As If Dealing with Huntington's Disease Was Not Enough...

For the last 18-24 months, Robert’s platelet count has been dropping. A healthy count for platelets is a range of 150,000 – 450,000. As of yesterday, the count for Robert’s platelets was 36,000.

Platelets are very important. They are cells in our bodies that move throughout our blood and “bind-together” when they find damaged blood vessels. In other words, that cut you just got on your leg is full of platelets binding together to clot the blood and makes the bleeding stop as well helps to form the scab that protects the area until it is completely healed.

Low platelet counts can cause easy bruising, trouble getting blood to clot from an open wound and even frequent bleeding from things like your nose, gums and GI tract for no reason at all. Putting pressure on the wound or bleeding can help assist in making it clot but it will take longer for that to happen and can result in significant blood loss if not careful.

There are many reasons for a low platelet count, too. It can be a medication he is taking, an issue with kidney function or an enlarged spleen. There can also be certain types of anemia that could be causing it. These are all easily treatable. However, it could also be the result of certain types of cancer in the body – mainly leukemia and lymphoma.  Those aren’t so easily treatable.

His primary care physician referred him to an oncologist to help determine the root cause of this dropping platelet count. Yesterday, the oncologist performed a bone marrow biopsy in his office and now we wait for the results. That appointment is next Tuesday.

A bone marrow biopsy is where the insert a needle into the bone and a small sample of core of bone marrow is captured.  Robert says it wasn’t too painful but it was did feel a bit strange and caused some minor discomfort.

Of course, we automatically questioned if this is somehow related to his Huntington’s Disease. All of the googling we have done and the conversations we have had with the doctors say there is no real proven connection between the two. This issue appears to be something totally different and unrelated. But, if we are unable to find a treatment for this and increase his platelet count, we have a HUGE problem in the future.

One of the most common characteristics associated with Huntington’s Disease is when the chorea (involuntary movement) sets in. This causes the unsteady gates and frequent falls that many associated with HD often experience as the disease progresses. This is the time that a normal person seeing an HD person on the street would simply think “Oh, he must be drunk”. 

So, being prone to falling with a condition that will cause problems making your blood clot and heal itself when you do fall can be a huge issue.  

Imagine the scenario: you are experiencing  the chorea – imagine Muhammad Ali’s uncontrollable shaking from his Parkinson’s – and it causes you to fall as you are walking along the sidewalk with your wife. Where you elbow lands was a piece of glass that causes a nasty gash your arm.  Your wife tries to put pressure on the gash to stop the bleeding but she can’t because of the chorea. 

Obviously a bad scenario all around.  That is something we want to stop from happening as quickly as possible.

For today, we await the results of the test done yesterday. Until we have conclusive evidence of what the root cause of the issue is, we cannot treat it. Hopefully, it is just a minor issue that we can easily treat and erase the low platelet count in his body. We pray for God’s healing and guidance as we progress down this path he has laid out for us. 

Why I Am For It

This is one of those controversial posts that will upset a lot of people. I get that, but remember that this is my opinion on the topic. Yours might be different, and that is okay.

I am not going to lie! I love animals. I have a dog and would be seriously upset if I were to learn that somebody was using her for testing of any type of drug. However, if the testing they did on her resulted in a cure for Huntington's Disease, I think I could get over it.

There are many schools of thought about the testing of medicines on animals. One is not more right or wrong than the other. Instead, each person has to take a look at why they are for or against the idea. I am for it. Here is why: I WANT A CURE TO HUNTINGTON'S DISEASE! I want a cure so that I don't have to watch anybody else in my husband's family succumb to this dreadful disease.

Today, I want to share with you some of the pros of animal research.

Animal testing and research has helped in finding many drugs and treatments that have helped to improve health and medicine. Things like HIV drugs, insulin and numerous vaccines were found to be effective by testing on animals first. Animal testing has become vital for improving human health.

Animal testing also has helped to ensure the safety of many drugs before they are tested on humans. This has helped to find many drugs that could potentially cause harm to a human before it is ever administered to one. This has helped to save many lives as well weed out many treatments that don't work.

Alternative methods that are often proposed are not viable options. In order to determine the success of a medicine, it is has to be tested in a human or something that closely resemble a person. There is nothing that can be genetically created that resembles the makeup and composition of a person other than some of the many mammals that are used in testing.

The animal most often used for Huntington's Disease research is mice. Testing in mice has resulted in a lot of new information about how Huntington's Disease. Researchers now have a better understanding of how the disease affects the body. For example, one of the most recent things that have been learned is that there are changes to a person's blood supply before HD begins affecting the brain that change how the body reacts to the disease as it progresses through the body. Studying the affects of HD in mice has also resulted in new techniques to screen for for genes that contribute to HD as well as may other neurological disorders. They have also been able to test different options for gene silencing, too. This is an idea that if the gene that causes HD (or any other genetic disease) can be silenced so that it no longer affect the body. None of these things would have been possible by studying done on people that have passed as a result of Huntington's or on an animal that does not have many of the same characteristics of a human.

So, while I can understand that many are against testing on animals, I have to say that I am for it. If for no other reason than the testing puts us one step closer to a cure for Huntington's Disease.

Feeling All Alone in the HD World

Currently, there are about 30,000 people that have tested positive for Huntington’s Disease in the United States. For a country that has nearly 319 million people, that translates into .00009% of the population. A very small number when you think about it. It is so easy to feel like you are the only family out there living with this diagnosis. It can certainly make you feel all alone.

However, estimates are that there are well over 200,000 people in this world that are at risk of having the disease or are currently unaware they are living with the disease.  That is more than the population of 15 individual states and more than the population of North Dakota, Vermont, Washington DC and Wyoming combined. That number does not include the number of family members that do not have the gene but are affected by this disease in another family member. So, you are not alone, even though it does sometimes feel like you are.

I know I was personally amazed when I found out people I know that were in some way affected by Huntington’s Disease. Given the fact that I had never heard of it prior to my husband, I was quite surprised to learn of how many people affected by this disease are out there. Learning of the others out there going through the exact same things that we have has made it a lot easier to deal with. It has also been such a great help to be able to discuss day to day trials of living with HD with people that really know what you are talking about. People that are dealing with the exact same thing or have been there and done that are a wonderful asset in helping cope with the many issues that can arise from HD.

Where is the best place to find that support, you ask? A support group! Getting involved in our local support group was one of the best things that we have done when it comes to dealing with Huntington’s Disease. It gives us the opportunity to be with others who truly know and understand what it is like to live with Huntington’s Disease as a part of your everyday life. Our support group meets once a month. While we cannot make every meeting because of Robert’s work schedule, we do go to the meetings when his schedule permits. It is always a blessing to be with others dealing with the same things.

How do you find a local support group? Visit the HDSA Local Resources page of the Huntington’s Disease Society of America website. This page has resources for all types of things from Support groups to Therapists and even In-Home Care resources. Here you can choose what you want to find and enter you zip code. It will find the nearest ones to you.

You may think that you don’t need to get involved in the group because you no longer have a family member that has HD or that person does not live near you. I want you to know that is not the case. We have several people in our group that have lost a loved one to the disease or have a family member living in another state that come to our group. We even have friends of people that have been diagnosed with Huntington’s Disease. Each person there has a lot to offer the rest of the group and they also get support from the rest of us as the deal with the many different aspects of having lost a loved one to the disease or being away from that loved one who has it.

So, I strongly encourage you to get involved in a group. It is a great resource as you navigate a world with HD and help eliminate some of that “alone in this world” feeling many can get in world that doesn’t know about Huntington’s Disease.

Is This The Disease Starting in Me?

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.

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.

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!