Dear Dr. Gott: In reading your column about the 72-year-old man with ALS, I have some questions. My husband, also 72, was diagnosed with Creutzfeldt-Jakob disease (CJD). The physicians were not positive but indicated he had the earmarks for it. His death certificate lists CJD as the cause. The family anticipated an autopsy after his death, but it was not allowed because the coroners refused to do it due to the seriousness of CJD. Without the autopsy, we are not sure of the actual cause of death.
My husband's symptoms were very similar to the ones discussed in your article. I particularly noticed the statement about a "gene mutation." My husband's doctors mentioned a gene mutation.
He endured many tests. My entire family experienced an emotional roller coaster daily due to physicians indicating medicines would be able to help him lead a somewhat normal life. The disease progressed rapidly, leaving no time to arrange things. He was not allowed to die with any degree of dignity. After his death, it was even worse, due to the seriousness of CJD. No one wanted to be involved.
Dear Reader: Creutzfeldt-Jakob disease is a rare, degenerative brain disorder that is always fatal. In the United States, there are about 200 cases a year. It typically occurs later in life and progresses rapidly. Onset of symptoms usually begins around age 60, with about 90 percent of sufferers passing away within a year.
There are three categories of CJD. The first and rarest is acquired, which is contracted by exposure to brain or nervous-system tissue, usually through certain medical procedures. Since first being described in 1920, less than 1 percent of cases have been acquired.
The next is hereditary, accounting for 5 percent to 10 percent of all cases. This is diagnosed when the sufferer has a family history of CJD and/or tests positive for a genetic mutation associated with the disease.
The final and most common category is sporadic. This variety accounts for at least 85 percent of all cases. It occurs in people who have no known risk factors, genetic mutations or family history for CJD.
Symptoms usually begin as problems with muscular coordination, impaired vision, memory, judgment and thinking, personality changes and rapidly progressive dementia. Many sufferers also experience depression, insomnia or unusual sensations. As it progresses, mental impairment becomes severe.
Symptoms can be similar to those of other progressive neurological disorders, but there are unique changes in brain tissue that can be seen at autopsy.
Write to Dr. Gott, c/o NEA-United Media, 200 Madison Ave., Fourth Floor, New York, N.Y. 10016.
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