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 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.

The brain 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.

 Frank Jackowski walked his daughter Cheryl down the aisle at her wedding in  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  "What are Genetic Disorders?" Learn.Genetics (TM). Web. 04 Dec