Genetic disorders can be a source of worry for parents, but with the help of educated nurses and doctors, they can be managed. From Down Syndrome to Thalassemia and Cystic Fibrosis, there are a variety of genetic disorders that can affect individuals. In this article, we'll explore 10 of the most common genetic disorders and how they can be managed. Tay-Sachs disease, Down syndrome (trisomy 2), Fragilex syndrome, Klinefelter syndrome, triple X syndrome, Turner syndrome, trisomy 18, trisomy 13 are all genetic disorders that can affect individuals.
Down syndrome occurs when chromosome 21 is copied once more in all or some cells. Nurse practitioners and doctors often perform detailed prenatal screening tests, such as blood tests, which detect amounts of chromosomal material and other substances in the mother's blood. These types of tests can determine, with great precision, if a child will be born with Down syndrome or not. When a person is diagnosed with Down syndrome, they are likely to have varying levels of mild to severe cognitive delays.
Other markers of Down syndrome include a greater predisposition to congenital heart defects, lower muscle tone, shorter physical height, and an upward tilt of the eyes. According to the Centers for Disease Control and Prevention (CDC), approximately one out of every 700 babies born in the U. S. will have Down syndrome.
In addition, the older the mother is at the time of birth, the more likely the child is to have Down syndrome. Thalassemia is a family of inherited genetic conditions that limit the amount of hemoglobin a person can produce naturally. This condition inhibits the flow of oxygen throughout the body. There is a 25 percent chance that children who inherit the thalassemia gene from both parents will be born with thalassemia.
People who are especially likely to carry the defective gene responsible for thalassemia are people of Southeast Asia, India, China, the Middle East, the Mediterranean and North Africa. Any form of thalassemia is often accompanied by severe anemia, which may require specialized care such as periodic blood transfusions and chelation therapy. Cystic fibrosis is a chronic genetic condition that causes patients to produce thick, sticky mucus which inhibits their respiratory, digestive and reproductive systems. Like thalassemia, the disease is commonly inherited at a rate of 25 percent when both parents have the cystic fibrosis gene. In the United States there are close to 30,000 people living with cystic fibrosis and often develop major health problems.
For example 95 percent of male patients with cystic fibrosis are sterile and the median age of survival for all patients is 33.4 years. Educated nurse practitioners can extend the survival time of a typical patient by offering effective care strategies that include physical therapy as well as dietary and medical supplements. With new knowledge in detection, prevention and treatment of genetic disorders nurses with advanced degrees can play a key role in helping parents, children adults who suffer from them and society in general. Giving birth to a child with a genetic condition can be concerning for parents but effective ongoing care by trained nursing professionals can significantly alleviate the impact. Sickle cell anemia is a lifelong genetic condition that can be inherited when both parents transmit the sickle cell trait to their children. In addition researchers studying the brain have found overwhelming evidence that a person's genetic factors and experiences guide and support brain development. Genetic disorders can result from genetic abnormalities such as genetic mutations or additional chromosomes. The genetic condition known as Tay-Sachs is affected by approximately one in 27 Jews and approximately one in 250 members of the general population.
However modern medicine has created methods for identifying the possible health outcomes of genetic disorders as demonstrated by medical research conducted by educated nurses and practicing doctors with advanced degrees. Although the gene that causes the disease is common it is the occurrence of an abnormality in the parents that causes the disability to develop in the child. The genetic abnormality can range from lower-case to larger from a discrete mutation in a single DNA base of a single gene to a serious chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Genetic disorders can be managed with help from educated nurses and doctors who understand how to diagnose them accurately and provide effective treatments for those affected by them. With new knowledge in detection prevention and treatment nurses with advanced degrees can play an important role in helping those affected by these conditions.
