Wilson’s Disease
Wilson’s Disease, scientifically known as Hepatolendicular Degeneration, is an inherited dissorder in wich excessive amounts of copper accumalate in the body.
Although Wilson’s Disease begins at birth, symtoms ussually occur between the ages of 6 and 40. Symptoms can be serious such as liver disease, or minor such as drooling and trembling. This paper will explain the following about Wilson’s
Disease: the symptoms and consequences, treatment and diagnosis, and how it is inheritted. As mentioned before the symptoms can be very serious or minor. Liver disease, the most dangerous symptom occurs in about 40% of patients. While nearly all patients show minor symptoms of nuerogical and psychiatric such as treemor, rigidity, drooling, speech slurs, personality changes, inappropriate behavior, detterioration of school work, and a brownish ring in the margin of the cornea.
Wilson’s disease is easily diagnosed, but must be done very early. Both urine and blood tests are taken from the possible patient, along with liver biospies, to examine the possibly contaminated organ. Treatment involves removing the excess copper found in the body, and preventing reaccumalation of copper. Lifelong therapy is needed to keep copper out of the body. Zinc acetate is the newest drug approved by the FDA for the treatment of Wilson’s Disease. Other drugs used for treatment and prevention are penacillamine and trietine. In severe cases liver transplants are needed for patients. Treatment is extremely important in Wilson’s
Disease. Stopping treatment can result in death of a patient in as little as three months. Wilson’s disease is an inherited disease from both parents. It is not sex linked, occuring equally in both males and females. In order for the disease to occur, both parents must carry and affected gene, which then passes on to the affected child. In the end, the child must have two affected genes. If the child only carries one affected gene, heshe is known as a carrier (they can pass on the disease), and will not be ill. The disease affects chromosome 13 in humans, and is known as
ATP7B. Wilson’s Disease genes are affected by spontaneous mutations done to them. Thirty different mutations were so far found among tested patients. The disease is known to be passed on from generation to generation in several cases, yet
The patient might just be waiting for the disease they have caught to kill them, but it does not always go so quickly . ¨Ending a patient's life by injection, with the added solace that it will be quick and painless, is much easier than this constant physical and emotional care¨ (Ezekiel Emanuel, 1997, p. 75). If a patient is terminally ill and will not get better, it allows them to end the suffering. If the physician has to keep a constant eye on the patient and they need constant care and the patient is not getting better, the option is there if they want to end all of it they can. Sometimes dealing with all of the physical care like medications and not being able to live completely normal with a disease is hard. It can get extremely hard and stressful that all the patients can think about doing is ending it, this alternative gives the patient a painless option. According to Somerville (2009), ¨… respect for people's rights to autonomy and self determination means everyone has a right to die at a time of their choosing¨ ( p.4). The patient deserves to choose whether they want to keep fighting or if they cannot go any farther. The patient should not have to push through a fight they have been fighting and know they cannot win. According to Kevorkian ¨the patient decides when it's best to go.¨ Nobody tells the patient when they have to end their lives, they understand their body and know
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
parent to child. There is a fifty percent chance of passing the gene on from
From generation to generation diabetes has continued to claim lives on my mothers side of the family. From recent memory my great grandmother, aunt, and three cousins have had diabetes. Once a trait like diabetes enters your family it is passed down through genetics but it is also not guaranteed that all your family members will get it. You may be asking yourself what exactly diabetes is, what it does to your body and is their a cure? This disease affects us in many ways than one, as I will introduce to you.
There are problems with the title “Terminally ill patient” but there is a way to fix it. We must change the definition for “A Terminally ill patient” to: having an expected life span under 3 months, there is absolutely no way of helping the patient and are doomed to die. But a patient has to suffering from severe pain and be terminally ill to be able to get a physician to assist in their suicide.
...es of developing these diseases. While a family history provides information about the risk of specific health concerns, having a family history of certain medical conditions doesn’t mean that you will develop the same conditions. Disease is not imminent, by developing lifestyle changes your health can be controlled and risk lowered by changing behaviors that increase your chances.
...agnosed at a later stage, most people die within two years of diagnosis and treatment.
I discovered this topic because I was talking with some of my coworkers about the unit three assignment and I asked them if they know of any interesting genetic disorders. I found Tay-Sachs disease to be the most interesting and I never heard of this disorder before this assignment. This topic interest me because it is primarily seen in people of Ashkenazi (eastern and central European) Jewish descent, how it is inherited from one or both parent(s) and the disorder can have a late onset. Parents who child is affected by this disorder, I can only imagine the devastation that they go through with this type of diagnosis and it is heartbreaking.
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. www.ncbi.nlm.nih.gov - http://www.ncbi.nlm.nih.gov/.
In today’s society we all try to prolong life as long as possible. Technology is finding new ways that we can stay healthier and lead productive lives longer. Governor Lamm said “we should be careful in terms of our technological miracles that we don’t impose life on people who, in fact, are suffering beyond our ability to help”(Collins,1991,p.540). That is the real issue at hand; are we in fact over stepping our boundaries by keeping people alive who are maybe beyond our help. “Machines can extend the length but not always the quality of life” (Cloud,2000,p.62). As doctors, they need to think about the well being of the patient and if any methods could really help the situation.
symptoms between the ages of 30 and 50, but has been known to show itself in
Like the world around us the medical field is always changing. It is always pushing forward, trying to understand mysteries of the human body that have boggled researchers for decades. What confuses scientists more, are the organisms or conditions that create these abnormalities that can send the human body into a downward spiral. Disease is something that has affected human civilization since the dawn of time. It can either be chronic or acute, but in either case it has the potential to bring havoc to the human body systems that can lead to devastating consequences. Generally there are two main types of diseases, ones caused by invading pathogens and those which are hereditary. One hereditary disease that can be particularly tragic is cystic fibrosis.
On my mother’s side of the family Type-1 diabetes is prevalent and it isn’t entirely considered an inherited disease, but it has been proven to have some genetic factors that can be passed down. Diabetes is becoming an increasing problem in the United States with half of all Americans becoming either diabetic or pre-diabetic.
“no evidence of any direct relationship between the mutation of sickness and the so-called progress of disease” (Davey et. al., 1995 p237).