One of the toughest things about knowing that you or someone you love has a disease that will eventually claim their life is to wonder if this symptom is the onset of the disease. Is this the thing that will begin the downward spiral to the end?
Because Huntington's Disease affects each person in a different way and has such a wide range of symptoms, it is so hard to tell if that one particular thing is is the beginning or if it is just a one off type of thing that happens to everybody.
For example, all of sudden, you are having a hard time thinking of the right word to use in a situation. It's like you know the word and it is circling around in you brain just waiting for you to reach out and grab it, but you can't catch it. So, you start to panic. That is it! You are now in the thick of it and your life could end at any moment.
Slow down for a minute! Take a breather! Remember that everybody has that issue once in awhile. I know I do. There are so many times when I am sitting here typing away, the thoughts flowing freely and all of sudden, I completely forget the word that I need to convey what I am trying to say - like just now when trying to think of the word convey. Or, you want to say something to someone or ask them a question but the person is busy at the moment so you have to wait. In the time you wait, you forget what it was that you wanted to say. And you finally remember it hours later. I have no family history of Huntington's Disease, so that couldn't be what my problem it is. Instead, it is a simple need to pause for a minute and let the communicating part of your brain catch up with the thinking part of your brain. I am sure there is probably some technical and scientific explanation to it, but I don't know what it is, so I just say it in a way that I can understand. I just take a second to think about it and I can remember what that word is.
The key is to look at the big picture. If something like this begins happening more and more frequently, it very will could be that you are starting to suffer from some of the symptoms of the disease. What is the "frequency" that indicates on-set? I don't know. I am no expert on that. I can say that these two scenarios play out in my mind 3 - 4 times a week. At minimum. If I am having a high stress week, it happens a lot more. However, I recognize that each person is different so the frequency may be different for each person. You have to determine what your normal is.
I am not an expert on Huntington's Disease. I do know a bit from my research on this disease and my experience with Robert's family but I don't have an advanced degree or years of advanced study. What I can tell you from my experience is that if you live your life thinking every little thing is the on-set of the disease, it will only stress you and your family out. I have seen first hand in Robert's sister how extra stress can make the symptoms of the disease worsen very quickly. Stressing yourself you and putting the onset of the disease on you can stress you out and make the symptoms worse.
My best advice to anybody who thinks they are really beginning to exhibit the symptoms of the disease is to find a good neurologist that specializes in Huntington's Disease. It is important that you see someone that accurately understands the disease and the symptoms associated with it to properly treat you for Huntington's Disease. I shared in a previous blog about a neurologist we went to that didn't understand HD and prescribed Robert medication to treat the chorea part of Huntington's when what he really had was Restless Leg Syndrome (RLS). RLS is not a symptom of Huntington's Disease and the meds to treat it are totally different than the ones that are used to treat RLS. Which is why it is important to find a doctor that understands HD.
Once you have found the doctor you like, talk to him or her about your concerns. A doctor that specializes in Huntington's Disease will be able to talk with frankly about the disease and let you know if this is the beginning of on set or just a bad spell that everybody goes through. A doctor can do wonders in calming your mind. If you are having trouble finding a doctor that specializes in HD, visit Local Resources on the HDSA website to find one in your area.
Knowledge and Education are key in helping us all understand and live with this disease and the affects it has on our family and friends.
Showing posts with label Huntington's Disease Awareness day. Show all posts
Showing posts with label Huntington's Disease Awareness day. Show all posts
Thursday, May 7, 2015
Friday, May 1, 2015
Huntington's Disease Awareness Month
It is May. The month that I post more than any other month. Why, you ask? Because it is Huntington's Disease Awareness Month. That month where the HD community works to raise awareness of this dreaded disease we call Huntington's. I like to do my part and tend to write more this month than any other time of the year.
So, I always start the month explaining what Huntington's Disease. In the simplest terms, it is an inherited condition in which nerve cells in the brain break down over time, Think of ALS, Alzheimer's and Parkinson's Disease all rolled in to one. That is the easiest way to communicate the devastation this disease has since people are more familiar with the three of them as compared to HD. There is presently no cure for this disease but there are ways to manage the symptoms of the disease to make it easier for the person suffering. While great advancements are being made, there is still nothing that will stop the affects of the disease.
Huntington's Disease is inherited. That means, the only way a person get the disease is if a parent had it. There is a 50/50 chance of passing the affected chromosome on to a child. Here is a simple info graphic to breakdown the randomness of how it might spread though the generations.
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So, I always start the month explaining what Huntington's Disease. In the simplest terms, it is an inherited condition in which nerve cells in the brain break down over time, Think of ALS, Alzheimer's and Parkinson's Disease all rolled in to one. That is the easiest way to communicate the devastation this disease has since people are more familiar with the three of them as compared to HD. There is presently no cure for this disease but there are ways to manage the symptoms of the disease to make it easier for the person suffering. While great advancements are being made, there is still nothing that will stop the affects of the disease.
Huntington's Disease is inherited. That means, the only way a person get the disease is if a parent had it. There is a 50/50 chance of passing the affected chromosome on to a child. Here is a simple info graphic to breakdown the randomness of how it might spread though the generations.
I could get all technical on you and explain that it has to do with the number of CAG repeats on the 4th chromosome and tell you that the higher the number, the greater chance of getting the disease and the higher the severity of it. But, that isn't what really matters. To understand what the disease is about, you want to know what it does to a person and why it matters to my family that you understand what this disease is all about.
Here are some quick facts about the disease.
While there are cases of Juvenile Huntington's Disease, they are very few and far between. The most common cases are adult on-set. The life span from on-set to the end of life is usually 25 - 30 years. However, since most people are not diagnosed until about midway through the onset, there is usually a much shorter life span once a diagnosis has been made.
The delay in a diagnosis usually comes because a person familiar with the disease is living in denial that HD is the issue for the symptoms. For a person who is not familiar with the disease, for whatever reason, it takes a lot longer because Huntington's Disease is not the first thing that somebody considers when looking for the cause of the many symptoms a person is experiencing.
Some of the symptoms:
Awareness matters. I hope that the information that I have shared today will help you in your understanding of the disease. Without awareness, we cannot find a cure. Without a cure, families will continue to lose people to the disease. Help raise awareness and find a cure!
Monday, June 25, 2012
What is Huntington's Disease?
Encyclopedia Britannica defines Huntington's Disease as relatively rare, and invariably fatal, hereditary neurological disease that is characterized by irregular and involuntary movements of the muscles and progressive loss of cognitive ability (Encyclopedia Britannica). While that is all true information, it only mentions a small portion of the story of HD. Huntington's Disease affects more than just muscle movement within the body and the muscle movement may not be the first noticeable sign of the disease. For some, it might be the inability to control emotions that are affected first or the brain's ability to process thoughts in the correct and logical order. I do give credit to Encyclopedia Britannica for helping to shed light on the disease, but their 400 words do not tell the whole picture or details of the disease.
However, the definition of Huntington's Disease as portrayed in Encyclopedia Britannica is outdated. In the beginning, when little was understood about the disease, this definition was thought to be accurate. However, HD was first discovered in 1872. That is 140 years ago! Like all other diseases and illness, a lot more has been discovered since then. There is a better understanding of how the disease affects the brain, how long the disease takes to progress through the body and even medications that can help reduce the severity of the uncontrollable muscle movement and many vitamins and supplements that have been shown to slow the progression of memory loss. A way that I have begun to explain it as far as symptoms of the disease is to take Parkinson's and Alzheimer's and put them together. Since more people are familiar with these two diseases, it makes Huntington's a little more understandable, too. And that is what it really is. A lot of the symptoms from Parkinson's and Alzheimer's together in on body.
It is more than just a movement disorder. It is a process where the brain slowly begins to deteriorate until the body cannot do much more than involuntary functions such as breathing. And "jerk" uncontrollably because of lose of muscle function and coordination. And the first signs of the disease may not be the uncontrollable movements of a person. I have read stories where a person begins exhibiting symptoms similar to dyslexia or the inability to remember simple every day things that they have done numerous times before. And this is long before the person shows any signs of lack of coordination or uncontrollable muscle movement. I have also seen instances where HD tends to affect the emotional parts of the brain. It might cause a person to be prone violent outbursts - verbal or physical - or unexpected crying episodes that appear out of nowhere. Two people with the disease in the same family can show totally different symptoms in the beginning. Of course, in the end, each person will develop loss of all cognitive ability. It is inevitable.
The disease is caused by an abnormality on the 4th chromosome that causes there to be more repetitions of the codes on these chromosome than their normally is. There is no known cause for this repeat and currently no way to stop it from happening. Studies do show the higher the number of abnormal repeats, the earlier a person will develop the symptoms of Huntington's Disease. There is also some indications that each generation shows an increase in the number of repeats so each generation has a chance of exhibiting symptoms earlier in life (More on HD Chromosome). Although not documented, we personally have learned that high stress levels can also cause the symptoms to become more pronounced. However, once the stress level is reduced, the symptoms can begin to taper off as well. Or at least that was our observations while Debbie was dealing with the stress of her divorce. In the last couple of years, the symptoms are not quite as severe as they were four or five years ago when her stress level was extremely elevated.
Each day, more and more is being learned about this terrible disease and the affect that it has on so many families. But, it is still a relative unknown. I, myself, have said more than once that I had no knowledge of the disease until I met Robert. And, yes, I have heard it mentioned on some TV shows, but I probably wouldn't have cared too much if I didn't know Robert and the rest of his family. However, now, I do know and want others to know. Not just friends of Robert and Debbie and Chrissy, but others, too. I have actually personally come into contact with other people that I work with that have a family member struggling with this disease. It is estimated that roughly 30,000 people in the world have HD. Granted, that is not as many people that have things such as Parkinson's or Alzheimer's, but it is still a lot of people.
And that is just the number of people that have been diagnosed with the disease. That doesn't include the family members and friends that are indirectly affected by it as a result. For example, Robert's mother had a brother and sister that do not have the disease, but they had to watch their father and sister both struggle with it. Plus, their mother had to take care of a husband and a daughter that was diagnosed with the disease. And Robert's brother - who does not have the disease - spent five years caring for his mother when his grandmother and aunt could no longer do it themselves. Plus, all five of Cheryl's kids had to watch their mother deteriorate before their eyes and have her taken from them much to soon. They also witnessed in their teens and early twenties what the disease did to their grandfather and then learn and live with the diagnose of their own mother. And the fear they might have the disease. And the emotional roller coaster until test results showed if they did have it or not. Not to mention the wide range of emotions each of them has to live with after learning those results. It is very emotional for each and every one of them, regardless of whether they received positive results or not. Positive results mean you dodged a bullet but your brothers or sister did not. Plus, Debbie carries the worry of whether she passed it on to her children or not. Since she did not know she was living with the disease until after her children where born, nobody knows if they carry it or not. Testing is not done on minors so the boys cannot learn of their own prognosis until they are 18.
Many people are affected by the disease on a daily basis. And others come into contact with a person that is struggling with this disease each and every day. You may not even know that the person at the table next to you has begun to experience this disease. The uncontrollable tremors, the slurred speech, the difficulty swallowing harder foods such as chips and peanuts are all signs of Huntington's disease. That is one of the many reasons that people struggling to manage the disease are often thought to be drunk or under the influence of some other type of drug. In reality, that may not be the case at all.
We all have or own issues to deal with. There is no discounting that fact. I don't share this information to get sympathy for Robert, Bill, Debbie, Chrissy or Cheryl but to help raise awareness of something that so little is known about. I believe knowledge is power and the more we all know, the more we can all raise awareness and help in the race to find a cure for a disease that does not play favorites and can destroy a family generation after generation after generation.
However, the definition of Huntington's Disease as portrayed in Encyclopedia Britannica is outdated. In the beginning, when little was understood about the disease, this definition was thought to be accurate. However, HD was first discovered in 1872. That is 140 years ago! Like all other diseases and illness, a lot more has been discovered since then. There is a better understanding of how the disease affects the brain, how long the disease takes to progress through the body and even medications that can help reduce the severity of the uncontrollable muscle movement and many vitamins and supplements that have been shown to slow the progression of memory loss. A way that I have begun to explain it as far as symptoms of the disease is to take Parkinson's and Alzheimer's and put them together. Since more people are familiar with these two diseases, it makes Huntington's a little more understandable, too. And that is what it really is. A lot of the symptoms from Parkinson's and Alzheimer's together in on body.
It is more than just a movement disorder. It is a process where the brain slowly begins to deteriorate until the body cannot do much more than involuntary functions such as breathing. And "jerk" uncontrollably because of lose of muscle function and coordination. And the first signs of the disease may not be the uncontrollable movements of a person. I have read stories where a person begins exhibiting symptoms similar to dyslexia or the inability to remember simple every day things that they have done numerous times before. And this is long before the person shows any signs of lack of coordination or uncontrollable muscle movement. I have also seen instances where HD tends to affect the emotional parts of the brain. It might cause a person to be prone violent outbursts - verbal or physical - or unexpected crying episodes that appear out of nowhere. Two people with the disease in the same family can show totally different symptoms in the beginning. Of course, in the end, each person will develop loss of all cognitive ability. It is inevitable.
The disease is caused by an abnormality on the 4th chromosome that causes there to be more repetitions of the codes on these chromosome than their normally is. There is no known cause for this repeat and currently no way to stop it from happening. Studies do show the higher the number of abnormal repeats, the earlier a person will develop the symptoms of Huntington's Disease. There is also some indications that each generation shows an increase in the number of repeats so each generation has a chance of exhibiting symptoms earlier in life (More on HD Chromosome). Although not documented, we personally have learned that high stress levels can also cause the symptoms to become more pronounced. However, once the stress level is reduced, the symptoms can begin to taper off as well. Or at least that was our observations while Debbie was dealing with the stress of her divorce. In the last couple of years, the symptoms are not quite as severe as they were four or five years ago when her stress level was extremely elevated.
Each day, more and more is being learned about this terrible disease and the affect that it has on so many families. But, it is still a relative unknown. I, myself, have said more than once that I had no knowledge of the disease until I met Robert. And, yes, I have heard it mentioned on some TV shows, but I probably wouldn't have cared too much if I didn't know Robert and the rest of his family. However, now, I do know and want others to know. Not just friends of Robert and Debbie and Chrissy, but others, too. I have actually personally come into contact with other people that I work with that have a family member struggling with this disease. It is estimated that roughly 30,000 people in the world have HD. Granted, that is not as many people that have things such as Parkinson's or Alzheimer's, but it is still a lot of people.
And that is just the number of people that have been diagnosed with the disease. That doesn't include the family members and friends that are indirectly affected by it as a result. For example, Robert's mother had a brother and sister that do not have the disease, but they had to watch their father and sister both struggle with it. Plus, their mother had to take care of a husband and a daughter that was diagnosed with the disease. And Robert's brother - who does not have the disease - spent five years caring for his mother when his grandmother and aunt could no longer do it themselves. Plus, all five of Cheryl's kids had to watch their mother deteriorate before their eyes and have her taken from them much to soon. They also witnessed in their teens and early twenties what the disease did to their grandfather and then learn and live with the diagnose of their own mother. And the fear they might have the disease. And the emotional roller coaster until test results showed if they did have it or not. Not to mention the wide range of emotions each of them has to live with after learning those results. It is very emotional for each and every one of them, regardless of whether they received positive results or not. Positive results mean you dodged a bullet but your brothers or sister did not. Plus, Debbie carries the worry of whether she passed it on to her children or not. Since she did not know she was living with the disease until after her children where born, nobody knows if they carry it or not. Testing is not done on minors so the boys cannot learn of their own prognosis until they are 18.
Many people are affected by the disease on a daily basis. And others come into contact with a person that is struggling with this disease each and every day. You may not even know that the person at the table next to you has begun to experience this disease. The uncontrollable tremors, the slurred speech, the difficulty swallowing harder foods such as chips and peanuts are all signs of Huntington's disease. That is one of the many reasons that people struggling to manage the disease are often thought to be drunk or under the influence of some other type of drug. In reality, that may not be the case at all.
We all have or own issues to deal with. There is no discounting that fact. I don't share this information to get sympathy for Robert, Bill, Debbie, Chrissy or Cheryl but to help raise awareness of something that so little is known about. I believe knowledge is power and the more we all know, the more we can all raise awareness and help in the race to find a cure for a disease that does not play favorites and can destroy a family generation after generation after generation.
Saturday, June 25, 2011
Huntington's Disease Awereness Day
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.
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