Cystic fibrosis is an inherited illness that causes severe damage to various parts of the body, especially lungs and the digestive system. The disease affects the cells producing mucus, sweat, and the digestive juices. In normal persons, these secretions are thin and slippery; however, in persons with a defective gene, they become thick and sticky and do not allow the normal functioning of organs like lungs and pancreas. While patients require daily care, they can still go about their lives normally and with proper treatment enjoy a lifespan better than before.
Depending on how severe the disease is, different persons exhibit different symptoms, and some people may not even display any of the typical symptoms like a persistent cough with thick sputum, breathlessness, wheezing, repeated infections of the lungs, inflamed nasal passages, impaired digestion, recurring incidences of pancreatitis pneumonia, and infertility. The disease is also symptomized by greasy and foul-smelling stools, severe constipation, and impaired growth. Usually, persons suffering from cystic fibrosis have a very high salt content in their sweat, which is noticeable even in small babies. The cause of the disease is a mutation of a gene that changes a protein regulating the salt movement in and out of the cells. The gene has to be inherited from both the parents for the child to have the disease; else it will merely be a carrier with the possibility of passing it on to the next generation.
Diagnosis and Prevention
Confirmation of cystic fibrosis is done through a method of DNA sequencing that determines the precise order of adenine, guanine, cytosine, and thymine, the four nucleotide bases that make up a strand of DNA. The bases provide information regarding the genotype that determines the behavior and development of the cell. The test determines the nucleotide base sequence of the cells of a blood sample drawn from the suspected patient, which is then compared to the specific nucleotide base sequence that each and every organism has to determine if there is an aberration indicative of cystic fibrosis. DNA sequencing requires sophisticated lab equipment and enzymes and chemicals sourced from reliable suppliers like https://www.mybiosource.com/.
If you or your partner has any knowledge of cystic fibrosis having afflicted anyone in your families, you should preferably undergo genetic testing before you plan to start a family. If the pregnancy has already occurred, the genetic testing and confirmation of the risk of cystic fibrosis will allow the doctor to perform additional testing on the child. Since the results of the test may have a deep psychological impact, it might be better for the parents to seek the advice of a genetic counselor before actually going ahead with the testing.
Since cystic fibrosis has severe repercussions on the long-term health of individuals, it is very important for every couple to get themselves tested before having a child. Screening of newborns is already a standard practice in virtually all states in America; a result of which, the diagnosis can be done very early, even before any of the symptoms actually manifest themselves.