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
Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous.
Huntington’s disease is a disease with symptoms that appear between the ages of 30 and 50. Symptoms include: the incapability to walk, difficulty in swallowing, contractions of the face, paranoia, and changes in personality to name a few. The disease can last up to 15 years, and it ultimately causes death. Purdy stated that this disease can be thought to be equal to any other impactful genetic disorder or disease. With that being said, Purdy declared that a disease like Huntington’s demonstrates why it is immoral for a mother to conceive when she knows that her child will later be prone to an early death or debilitating symptoms. Purdy states that parents that are risk for Huntington’s disease and other genetic diseases and disorders have a moral responsibility to not have children that will be affected with genetic diseases or disorders. Purdy again refers to the medical advancements that are present that will detect genetic diseases, defects, or disorders. Ultimately, Purdy believes that with the medical advancements that detect genetic diseases, parents should not have children that will be prone to genetic
This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.
This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.
One of my cousins suffers from Noonan syndrome, a disorder that affects many areas of his body. There are many manifestations of this genetic disorder. My cousin suffers from unusual facial characteristics, short stature, and skeletal malformations, to list just a few. He has gone through multiple surgeries and faces a lot of daily challenges, including learning difficulties at school. He is never going to be cured of this disorder. He will live to a normal life expectancy barring any extraordinary medical occurrence. Although many of his problems can be medically dealt with so that the disruption to his daily life is minimal, he can never be as tall as the other kids, or look normal, or learn as they do. He is always going to be just “a lot”
This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.
Many people who have married each other find out many months later that the one that they are with just was not the one who they will love forever and be with forever. If they had chosen to have a child then the child will have to deal with parents who are trying to find a new couple and may even do it all over again. Also disease is not a joke that goes away over a wish people are born with genetic diseases that will transfer over to their child. My opinion of remaining childfree goes along with the author Kelly W. Who has strong evidence towards the thought of remaining childfree by
Noonan Syndrome is a dominant gene pattern. This means that you only have one copy of an alternate gene. If you are diagnosed with Noonan Syndrome you have a 50% chance of giving it to your children. Noonan Syndrome has many different symptoms, not everyone is going to have these different signs and symptoms. Symptoms consist
In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other
Noonan syndrome is an autosomal dominant genetic disease that affects facial characteristics, heart, skeletal formation, stature, and may other areas of the body. Approximately 1 in 1,000 to 2,500 people are affected by Noonan syndrome. Those affected by this disease have deep grooves around their mouth and nose area, low ears, and wide eyes. Other distinct features of Noonan Syndrome include shorter necks, excess skin around the neck, and low hairlines. A common heart defect associated with this disease is the narrowing of the value that controls blood flow from the heart to the lungs. Although an individual may be affected by this syndrome, most still have a normal intelligence. A mutation occurs on the PTPN11, SOS1, RAF1, KRAS, NRAS,
Not only do clinicians need to work with other professionals, but they also need to be aware of the other comorbidities that may be present in Noonan Syndrome. Many studies listed other cognitive functions that may be impacted by NS, and depending on the nature of the function, it could have a negative impact on language and speech. “Identification of attention problems and other psychiatric comorbidities will be an important element in developing appropriate educational and treatment goals to benefit individuals with Noonan syndrome” (Pierpont et al., 2014, p.391). Since some links have been made between Noonan Syndrome and delays in attention skills, it is important to keep in mind these associated risks and their implication on language
The first diagnosis of Noonan syndrome was in 1883 by means of Kobylinski. The patient was a 20-year old man with a neck that was webbed; webbing is one of the main symptoms of Noonan syndrome. In 1902 Funke saw a patient with a webbed neck and also micrognathia (undersized jaw), cubitus valgus (elbow deformity), short stature, and also other abnormalities. Another case by means of Ullrich decades later in 1930 of a young girl who had similar deformailites. In 1994 Noonan syndrome was gene mapped to the long arm (q arm) on chromosome 12. It was given the same NS1. Tartaglia found a mutation was found in the protein tyrosine phosphatase (PTPN11) in 2001; the first molecular cause of Noonan syndrome. It’s found that the PTPN11 mutation will cause
Trisomy 13 otherwise known as Patau syndrome is a genetic disorder that affects 1 out of 5,000 newborns. This disease occurs when a person's 13th chromosome appears three times instead of the usual twice. Someone with Patau syndrome often have facial abnormalities, heart defects, very small or poorly developed eyes, brain or spinal cord defects, extra fingers and/or toes, cleft lips and/or palates, and weak muscle. To lower the chances of having a child with Patau syndrome one should get a (NIPT) test. A (NIPT) test is a prenatal test analysing the DNA fragments from the maternal plasma during a pregnancy. Also magnetic resonance imaging (MRI) or computerized axial tomography (CT) scans and chromosome studies can show if a person has Patau
Imagine seeing everything in blue? In November 2015 I was officially diagnosed with Meares-Irlen Syndrome. I was prescribed blue/turquoise tinted glasses and for everything to be printed on blue paper. This has had a large impact on my life as I struggle to read anything that is not in blue unless I want to strain my eyes, and obviously, everything is not going to be printed on blue paper. This has impacted my life for the worse as through confidence issues I find it difficult to ask people to print my work in blue for me.
Imagine living in a world where you are seen as crazy and dangerous because of parts of your personality that you cannot change. People who know you are constantly afraid because you’re too fragile, too sensitive, too frightening. All just because you were born with an illness.