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However, the definition of Huntington's Disease as portrayed in Encyclopedia Britannica is outdated.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.
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