Tribute to Shana Martin

                                                         

                                                     http://.shanamartin.com/hd.html

Please visit Shana Martin's beautiful website about Huntington's Disease and her family. Excerpt from Shana's website posted here:

Thank you for taking a look at this page. May of you already know, and some have no clue about how Huntington's Disease affects my life. During my birth, my mother displayed some abnormal movements. Five years later it was determined to be Huntington's Chorea. My mom was not aware she was at risk for this disease because she had been adopted. While growing up, my dad and I took care of her until eventually we could not safely leave her side. At that point we made a decision to put her in a nursing home. She is currently living at Ingleside Nursing Home in Mt. Horeb, where they take wonderful care of her. We visit her every week, and take her out as much as possible.

      I have a 50% chance of also getting Huntington's Disease. This is a scary thing, but I have known about this for most of my life. There is a test available, but I haven't had the guts to take it yet. I'm sure I will before I start a family though. I am very open about all of this, so if anybody has any questions about the disease, or the personal factors of it, feel free to contact me. I really do want more people to have knowledge about it, since it is such a rare disease.

The Milwaukee Journal Sentinel did a wonderful article on Huntington's Disease and my family.  Please click here to take a look.

What is HD?

      Huntington's Disease (HD) is a devastating, degenerative brain disorder for which there is, at present, no effective treatment or cure. HD slowly diminishes the affected individual’s ability to walk, think, talk and reason. Eventually, the person with HD becomes totally dependent upon others for his or her care. Huntington’s Disease profoundly affects the lives of entire families: emotionally, socially and economically.

      Named for Dr. George Huntington, who first described this hereditary disorder in 1872, HD is now recognized as one of the more common genetic disorders. More than a quarter of a million Americans have HD or are “at risk” of inheriting the disease from an affected parent. HD affects as many people as Hemophilia, Cystic Fibrosis or muscular dystrophy.

      Early symptoms of Huntington’s Disease may affect cognitive ability or mobility and include depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of coordination. As the disease progresses, concentration and short-term memory diminish and involuntary movements of the head, trunk and limbs increase. Walking, speaking and swallowing abilities deteriorate. Eventually the person is unable to care for him or herself. Death follows from complications such as choking, infection or heart failure.

      HD typically begins in mid-life, between the ages of 30 and 45, though onset may occur as early as the age of 2. Children who develop the juvenile form of the disease rarely live to adulthood. HD affects males and females equally and crosses all ethnic and racial boundaries. Each child of a person with HD has a 50-50 chance of inheriting the fatal gene. Everyone who carries the gene will develop the disease. In 1993, the HD gene was isolated and a direct genetic test developed which can accurately determine whether a person carries the HD gene. The test cannot predict when symptoms will begin. However, in the absence of a cure, some individuals “at risk” elect not to take the test.

      Since the discovery of the gene that causes HD, scientific research has accelerated and much has been added to our understanding of Huntington’s Disease and its effects upon different individuals. By continuing to increase our investment in both clinical and basic HD research each year, breakthroughs in treatment – and a cure – will be forthcoming.

Thank you Shana for all you are doing to help us all with HD. Your AWESOME!