by Taylor Haydon
According to the Cystic Fibrosis Foundation, cystic fibrosis is a genetic disease. In order to be born with cystic fibrosis, a baby must inherit a copy of the CF (cystic fibrosis) gene from each parent. When both parents are carriers of this defective gene, even if they do not actually have the disease themselves, the child is put at risk. As illustrated in the charts below, the offspring would have a 25% chance of getting cystic fibrosis, a 50% chance of just being a carrier, and a 25% chance of neither inheriting the disease or becoming a carrier. Cystic fibrosis is illustrated as the third chromosome in the chart below.
As explained by the National Heart, Lung, and Blood Institute, signs of cystic fibrosis can appear in anywhere from a few to an alarming amount. The earliest symptoms of this disease include noticing a salty taste after kissing the baby, or the baby not passing stool for the next few days following his/her birth. Although these symptoms are the first ones a parent is able to recognize, many more occur later. These symptoms can be divided up based on the system they affect, including the respiratory, digestive, and reproductive systems.
One of the most common signs of CF is the buildup of thick mucous in the airways, that is oftentimes coughed up with traces of blood. This bacteria buildup also leads to a variety of chronic infections and diseases, such as sinusitis, bronchitis, and pneumonia. These diseases working together have the potential to destroy the lungs and lead to even worse, such as pneumothorax, where air leaks out of the lungs, and bronchiectasis, where the airways become flappy and scarred. Lung infections specifically caused by mucoid Pseudomonas rarely occur in those outside of the disease, so they are another potential warning. Lastly, nasal growths known as nasal polyps are another sign, and require surgery.
The buildup of mucous additionally prohibits essential enzymes from reaching intestines. Because of this, fats and proteins are kept from fully being absorbed. Diarrhea and thick, greasy stools are a sign of this. Intestinal blockage is common, specifically in newborns. A combination of gas and constipation lead to severe stomachaches. When it comes to children, one of the most obvious signs of CF is little weight gain and growth, as a result of not being able to absorb the fats and proteins. Other problems that may occur due to CF include pancreatitis, rectal prolapse, liver disease, diabetes, and gallstones.
Men with CF are infertile, because they lack vans deferens. Sperm is not able to be delivered to the penis. Women, while not completely infertile, may struggle to get pregnant because of mucous blocking the cervix.
As mentioned earlier, salty skin and sweat are more infamous symptoms of CF. Dehydration, increased heart rate, fatigue, weakness, decreased blood pressure, and heat stroke come as a result of this loss of salt. CF also may lead to both clubbing (widening and rounding of fingers and toes) and low bone density, because lungs fail to transport a proper amount of oxygen into the bloodstream. Low bone density also tends to cause osteoporosis and osteopenia later in life.
Before two individuals ever decide to have a baby together, there is a genetic carrier test avaliable. Over ten million Americans are symptomless carriers of the defective CF gene, and this test helps detect them. After a baby is actually born, it is screened, a practice performed in all fifty states. While it neither definitely confirms or rules out CF, it may lead to tests that can. Benefits of newborn screening include less hospital stays, improved growth and lungs, and a longer life. The sweat test is another test, known to be the most informative. Painless and easy, it measures the concentration of salt in one’s sweat by rubbing the skin with a sweat-inducing chemical. A high salt level signals cystic fibrosis.
According to the American Lung Association, CF is the second most common life-shortening, genetic disorder in children in the United States. About 30,000 Americans have cystic fibrosis, with an estimated one-thousand new cases diagnosed a year. Although it is diagnosed equally in both males and females, it is most prevalent among Caucasians of Northern European descent.
Life Expectancy and Treatments
With the help of new technology, life expectancies of those living with cystic fibrosis have increased significantly since the 1950's. According to the American Lung Association, in 1950, the average patient did not even make it to attend elementary school. However, by 1985, the median age rose to 25. As of 2008, people diagnosed live to be an average of 37.4 years, a number that will only continue to rise. There is no cure for cystic fibrosis, only treatments. The National Heart, Lung, and Blood Institute's recommendations include a combination of airway clearance techniques and medications to rid the lungs of mucous, prevent infections, and keep the patient on a proper diet. Chest physical therapy involves the pounding of the chest in order to free the chest of mucous. Aerobic exercise is also recommended to make patients breathe harder in order to rid the system of mucous. However, this leads to sweating, which leads to an excessive amount of salt loss. Because of this, doctors usually prescribe salt supplements to maintain a balance of minerals. Nutritional therapy is also recommended to those with digestive issues, improving strength and ability to stay active. Treatments are prescribed based on the most prevalent issues in patients' health.
Clinical trials run by the Cystic Fibrosis Foundation are in progress to increase understanding of the disease. Those affected are able to volunteer their information to help find a cure. Those living with CF must not smoke, avoid tobacco smoke, wash their hands regularly to lower the risk of infection, exercise regularly, drink lots of fluid, and do chest physical therapy regularly. Emotional issues may also surface as a result of the strains of this disease, including fear, anxiety, and stress. Although there were no tests to prove it in his time, some speculate Albert Einstein may have had cystic fibrosis. Late British singer Alice Katherine Martineau had cystic fibrosis. She enjoyed singing from a young age, but never thought she could pursue it due to her poor health. However, she found that singing actually strengthened her diaphragm and made her a better singer as a result.