What really IS Huntington's Disease? Huntington's Disease is an inherited condition where nerve cells in the brain begin to degrade and break down over time. The brains shape is affected by an increase in Lateral Ventricle size as well as degradation of shape. The disease gradually kills nerve cells in the course of a 10-25 year time span with increasing difficulty to process, keep still, or respond. Usually develops between the ages of 20-50 (average of 40), anything before 20 years is called Juvenile HD.
A person generally has no clue that they have HD until it occurs to them. Yes, there are symptoms of pre-HD but they are usually related to cases most people have in their daily lives such as short term memory loss, clumsiness, and other regular occurrences. One way to figure out is if a parent or both have the gene mutation that has possibly been passed down to them as well as medical tests are available for diagnosis. Huntington's Disease is not fatal, but can lead to death due to choking, heart failure, infection or aspiration pneumonia.
Yet the Symptoms people have to live with while they have HD are a lot worse that pre-HD. The symptoms include uncontrollable muscle impulses, decline of thinking and reasoning skills (such as memory, judgement, concentration, and planning/organizing), as well as mood swings, OCD, repetition of tasks, and speech difficulties (such as response and/or processing). None of which sound delightful and become much of a burden to carry.
Huntington's Disease is strictly a genetic disorder, cause by a mutation of the 4th pair of Chromosomes received from the parent. As stated before the chromosome is autosomal dominant meaning that only one copy of the mutation is required to have it. Either it can be received from a parent through genes (meaning if 1 parent has it, the offspring has a 50/50 chance of receiving the gene), or a mutation can occur in the chromosome during development.
Sadly there is no cure due to the fact that it is a genetic trait, yet there are some medications that can suppress the symptoms but not stop it. Medications such as Tetrabenazine (involuntary movement reducer), Antipsychic (treats symptoms of psychosis:disconnection of reality), antidepressants (for the mood swings), and tranquilizers (to relax muscles and decrease likelihood of impulses). It is also noted that patients that are more physically fit/ work out tend to perform better than those who do not.
Meghan Sullivan would have been 27 years old this year, but passed away at 26 due to HD on May 12, 2014. Caring Voice Coalition interviewed her on her Huntingtons Disease back when she was 22 ( in 2012) about her realization of her having the genetic disease in 2006 during her Sophomore year of college. The evening of that summer day, she was pouring lemonade when she knocked the glass on the floor and spilled the pitcher due to sudden body impulses, and realizing she had the disease as her mother told her the truth of her father having it and had been diagnosed when Meghan was 2. Meaghan was 19 at the time and was diagnosed with Junior Huntingtons Disease. After persevering through having the disease she was able to receive her associated degree and lived her days living her daily routine with the help of her mother. Becoming an advocate of HD and organizing a concert for the funding of a cure, her words of encouragement for those with HD were "Be like me, live your life to the fullest, don't lay down and die".
Additional facts: -WorldWide the population of people with HD are 5-7 out of 100,00 people but in isolated areas such as Australia over 9000 people are at risk and 1800 people have it. -The HD gene normally provides the instructions on making the protein Huntingtin which is essential for nerve cell development - Only two famous people have been recorded with having Huntingtons Disease. Retired NBC Journalist Charles Sabine (1960-present) and American Musician Woody Guthrie (1912-1967)
Sources:Website links http://healthlifemedia.com/healthy/wp-content/uploads/2016/09/huntington-s-disease-medical-illustration-symptoms-brain-68174452.jpg http://healthlifemedia.com/healthy/wp-content/uploads/2016/09/HD-n-Normal-Brain.jpg http://hdsa.org/wp-content/themes/hdsa/images/img_HD2.png http://www.alz.org/dementia/huntingtons-disease-symptoms.asp http://www.webmd.com/a-to-z-guides/tc/huntingtons-disease-genetic-testing-what-is-huntingtons-disease http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/causes/con-20030685 http://www.medicinenet.com/huntington_disease/article.htm http://www.dana.org/Media/GrantsDetails.aspx?id=38903 http://www.caringvoice.org/2012/01/meghans-story www.yourgenome.org/facts/what-is-huntingtons-disease