles around bronchial tubes.
Mechanical devices like chest clapper or inflatable vest are available for loosening the thick sticky mucus in the lungs. This machine is worn around the chest which passes high vibration for thinning the mucus. Breathing exercises and psychological counseling is done for affected person along with nutritional chart. In some cases surgery is done for removing the nasal polyps which will ultimately improve breathing. Endoscopic procedure is useful for clearing the obstruction of mucus from the airways. In severe cases, lung transplantation is done if both the lungs are dangerously affected by CF. For improving absorption of nutrients, feeding tubes are used for delivering the required nutrients through tubing. To manage constipation bowel surgery is done.
Coping Strategies :
It is really challenging to live with cystic fibrosis. The affected children should be in constant touch with the doctors for monitoring the results. An extra shot of vaccination is another option to prevent infectious diseases. With proper medication and improved treatment options, even serious cases of CF can have extended life. It is necessary to educate the child about the disease so that he/she would better know the strategies to live with it. Nutritional deficiency can be managed by supplementing the child/adult with high calorie nutrition. Similarly including extra fiber in daily diet will help to manage constipation.
Drinking lot of fluids can help in thinning the mucus to some extent. Both for adults and children certain lifestyle changes like quitting smoking, washing hands thoroughly and exercising regularly can help to live better. Practicing regular chest exercises and breathing techniques can help to reduce the symptoms. And finally there will be emotional issues like anxiety and depression for every person affected with CF. Get in touch with counselors for getting psychological support and join a support group to share how others feel about this issue.