Cystic fibrosis is a disease affecting many people throughout the United States and the world. Yet, there is so much information out there that it is sometimes difficult to ascertain the most important facts. With this disease, you may have many lingering questions. How does someone get cystic fibrosis? Is it genetic? What about contagious? Are there several different types of the disease. Many factors go into genetics and the epidemiology of disease. Having a better understanding will allow you to see if you are at risk. It may also allow you to plan for the future if you are considering having a family. In this article, we will explore the causes of cystic fibrosis and whether it runs in families.
What Puts You at Risk?
Many questions may arise about cystic fibrosis. Whether it is curiosity or you know someone with the disease, it is perfectly natural to wonder about CF, and if you could be at risk. Is the disease caused by the environment? Genetics? Random luck? So far, research has shown that this disease is hereditary, meaning it is passed down from generation to generation. Cystic fibrosis is found in all racial and ethnic groups but at different rates of occurrence. It is most common for people with northern European descent. It does also occur somewhat frequently with Hispanic heritage. Approximately one in four people with both parents as carriers will develop cystic fibrosis. While this means your parents may be carriers, it does not mean your parents have cystic fibrosis themselves. It is possible for several family members to have cystic fibrosis, but that is not common. Each child of a family with cystic fibrosis gene mutations has a hypothetical chance of receiving the disease.
As for other causes, research has not found a definite cause beyond genetics. There is not much evidence for environmental causes, but it certainly can impact you if you have cystic fibrosis. In fact, inhaled pollutants, exposure to opportunistic microorganisms, adherence to treatment and level of care, stress, and socioeconomic background all affect the severity of the disease. There is also no evidence that the disease is contagious. It is not caused by a virus or bacteria, so it does not pass from person to person. There is nothing airborne or in the water that can predispose you to the disease. If you already have cystic fibrosis, being around another patient could make you sick. That is because they also have a weakened immune system and can expose you to illness. As a result, having a good understanding of genetics increases the understanding of the disease.
What Are Genes?
Genes are made up of DNA. Each gene causes a certain characteristic. Some genes cause physical traits like eye color. Other genes provide traits like personality. Genes provide the body with coded instructions to make proteins. The twenty three chromosomes from DNA impact your life. Each pair is one copy of the chromosome from each parent. You inherit both dominant and recessive genes. Each play a part on developing any condition. As a result genes contain a vast amount of health information. They can also cause diseases. Every cell in our body contains genetic information. Think of this as a complete set of instructions for how the body develops and operates on a daily basis. Unfortunately, like machinery, DNA can have malfunctions. This malfunction is called a mutation. A mutation is an alteration of the DNA sequence. A mutation causes cystic fibrosis because it changes the way your body reacts.
How Genes Cause Cystic Fibrosis
In the case of cystic fibrosis, a gene involving the secretory glands is affected. While we know what gene causes the disease, many mutations could be responsible. A mutation occurs in the DNA of the cystic fibrosis transmembrane conductance regulator gene. All cystic fibrosis patients have a mutation with this gene. The result of the mutation is excessive production of mucus and salty sweat. By adding extra mucus, this gene creates problems with the lungs, pancreas, digestive tract, and sex organs.
Unfortunately, this gene is inherited, so cystic fibrosis is genetic. However, genetics are complicated. Just having the gene mutation does not mean you will automatically get the disease. Genes are inherited from your parents. Each parent provides two genes. To result in cystic fibrosis, one parent will have a normal gene and the other will have a mutated gene. However, the faulty cystic fibrosis gene must be dominant to result in cystic fibrosis. Each parent will then pass down the faulty gene. Many people are carriers and may never know. Since there are so many mutations to the gene, it is very hard to find a cure for cystic fibrosis. Scientists are working on gene therapy and other methods, but no research so far has pinpointed a cure. Lifespan of those with cystic fibrosis has greatly improved over the years. It is likely that as scientists learn what is causing the mutations, that they will be able to block them or repair the DNA.
Prevention and Genetic Counseling
With all the information that provided, you might be wondering if there is a way to prevent cystic fibrosis. Genetic testing is becoming more prevalent to diagnosis a variety of conditions. Newborn screening is the main way that genetic testing diagnoses cystic fibrosis. If a newborn tests positive, typically a sweat test is the next step. Due to the many mutations, sometimes it is challenging to get a conclusive result from genetic testing. In that case, further evaluation from a medical profession is required. A sputum test, chest X ray, CT scan, and other diagnostic tools are used to make a formal diagnosis. If you are recently diagnosed, you may want to have family members evaluated as well. In terms of prevention, the picture is a little bit cloudy. Since there is not yet a cure and the disease is genetic, there is no way to prevent yourself from getting the disorder. There are several ways to keep yourself healthy and prolong your quality of life if you do have the disorder. These include: eating a healthy diet, exercising, avoiding airborne contaminants, using respiratory and digestive therapies. By keeping yourself healthy, you can mitigate the damage done by genetics. Lastly, keeping positive can have a great effect on your mental health. If you are diagnosed, there are many resources out there to keep you feeling positive and address any concerns that you may have.
To conclude, genetics influence getting cystic fibrosis. Therefore, there is occurrences in the family tree if a gene mutation is present. However, due to the way genetics works, it may skip through many generations. There might be two or three members of your family with the disease or none at all. That doesn’t necessarily mean that you are not a carrier, but the gene is not dominant. Even within the gene that causes cystic fibrosis, there are many mutations. This means that no two mutations are the same. Cystic fibrosis patients are affected in many different ways, all due to the varying degrees of the mutations. It is important to do research and keep positive. You can have family members tested to see if they are also at risk. Lastly, new developments in science may mean that a cure or better treatments are plausible.