By: Lexi, Shelby, and Tori
Charlotte Raven: Should I Take My Own Life?
In 2006, 18 months after the birth of my baby, I tested positive for Huntington's disease. The nurse who delivered the news hugged me consolingly and left me with my husband and a mug of sweet tea to cry. In the days that followed, I began to realise why so few of the people at risk of inheriting this incurable neurodegenerative disorder chose to find out.
This incuriosity had seemed to me irresponsible. Having discovered the previous year that my father had the disease, I had been offered a test that would tell me for certain if I, too, had inherited the gene. In the months of debate I'd had with my husband about whether to take the test, I'd always been on the side of enlightenment. I calculated that the trauma of finding out would be offset by the satisfaction of being able to make informed decisions about my life.
I thought taking the test would be like finding out the weather before you go on holiday. If the outlook was gloomy, at least I'd know what to pack. In reality, it was more like finding out there was a bomb on the plane when you were already airborne. I felt impotent and envious of the uninformed majority. I wished I didn't know.
Following the diagnosis, I read everything I could find about Huntington's disease. Neurological psychologist Nancy Wexler – who had grown up with a mother suffering from HD and was therefore at risk herself – says Huntington's impacts on "everything that makes us human". Wexler is careful not to sensationalise her portrayal of the disease, but this affliction still reads like something dreamed up by the evil genius in a Batman comic strip. The symptomatology bore the infernal imprimatur of the Joker. What could be more testing than an illness that impairs quickly but takes decades to kill – or more cruel than one that robs you of your ability to communicate while leaving your capacity to understand intact?
Huntington's disease (HD) is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline. In the United States alone, about 30,000 people have HD. In addition, 35,000 people exhibit some symptoms and 75,000 people carry the abnormal gene that will cause them to develop the disease. There is no cure for this fatal disease.
A single abnormal gene produces HD. In 1993, scientists finally isolated the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still unknown. But the defective version of the gene has excessive repeats of a three-base sequence, "CAG." In the normal huntingtin gene, this sequence is repeated between 11 and 29 times. In the mutant gene, the repeat occurs over and over again, from 40 times to more than 80.
This defect causes the resulting huntingtin protein to be malformed, prone to clumping in the brain and causing the death of nearby nerve cells. Cells of the basal ganglia, a brain area responsible for coordinating movement, and of the cortex, which controls thought, perception and memory, are most often affected.
Since the gene that causes HD is dominant, each child of an HD parent has a 50-50 chance of inheriting the HD gene. The child needs only one copy of the gene from either parent to develop the disease. A person who inherits the HD gene, and survives long enough, will sooner or later develop the disease. If the child does not inherit the defective gene, the child will not get the disease nor pass the gene on to subsequent generations. Symptoms of HD generally appear in mid-life.
What We Think
I think Huntington's disease is a horrible disease, and from what I've read, there is no cure, which sucks. So i hope that they find one soon.
I think its a really bad disease and that it would suck really bad to not be able to think.
I think it would suck to have this disease and it sucks for the people that have it so really hope they cure it soon, and i agree with Lexi it would suck to not be able to think
More Information: http://www.genome.gov/10001215
1st pedigree: http://vanhornhuntingtonsdisease.weebly.com