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Wednesday
Nov182015

Huntington’s Disease: do you want to know your future?

If there was a genetic disease running in your family, would you want to know whether you will develop it? The documentary “Do you really want to know?” shows three stories of people that have been tested for Huntington’s Disease.

Huntington’s Disease (HD) is a devastating incurable disorder characterized by progressive degeneration of neurons in certain areas of the brain, and results in uncontrolled movements, emotional disturbances, dementia, and weight loss. 

HD is a genetic, inherited disease and each child of a parent with HD has a 50% chance of inheriting the gene and eventually developing the disease. Although people are born with the defective gene, they do not usually develop symptoms until the 30-40s. Not only there is no cure, but not even a treatment that slows down the progression of the disease.

The gene responsible for the disease was identified in 1993 and, since then, genetic testing is available. Before that, people at risk could only hope for the best and watch for the appearance of symptoms, taking life decisions like getting married and having kids without knowing if they would pass the HD to their offspring.

This uncertainty does not longer need to exist but, however, most individuals at risk choose not to be tested and live their lives not knowing if they carry the HD gene.

These people are confronted with the difficult decision of whether or not to be tested. If they receive a positive test, they are effectively receiving a death sentence with an awful end. Even if they receive a negative test, they often think about other family members that may not be so fortunate and develop a sense of guilt.

Check out the documentary to see how people react to their results, some times in surprising ways.

CLG

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Huntington’s Disease Documentary (2012): Do You Really Want To Know?

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