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Biography of a Wilson's Disease Patient
Hi this is Chris MacEachern and I was in the hospital with Wilson's Disease. I was
in the I.W.K. for 2 weeks during the summer of 1998. While I was in the I.W.K.
I was under the care of Dr. St. Marie. During the first day I got some tests done
and they put me on isolation because they didn't know for sure what I had.
Then the next day my doctor came in and said she was 99.9% sure that I had
Wilson's Disease. So then they had some specialists come and look at me and
then they told me they wanted a MRI done for the next day.
Then the next day before I got my MRI done a doctor came in and did a few
neurological tests. Then when I went to get the MRI done I was in there for about
20 minutes.
The next day I had my usual blood test and had my breakfast. Then after a while
I went to the eye doctor in the hospital. Then my doctor Gail Bateman told me I
should go to the next hospital and get pictures of my eyes.
The next day I went to the hospital to get my pictures done. Then a few days later
or the next day I had a liver biopsy done. After my biopsy I was really cranky and
I did not want to get up and walk. The doctors gave me a thing to get my breath
back but I didn't want to use it. Then for a while there was nothing going on, so
then before the second day of August, before my birthday they let me go home
after being there for about 3 weeks.
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The Genetics of Wilson’s Disease
Wilson’s Disease occurs throughout the world in all races and nationalities. It affects 1 in 30,000 people. It is transmitted as an autosomal recessive disease, which means it is not sex-linked (it occurs equally in men and women). In order to inherit it, both of ones parents must carry a Wilson’s Disease gene which each passes to the disease. The responsible gene is located at B.
Many cases of Wilson's Disease occur due to spontaneous mutations in the gene. A significant number of other cases are simply transmitted from generation to generation.
Most patients have no family history of Wilson's Disease. People with only one abnormal gene are called carriers. They do not become ill and should not be treated.
More than thirty different mutations have been identified thus far. Therefore, it has been difficult to devise a simple genetic screening test for the disease. However, in a particular family, if the precise mutation is identified, a genetic diagnosis is possible. This may help in identifying
symptom-free relatives so that they may be treated before they become ill or handicapped. Someday a genetic test may help in prenatal diagnosis.
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What is Wilson's Disease?
Wilson's disease is an inherited disorder in which excessive amounts of copper
accumulate in the body. This rare disorder affects approximately one in 30,000
individuals. Wilson's disease is inherited as an autosomal recessive trait, which
means that the affected individual must receive the abnormal gene for Wilson's
Disease from both parents. The genetic defect in Wilson's disease results in failure
of the liver to rid the body of copper. The copper then builds up in the liver, the
brain and other organs.
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Wilson's Disease
Wilson's Disease occurs when a person inherits the disease from a family
member. The result is that the body accumulates copper. The accumulation of
copper begins when the carrier is born but the symptoms only appear in the ages
of 6-40. This is a big consequence for 40% of the people with Wilson's disease, is
Liver disease. The other symptoms may be:
1. Tremor.
2. Rigidity.
3. Drooling.
4. Difficulty with speech.
5. Abrupt personality change.
6. Grossly inappropriate behavior and inexceptable deterioration in school work.
7. Finally Neurosis or Psychosis.
Wilson's Disease can be treated with a drug called Penicillamine. For people who
are allergic there are other modems. Without medication Wilson's Disease is fatal,
but if it is treated within the right time they have a really good Prognosis.
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Kayser-Fleischer Rings
Wilson's Disease is a disorder of the bodies chemistry that causes concentrations
of copper to accumulate in the liver and brain. Without treatment Wilson's
Disease is fatal usually before the age of 40. It appears between the ages of 6-40.
Wilson's Disease is made by a simple blood test; a test for ceruloplasmin and an
ophthalmic exam for Kayser-Fleischer rings, which are copper accumulation in the
eye.
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