preview

Noonan Syndrome Research Paper

Decent Essays

Imagine yourself walking into a grocery store, and having all eyes stare at you in shock. As you continue to walk, they can’t help themselves but stare even more. Most people won’t even get near you; they are scared as if you could hurt them in any way. Believe it or not there are people who have no choice but to deal with situation everyday. What they have is a genetic disorder called Noonan Syndrome, and they do not choose to have this. Noonan Syndrome is an autosomal dominant disorder, which is inherited by the mutation from one affected parent. So it is not like someone choses to have this disorder, it just gets passed down to them. Since this disorder is caused by a mutation in the genes, there are some other cases that result from …show more content…

They usually have pale blue or blue green irises, sometimes they even have problems hearing and seeing. Can you picture yourself dealing with all these sorts of problems? It would be devastating. How are doctors able to diagnosis Noonan Syndrome? It is based on the person’s clinical symptoms and signs. There are 55 clinical tests that are available, what these tests do is check the sequence analysis of the entire coding region, which means they check if there is any possible mutation in the genes. One of these tests is called PTPN11 Gene Sequencing, what this test is intended for is to diagnosis Noonan syndrome, and to confirm that a mutation accrued. These tests are mainly done when there are parents that have been affected with this disorder, and are afraid to pass it down to their …show more content…

You married someone who doesn’t have the disease, but they are recessive. Would you still have children? The possibility of your children getting this disease is a 50-50 chance. It brings a lot of thought to your mind right? The disease I am talking about is Huntington’s disease. This disease causes, clumping in the brain and causes the death of nearby nerve cells. A brain area responsible for coordinating movement, and of the cortex, which controls thought, perception and memory, are most often affected. In my opinion I would choose not to have children, even if there is only a 50-50 chance. I would not be able to live with myself knowing that I passed down a deadly disease to my children. I rather not have children of my own; there would still be more options for me to choose from. I could adopt children, I won’t have my own children but I’ll still be a mom to others that are in need of

Get Access