Huntington’s Disease

A rare and incurable neurological disease that eats away at the nerves and the brain, causing total mental deterioration over a period of 12-15 years.

It affects a person ability to think, talk and move

The Huntington gene codes for a protein that delivers molecules to cells.

The mutation causes the DNA sequence “CAG” to be repeated too many times and causes brain cells to accumulate clumps of protein that become toxic, resulting in cell death.

Some patients loose more that 25% of their brain cells before they die.

Huntington’s

Normal

HD is autosomal dominant- that means everyone that inherits the faulty gene will eventually get the disease.

A parent with the HD mutation has a 50% chance of passing on the disease to their children.

During pregnancy- taking a sample of fluid from around the baby (amniocentesis)

After birth- genetic test for gene mutation

THE TEST CANNOT TELL AT WHAT AGE A PERSON WILL BEGIN TO GET SICK.

Usually begin between the ages of 30 and 50 but may appear earlier or later in life

• Poor memory

• Depression and/or mood swings

• Lack of coordination

• Twitching or uncontrolled movements

• Difficulty in walking, speaking and /or swallowing

• In the late stages of the disease, a person will need help doing even simple tasks, such as getting dressed.

While drugs can alleviate some of the symptoms of Huntington's disease, it is always fatal. Suicide rates are high.

Within five years of developing symptoms, most people quit work.

Eventually, people with Huntington's disease die of illnesses like pneumonia, caused

by food or liquids that slip into the lungs.

http://www.dailyherald.com/story/?id=42803

Frank Jackowski walked his daughter Cheryl down the aisle at her wedding in 1981.

He died a year later at age 44.

When she misplaces her keys she thinks “it’s here!”

She has chosen not to be tested

He has chosen not to be tested

His children may feel differently

There’s no medical advantage to being tested early

People must undergo psychological testing before DNA testing

It “colors” the future of those who know

Testing may affect other family members who choose not to be tested

"Daily Herald | A haunting inheritance." Daily Herald Home Page. Web. 04 Dec. 2009. <http://www.dailyherald.com/story/?id=42803>.

"What are Genetic Disorders?" Learn.Genetics (TM). Web. 04 Dec. 2009. <http://learn.genetics.utah.edu/content/disorders/whataregd/>.