In June of 2010, Congress designated June 25th as National Huntington's Disease Awareness Day with the goal of raising awareness and the need for further research. Huntington's Disease was first discovered by Dr. Geoge Huntington in 1872. The mutated gene that causes Huntington's Disease was discovered in 1993 and research has increased rapidly since that time. But there is still no effective treatment or cure for the disease. And research is still being done every day to help find a cure for this disease.
What is Huntington's Disease? It is a disorder passed down through families in which certain nerve cells in the brain waste away, or degenerate. This is caused by a genetic defect on the fourth chromosome that causes a part of DNA to repeat more than normal. In an uninfected person, the repeat occurs 10 to 35 times. A person with Huntington's Disease has this repeat anywhere from 36 to 120 times. As each generation passes it on to the next, the number of repeats grows and the number of repeats usually determine the severity of symptoms and the progression of the disease. A low number of repeats has a slower progression. People with a higher number of repeats usually develops symptoms earlier in life and progress at a much faster rate. The average progression of the disease is 15 - 20 years from the onset of the beginning symptoms. The most common cause of death is the result of a complication such as an illness that the body is not strong enough to fight off.
The gene is hereditary. There is a 50% chance that an infected parent will pass it on to a child. There is no way of knowing if that will happen or not. There are ways that you can stop the gene from being passed on such as donor egg or sperm programs, testing that can be done on an embryo allowing parents to make the decesion to keep the child or terminate a pregancy before the baby is given a chance and even the oppurtunity to chose in-vitro fertilization where test can be done prior to embryo implantation. But, through the natural process, it's a 50/50 chance. We each have our own thoughts on that. Mine can be looked at in an earlier blog.
Finding a cure is important, but an understanding of the disease is important, too. Not only so that families can be more informed about how it affects them but so that those outside the family affected can understand, too. Many times, the disease can go undiagnosed if the person is not aware that they are at risk. Then, when diagnosed, the infected person can often be discriminated against because people do not understand it. And like any other discrimination, the misunderstandings are often passed on from one generation to the next. This makes it harder to wipe away that stigma.
If you had mentioned Huntington's Disease to me eight years ago, I would have no idea what you are talking about. If you didn't know Robert or Debbie, you probably wouldn't, either. If Robert had not come in to my life, I wouldn't have a clue what the disease is or how it affects families generation after generation. And I will admit that if I wasn't familiar with the disease and how it affects people and had met Robert's brother Bill in passing, I would be contributing to the stigma. He can sometimes have uncontrolled tremors, walk around with an unsteady gait and his arms will be bent at the elbows and flail around somewhat. Eight years ago I would have dismissed him as a drunk or as a mentally ill. Only that would not be the case. There is something very wrong inside his body that cause him to act the way he does. That is why this day is so important. Putting a stop to the stigmas and raising awareness of the debilitating disease are as important as finding a cure.
Understanding the disease and sharing the information with others is important so that we can increase awareness of a heartbraking ordeal that affects approximatley 30,000 people worldwide and their families. Watching one family and how this disease has changed their lives is more than enough. I want to end it so that no other family has to endure what Robert's family has. I hope I have done my small part in helping to educate others about the disease and the importance of more research that will lead to a cure.
What is Huntington's Disease? It is a disorder passed down through families in which certain nerve cells in the brain waste away, or degenerate. This is caused by a genetic defect on the fourth chromosome that causes a part of DNA to repeat more than normal. In an uninfected person, the repeat occurs 10 to 35 times. A person with Huntington's Disease has this repeat anywhere from 36 to 120 times. As each generation passes it on to the next, the number of repeats grows and the number of repeats usually determine the severity of symptoms and the progression of the disease. A low number of repeats has a slower progression. People with a higher number of repeats usually develops symptoms earlier in life and progress at a much faster rate. The average progression of the disease is 15 - 20 years from the onset of the beginning symptoms. The most common cause of death is the result of a complication such as an illness that the body is not strong enough to fight off.
The gene is hereditary. There is a 50% chance that an infected parent will pass it on to a child. There is no way of knowing if that will happen or not. There are ways that you can stop the gene from being passed on such as donor egg or sperm programs, testing that can be done on an embryo allowing parents to make the decesion to keep the child or terminate a pregancy before the baby is given a chance and even the oppurtunity to chose in-vitro fertilization where test can be done prior to embryo implantation. But, through the natural process, it's a 50/50 chance. We each have our own thoughts on that. Mine can be looked at in an earlier blog.
Finding a cure is important, but an understanding of the disease is important, too. Not only so that families can be more informed about how it affects them but so that those outside the family affected can understand, too. Many times, the disease can go undiagnosed if the person is not aware that they are at risk. Then, when diagnosed, the infected person can often be discriminated against because people do not understand it. And like any other discrimination, the misunderstandings are often passed on from one generation to the next. This makes it harder to wipe away that stigma.
If you had mentioned Huntington's Disease to me eight years ago, I would have no idea what you are talking about. If you didn't know Robert or Debbie, you probably wouldn't, either. If Robert had not come in to my life, I wouldn't have a clue what the disease is or how it affects families generation after generation. And I will admit that if I wasn't familiar with the disease and how it affects people and had met Robert's brother Bill in passing, I would be contributing to the stigma. He can sometimes have uncontrolled tremors, walk around with an unsteady gait and his arms will be bent at the elbows and flail around somewhat. Eight years ago I would have dismissed him as a drunk or as a mentally ill. Only that would not be the case. There is something very wrong inside his body that cause him to act the way he does. That is why this day is so important. Putting a stop to the stigmas and raising awareness of the debilitating disease are as important as finding a cure.
Understanding the disease and sharing the information with others is important so that we can increase awareness of a heartbraking ordeal that affects approximatley 30,000 people worldwide and their families. Watching one family and how this disease has changed their lives is more than enough. I want to end it so that no other family has to endure what Robert's family has. I hope I have done my small part in helping to educate others about the disease and the importance of more research that will lead to a cure.
