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.
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