A few weeks ago, I was doing some searching on the Internet looking for new information and treatments out there for HD. This is something that I do on a regular basis. I figure the more I know and can learn, the more knowledgeable I will be in helping Robert as he progresses in his disease. I came across some information that I had read before but had pushed to the back of my mind. When a person begins experience the chorea (movement) symptoms, they are hard to miss if you are around the person. However, the movements usually diminish when a person is laying down or sleeping. I know that Robert's mother always seemed to have less movement when she was sleeping. Of course, as the disease advances, the movement will not stop just become less noticeable when the person is sleeping.
So, this got me thinking about Robert. He has "twitches" in his legs at night or if he sits for long periods of time. He can control it for a few minutes each time, but then it reaches a point where he has to move his leg. He cannot contain the feeling anymore. But, it is mainly when he sleeps and after sitting for a lengthy period. When he lays down at night, the twitching kicks in. Not every single night, but every so often. And, it disrupts my sleep so he has to go sleep in another room. He hates it if I get up and leave in the middle of the night, so he insists that I wake him up and make him leave. But, if the movement associated with HD tends to relax at night, then why is it just the opposite for him? His movements act up more, not less. Probably even more so on the days that he doesn't do a lot of standing or walking. I am no expert but to me, it seems like it may be something else that is causing his leg movement. Like maybe restless leg movement? My research on the symptoms of restless leg movement describes his symptoms to a t.
Now I am concerned. He has Huntington's Disease. We know this for a fact and are well versed in the many different symptoms that are associated with the disease. Between witnessing it progress in the various family members to the hours upon hours of research that I have been doing, we know quite a bit of stuff. But, we also trust the doctors to know stuff about the disease, too. I know that this first neurologist that he went to did say from the outset that she is not "familiar" with HD and Robert would need to see a more specialized neurologist. However, this is the same doctor that his sister Debbie uses and she was not advised to seek a different doctor. So, does she know enough about this disease to really accurately treat a person?
All that aside, my fear is that some symptoms that Robert is experiencing and others that might develop over time might get lumped into being HD when they really are not part of HD but symptoms of something else. Maybe because the doctor does not know enough about the disease or because she doesn't want to take the time to do more tests to find another issue. Is it possible that he might have something else wrong with him, too? Something that nobody has taken the time to find out because they are just putting it all under the HD umbrella?
Almost 10 years ago, we lost my grandmother to Pancreatic cancer. She was 90 years old. She often complained of the pain in her side where her pancreas was located. Most of the time, it was dismissed as the fact that she was nearly 90 years old.Both by doctors and herself. It was not until a few weeks after her 90th birthday that some blood work was done by a new doctor that it was discovered. By this time, it had spread throughout her body and there was little that could be done for her. She died only 3 months after her 90th birthday. Could more have been done for her if someone had listened to her a couple years earlier when it first begin to appear in her body? Nobody knows for sure. And we will never know because it was dismissed without further testing because she was almost 90.
Then, there is me. I have had arthritic like symptoms in certain parts of my body for several years. But nobody took me seriously. I am too young to have arthritis yet. Or at least that is the reaction I got until I insisted on some kind of testing being done to check. And even then, the doctor was skeptical they would find anything. Instead, I learn that I have a rare form or arthritis that usually begins showing symptoms in a person in their early 20's! Also, because I have apparently had it for awhile and did not receive proper treatment for it, I am at risk for the more severe complications such as having to have a hip replaced.
So, I know there are many times where a person's symptom gets dismissed because of one reason or another. And since so little is really known about Huntington's disease, it increases my concerns that Robert may have something else wrong with him - like Restless Leg Syndrome - and nobody will take the time to find out. And, as the disease progresses, and I have to be an advocate for his care, I want to be able to go to a doctor and say that he is experiencing this or that and the doctor to know whether it is or is not a symptom of the disease. I also hope to encourage each person and their loved ones, too. It is important to receive proper treatment for whatever it is that you are facing. But first, you have to know fully what it is and not have it dismissed as part of something else that it is not really apart of.
Now, back to Robert and his leg twitches. We actually met with a neurologist today. This guy asked many questions about Robert's leg movements. He spent a good ten minutes on this topic - and made a diagnosis that had nothing to do with Huntington's disease. Instead, he has Restless Leg Syndrome. But, that isn't all. The medication that the other doctor prescribed for him doesn't treat RLS and can be highly addictive. So, he is going to recommend a change in medication to treat the actual problem that was misdiagnosed. So, one doctor just lumped him into HD when that really wasn't even what it was. Which takes me back to the beginning.
He was lumped into the HD diagnosis when his symptoms weren't really part of it. Because one doctor was not knowledgeable enough about the disease, she just assumed it was something that it wasn't. And since it took a year to get in with this new neurologist, he has been taking a medication that really isn't good for his actual condition. I guess I will continue to do more and more research so that I know what is part of the disease and what is something else entirely. That way I can request further testing if I notice something that doesn't fit under the HD umbrella.
Thursday, June 28, 2012
Wednesday, June 27, 2012
A Day in Court
Bill had his day in court today and only spent about 10 minutes in front of the judge!
Of course, we don't know the answer yet - that takes another 30 days but the lawyer thinks the judge will rule in Bill's favor.
As a refresher, I am referring to the long drawn out process began over a year ago to seek Social Security Disability and has been detailed in previous blogs. HD has robbed his ability to hold down a job and he needs income to support himself. And what a long process it has been.We knew it might be difficult. We had read the stories of denial after denial by many, but also saw how easily the approved coverage for Debbie, so it didn't seem like it would be that hard. We really had no earthly idea it would still be ongoing over a year later. However, today could be considered some real progress.
Today, Bill had an appearance before the judge. We found a lawyer recommended by the Social Security office and he was there with Bill and Robert. I have to commend the guy. He did a lot of research and took time to familiarize himself with the disease so he knew what to expect. Of course, he only gets paid if there is an award to Bill so the effort would work in his favor. He prepared a lengthy brief that defined the disease and talked about the issues Bill was facing. He even included copies of both Robert and Debbie's test records showing the heredity pattern. The court has a vocational expert they use to aide in the decision that was with them via speakerphone. This person makes a statement based on asking a few questions of the person seeking coverage and the paperwork that has been provided to him. This expert basically said that Bill could not work for more than 10 minutes at a time and could not function in a normal work environment. The judge seemed to agree and accept this guy's statement and said she would review the information. They spent 10 minutes in front of the judge! Seriously!!!
Now, the judge will review the situation and issue a ruling. This process usually takes 30 days. And then it will take a week or two before Bill sees the money or we move back to the starting line. The lawyer thinks she will rule in Bill's favor because she seemed to agree with the vocational expert. We shall soon see. Of course, there is no guarantee and now we must wait a bit longer, but the chances of an approval seemed to have improved considerably. I feel for the many others that have had to wait for so long and still have not been approved. I hope it all works out in Bill's favor.
I just can't quite believe that we have had to wait for all this time since the process started and the judge is making a decision about Bill's future based on a 10 minute conversation.
Of course, we don't know the answer yet - that takes another 30 days but the lawyer thinks the judge will rule in Bill's favor.
As a refresher, I am referring to the long drawn out process began over a year ago to seek Social Security Disability and has been detailed in previous blogs. HD has robbed his ability to hold down a job and he needs income to support himself. And what a long process it has been.We knew it might be difficult. We had read the stories of denial after denial by many, but also saw how easily the approved coverage for Debbie, so it didn't seem like it would be that hard. We really had no earthly idea it would still be ongoing over a year later. However, today could be considered some real progress.
Today, Bill had an appearance before the judge. We found a lawyer recommended by the Social Security office and he was there with Bill and Robert. I have to commend the guy. He did a lot of research and took time to familiarize himself with the disease so he knew what to expect. Of course, he only gets paid if there is an award to Bill so the effort would work in his favor. He prepared a lengthy brief that defined the disease and talked about the issues Bill was facing. He even included copies of both Robert and Debbie's test records showing the heredity pattern. The court has a vocational expert they use to aide in the decision that was with them via speakerphone. This person makes a statement based on asking a few questions of the person seeking coverage and the paperwork that has been provided to him. This expert basically said that Bill could not work for more than 10 minutes at a time and could not function in a normal work environment. The judge seemed to agree and accept this guy's statement and said she would review the information. They spent 10 minutes in front of the judge! Seriously!!!
Now, the judge will review the situation and issue a ruling. This process usually takes 30 days. And then it will take a week or two before Bill sees the money or we move back to the starting line. The lawyer thinks she will rule in Bill's favor because she seemed to agree with the vocational expert. We shall soon see. Of course, there is no guarantee and now we must wait a bit longer, but the chances of an approval seemed to have improved considerably. I feel for the many others that have had to wait for so long and still have not been approved. I hope it all works out in Bill's favor.
I just can't quite believe that we have had to wait for all this time since the process started and the judge is making a decision about Bill's future based on a 10 minute conversation.
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.
Thursday, June 21, 2012
Understanding the Turmoil Inside
I have said it before. Huntington's Disease affect each individual on a different level. It can cause impulsive actions, paranoia or even OCD tendencies that cannot be controlled. To live with the person that has the disease, you have to have an understanding of this fact. That doesn't mean that you always have to like it and that you won't get frustrated from time to time with their actions or reactions to a situation. That is human nature. What it does mean is that you will have to develop an understanding of the person and know what their limits and boundaries are so that you do not intentionally push those buttons.
I will share a story of what recently transpired between Robert and his brother, Bill. I found it kind of funny but Robert and Bill didn't quite see it that way. See, Robert was helping Bill clean up his room and bathroom and clothing. Robert wanted to put bleach in the load of all white clothing that he was about to wash of Bill's. Bill didn't like that. He kept saying over and over "I can't take this. I can't handle it. Please don't do it" He was almost in tears at the thought that Robert was going to bleach his clothes. I am not sure what the big deal was about the bleach, but it was causing extreme panic in Bill to the point that he walked out of the house rather than watch Robert bleach this load of clothes.
Now, most of us have used bleach on clothes and know that from time to time, it needs to be done. It is a fact of life and one that I whole heartily support from time to time. But, by the same token, I also understand that some people may feel differently about it. And for a person dealing with the demon of Huntington's Disease in their body, the idea of bleach might send them in to full blown panic mode for whatever reason. They may not be able to fully understand or articulate the feelings themselves so it is going to be even harder for someone else to understand it. So, we have to be understanding of this turmoil that is going on inside them and recognize that certain things may cause the person to freak out. Even over something as simple as putting some bleach in a load of clothes.
It may not always be easy. There may be times that you react like Robert did. He felt Bill was overreacting and didn't understand it. Robert was having a natural reaction to the whole scenario and felt that Bill was freaking out over nothing. I thought the same thing as an observer of it all. I think most of us would fill that way. I wanted to tell Bill he was overreacting, too. In fact, I told Robert that it was all a bit ridiculous. The clothes needed to be bleached. What is the big deal?
However, after a bit, I stepped back and thought about it. For Bill, he couldn't really say what it was. Just that he didn't want bleach used on his clothes. It was really freaking him out. And it might have been a reason that he couldn't fully explain or rationalize, either. It was just the way he felt about it at that moment. And it was traumatic for him. As a person living with the affected person, we have to step back and understand the feelings this person is having. We may not agree with them, but to this person, these feelings are real and serious. So, we have a responsibility to the person to accept the feelings, even when we cannot fully understand them. Pushing back and telling a person they are overreacting can only make this situation worse for them.
All I can do is pray that God gives me the strength and patience to deal with it when Robert starts freaking out because I want to bleach some of his clothes.
I will share a story of what recently transpired between Robert and his brother, Bill. I found it kind of funny but Robert and Bill didn't quite see it that way. See, Robert was helping Bill clean up his room and bathroom and clothing. Robert wanted to put bleach in the load of all white clothing that he was about to wash of Bill's. Bill didn't like that. He kept saying over and over "I can't take this. I can't handle it. Please don't do it" He was almost in tears at the thought that Robert was going to bleach his clothes. I am not sure what the big deal was about the bleach, but it was causing extreme panic in Bill to the point that he walked out of the house rather than watch Robert bleach this load of clothes.
Now, most of us have used bleach on clothes and know that from time to time, it needs to be done. It is a fact of life and one that I whole heartily support from time to time. But, by the same token, I also understand that some people may feel differently about it. And for a person dealing with the demon of Huntington's Disease in their body, the idea of bleach might send them in to full blown panic mode for whatever reason. They may not be able to fully understand or articulate the feelings themselves so it is going to be even harder for someone else to understand it. So, we have to be understanding of this turmoil that is going on inside them and recognize that certain things may cause the person to freak out. Even over something as simple as putting some bleach in a load of clothes.
It may not always be easy. There may be times that you react like Robert did. He felt Bill was overreacting and didn't understand it. Robert was having a natural reaction to the whole scenario and felt that Bill was freaking out over nothing. I thought the same thing as an observer of it all. I think most of us would fill that way. I wanted to tell Bill he was overreacting, too. In fact, I told Robert that it was all a bit ridiculous. The clothes needed to be bleached. What is the big deal?
However, after a bit, I stepped back and thought about it. For Bill, he couldn't really say what it was. Just that he didn't want bleach used on his clothes. It was really freaking him out. And it might have been a reason that he couldn't fully explain or rationalize, either. It was just the way he felt about it at that moment. And it was traumatic for him. As a person living with the affected person, we have to step back and understand the feelings this person is having. We may not agree with them, but to this person, these feelings are real and serious. So, we have a responsibility to the person to accept the feelings, even when we cannot fully understand them. Pushing back and telling a person they are overreacting can only make this situation worse for them.
All I can do is pray that God gives me the strength and patience to deal with it when Robert starts freaking out because I want to bleach some of his clothes.
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