An Appointment With the Neurologist

Robert had an appointment with his neurologist yesterday.

Mainly because he it has been over a year since his last appointment with her and he is supposed to have yearly appointments to discuss his progression in the disease. It was also in part because he has been experiencing an issue with choking on certain foods for a while now. He has to be careful what he eats because it can cause him to start coughing and it raised some concerns for us. After all, choking can be a major problem in a person with Huntington's Disease. He also wanted to mention the struggles with his platelet count and get her thoughts on it. And discuss his continued Restless Leg Syndrome issues.

He walked away with the best news ever:

Do you see that?  "NO SYMPTOMS OF HUNTINGTON'S DISEASE". 

Now, for anybody that has tested positive for Huntington's Disease before they show symptoms, you know how awesome that little piece of news is. Especially when the minor symptoms such as the chorea and cognitive issues usually begin showing up somewhere between the ages of 35 - 45 and you will be 46 in a few short months. A notation like this one is the best news you could hope for. Even though you know there are still some issues that need to be addressed. 

The doctor thinks that the issues with the choking have more to do with acid reflux and other gastroenterological issues versus Huntington's Disease. Based on his symptoms and how the issue manifests itself, it does not present as a normal symptom of Huntington's Disease. So, he is being referred to a gastronterologist to discover the real issues. 

As we thought, the platelet count issue is not related to Huntington's Disease. It, too, is a separate issue that will continue to be addressed by his Hematologist. She also said that taking out his spleen should not be a problem. I was a bit concerned how the removal of the spleen would present problems at a later date, but according to her - it is a non-issue. 

So, overall a very good appointment.Yes, he does need to follow up with another doctor about some concerns and we are still dealing with the platelet count issue. However, that one little statement makes it a very successful appointment and you can walk away feeling much happier about how things are going. I know Robert did. 

That Method Didn't Work, So What Do We Do Now?

Back in May and June, I shared with everyone the details of Robert's diagnosis of  Idiopathic Thrombocytopenic Purpura. This is an issue where his body is attacking his platelet count and causing it to drop over time. Since your platelets are what help your blood to clot, they are kind of important.

When he was given the diagnosis, the doctor put him on a daily dose of Prednisone. So, for those of you who may have thought it was putting on weight because of his puffy chipmunk like cheeks, it was because of the medication. He had to have blood work done just about every week to see if it was increasing his count. In the beginning, it was. After just a couple of weeks, his count increased greatly. We were ecstatic. The medicine was doing its job. But, then his count started to drop again. The doctor said it is not uncommon for a dip every now and then. It will usually spike back up again. Only his hasn't. While it is not nearly as low as it was when he was first diagnosed, it is still low. 

So, the doctor wants to try a new approach. He wants to do an infusion similar to what they do for many leukemia patients that have low platelet counts. This will mean he has to spend anywhere from 4 - 6 hours a day, once a week in a chair with an iv in his arm to pump the medicine in him. This is a fairly new treatment for ITP and has been shown to have great results. We certainly pray it works on Robert. If not, the next step is to remove the spleen.

The doctor assures me that having his spleen removed is no big deal, but I don't see it that way. Your spleen helps produce your white blood cells. Your white blood cells help fight infections. So, you are at greater risk for developing many infections. Throw in a disease that can cause you to choke, causing fluid to collect in your lungs and put you at a higher risk for pneumonia, it can be an issue. I want to keep my husband around for as long as possible. I don't want to add more complications to the disease that I know will one day take him from me. 

Plus, the recovery time from this surgery can be lengthy and difficult. There is usually a lot of pain and discomfort as well as risks that are associated. For now, all we can do is pray that the infusion treatments do the trick. He will start them in a couple of weeks and I will keep everyone posted on the progress of them.

Her Legacy of Love

Five years ago today, we were getting ready to make the long drive to Cleveland, OH to say goodbye to one of the most important people in my husband’s life. His mother had passed away the day before and we were make preparations to make the trek to celebrate her life.

So, here we are five years later and I have such bittersweet emotions. I am deeply saddened that she is no longer with us. I know that each one of her children are, too. However, I am relieved because I know that she is no longer suffering from the havoc that Huntington’s Disease caused on her body. I feel so bad for Robert, Debbie, Craig, Bill and Kevin because they no longer have their mother in their lives. They no longer get to call her up and share the joys of their lives with her. But, I am happy because she spent her days shaping each one of them in to the wonderful sons and daughter they are today. I hate that we lost her – and many others – way too soon to this dreadful disease. I am hopeful though because I know we are one step closer to finding a cure for this disease that rips apart so many families.

Above all else, I am so grateful for this wonderful woman that I only had the opportunity to spend time with on four occasions in the six years that I got to know her. Our time together was short. She was already showing the effects of Huntington’s Disease when I met her. She could only talk and carry on a conversation the first time I saw her. And even then, it was more like talking to a two year old where she only said a few words instead of full sentences. What I remember about those conversations is what she would say – almost on repeat – to Robert several times a day.

She constantly told him “I love you”. Even when she couldn’t say much, she worked hard to say those words and to let him know that he was loved. That is the legacy that she left behind that still resounds today. Above all else, she loved her children dearly. They meant the world to her and she made sure they knew that. Ask any one of them, and they can share story after story about the loving, thoughtful things she did for them. 

There is a saying that the legacy you leave behind is the life you live lead today. The life that Cheryl Everett lived was a life of love of her family. That is the legacy that lives on today. Nobody that had the opportunity to have her as a part of her life would ever question her love for them.  So, that is what I choose to remember about her today – that legacy of love that she left with every one of her children, her grandchildren, her sister, her brother and every other person she came in touch with. Remembering that makes me happy because I had the opportunity to spend a few moments with her and experience that love for myself.

It’s been five years since she stopped suffering. That doesn’t mean we aren’t still saddened or that we have stopped missing her, but it does get a little easier each day. Her legacy of love lives on and I see each and every day in her children.

The Importance of Reading the Labels.

A few months back, I wrote about Robert and his low platelet count – the tests and the results.

Well, he was prescribed Prednisone to take for a few months to boost his platelet count. Then, once it gets into the “acceptable range” he will be weaned off the medication and monitored to see if his platelets drop again. So, he has been taking the medicine. But apparently not enough.

When he went to the doctor last week, the doctor was concerned because the count was not as high as it should have been at this point in the treatment. Plus, he was quite surprised that Robert was not feeling any of the real side effects from the meds other than a decreased appetite and a little difficulty sleeping. He hasn’t been dealing with the swollen feet, finger or hands, agitation or nervousness or many other things. The decreased appetite and sleeping problems are also not that bad. Of course, when he commented to Robert that he should be halfway through his second bottle of meds and he is still on the first one, Robert began to suspect something.

Neither one of us are entirely sure where it came from, but for some reason, we both thought he should only be taking 1 tablet a day. Turns out, that isn’t the case. He is supposed to take 8 tablets a day. No wonder he wasn’t feeling that many side effects! That has changed and he is now taking the 8 pills a day as instructed, but it brings up a very important point.

It is very important to read the instructions on medications and make sure you are taking the correct dosage. Too much or not enough will have results different from what is expected. In this case, Robert’s platelet count was not going up nearly as fast as the doctor thought it should and was going to consider some alternate treatments. Instead, we are waiting to see if he responds the way the doctor thought he would when he is taking the correct amount of medication every day.

This is also important for a care-giver. Sometimes, the person you are taking care of may not be taking the right amount. Instead, they take the amount they wish to take. It is up to you to make sure you read all the prescriptions and dosing information to be sure you are giving the correct amount. It could make a huge difference in how the person feels and responds when taking the medication as really instructed.

A Bleesing in Disguise

It seems my refrigerator decided that it wants to be a freezer. Really. My refrigerator started to partially freeze things for some reason. That does create a bit of a problem since I don’t like my milk to be slushy when I drink it. So, on June 13^th, I called my home warranty company to report this issue.

Little did I know that two months later, I still wouldn’t have this problem fixed.

Long story short, there was a serious of missed appointments from the contractor that was supposed to be fixing the issue, wrong parts order and a bunch of misdiagnosed problems. They kept saying it was one issue and ordered parts to fix it only to find out that really wasn’t the problem and another part ordered. In fact, at one point, my refrigerator was doing double duty as a freezer. Everything in there was a solid block of ice. That makes it difficult to add milk  to your cereal or any other food recipe that calls for milk when it is a gallon sized milk cube. 

Finally, after the 6^th no call/no show we told the home warranty company that we wanted a different contractor to come out and repair the problem. We were tired of the original company that was assigned and all of our issues with them. Lies, excuses, wasted time and parts being held together by duct tape had made us reach our breaking point. We wanted someone new to come out. Thankfully, the home warranty company listened to us. Either that or the complaint filed with the BBB was enough for them to understand we were highly ticked off at the whole thing. A new contractor was assigned; that turned out to be the biggest blessing of all.

The new contractor showed up when he said he would which was a huge point in his favor but that was just the beginning. Robert gave him a brief history of the problems, he took a look at how it was being held together with duct tape and said “You need a new refrigerator”.  He said the parts would not go back together 100% correctly at this point and we would always have issues with it no matter what so it needed to be replaced. Five minutes in our house and that was his recommendation.  Woohoo!

We had two options for replacement. We could receive a comparable model refrigerator or we could have a check cut for the cost to purchase one ourselves. We opted to have the check cut and purchase one ourselves because we wanted to upgrade. Our current one is a black side by side and we want a stainless steel French door. A little more pricey, right? Not necessarily. We have actually been able to find one that we really like at one of the nearby outlet stores for just a few dollars more than the check we are going to be given. Granted, it might have a few scratches on the side and maybe a dent on it, but I can live with that. It was bound to happen anyway from day to day use at my house.

Now, I just have to wait to receive the check and for it to clear the bank; I have to wait for the refrigerator to be delivered to my house. I know this adds a few more weeks to the wait. I can see the end in sight, though so I am okay with that. I am getting a new refrigerator to replace the one that I currently have and it will cost me next to nothing; an upgraded model to boot! I would consider that a huge blessing in disguise.

The reason I share this story is to remind you (and myself) that many times the current hardship we are in leads to a greater reward. We just have to get through whatever it is that is going on. I have spent so much of the last two months angry and frustrated with everything that has been going on that I couldn’t see the bigger picture. How many times can any of us say that about something that is happening in our lives at this precise moment? We get so caught up in how horrible life is today that we can’t see beyond the awfulness of it all. So many times, the trial that we are enduring today is preparing us for something so much greater that God has for us. He is just waiting for the right time to reveal his ultimate plan for us. In this case, I have dealt with a lot of annoyances and inconveniences for nearly two months, but the end result is going to be worth it.

So, remember that no matter how bad it all seems today, what God has planned for you tomorrow far outweighs the frustration you have today. I know this is easier said than done but I hope that I have given at least one person a little bit of encouragement about the trial you are going through today. 

The Marriage Relationship and HD

Talk to any "expert" and they will tell you that one of the most important parts of a lasting marriage is intimacy- both sexual and non-sexual. But what happens when a disease robs your spouse and you can no longer show intimacy to you?

That was one of the topics at the most recent HDSA Convention. Debbie Pausig hosted a workshop called Managing Marital Relationships in HD. In this workshop, she discussed the various ways to show intimacy to your spouse as the disease progresses. She herself is the widow of somebody who lost the battle with Huntington's Disease.

In this workshop, she takes everybody through the various stages of the disease and how they affect the relationship. All of the changes to the relationship at each stage. Not just when it comes to having a sexual relationship with your spouse, but all of the different areas of the relationship from raising the kids to handling the finances and cleaning the house. The reality of this disease is that it will affect all aspects of your life together.

Intimacy is about more than just the sex part of the relationship. It is about loving a person for their mind, body and soul even when the physical aspects may not be present. So, how do you do that?

Ms. Pausig has some advice. First, remember what it is that you fell in love with and why you still love him today. Even in the late stages. Learn to just "be" with your spouse. Take the time you have to just sit together and be in the moment. What things do you love about him today that you may not have seen or known in the beginning? The most common thing the non-HD spouses told her during the workshop was the grace and courage that a spouse was handling the progress the loved one was handling the disease without complaining or doing the "Whoa is me" mantra.

She also gave ways to be intimate without having sex. This is a big one because there will come a time when your spouse can no longer be sexually intimate and you have to find a way to keep that love and intimacy alive. There are some great ways to show intimacy that go far beyond what happens in the bedroom:

Kiss your spouse on the forehead or cheek.

Say "I love you" and wait for the response - even if it takes some time and is hard to understand.

Hold hands while watching a movie

Look into his eyes while feeding him and helping him drink

Lean up against her while sitting together on the couch

Stroke his cheek with your finger

Rest your head on her shoulder

Run your fingers through his hair

These are great options for anybody to show intimacy and communicate your love for your spouse, even if he or she is not in the later stages of Huntington's Disease or any other disease that might affect the intimate side of your relationship. 

Being intimate is an very important part of the marriage relationship. Many studies have shown that once that piece of the relationship is gone, the rest of the marriage falters. Sharing intimacy on any level with your spouse can help strengthen you both and face the many obstacles that you will face as you progress down the road that is Huntington's Disease. 

It Is Okay to Share Your Burden

Back at the beginning of the year, I had some major surgery. It was a very typical and routine surgery for my doctor who performs hundreds of this surgery each year. It was a big deal for me, though since it was me going under the knife.

I didn't tell a lot of people that I was having surgery. I told some close friends that I was having it and asked for their prayers but I didn't broadcast to the world that I was having it. It wasn't because I was worried what people might think or anything like that. Granted, I did get questions on why I did the surgery and why I didn't look at other options but that had nothing to do with why I didn't tell people.

The reason I didn't want to tell people is because I didn't want to burden other people with my problems. I figure that everybody has enough to worry about that I didn't need to share my problems with them. I know that my friends love me and would be praying for me and help me out in any way they could as I went through my recovery. But I still didn't want to bother them.

This is the same feeling that many in the HD world have, too.

For the ones experiencing symptoms of HD, you don't want to tell others what is going on with you. You don't want people to look at you differently. You don't want to worry your family and friends that you have begun to show symptoms. You don't want to share your depression or anxiety or nervousness or any other feelings. You don't want to burden anybody with your problems.

For the care-giver, you don't want to seem like you are complaining. You don't want people to think you can't handle it. You don't want it to seem like you are incapable of taking care of your loved one on your own. You don't want it to seem like you are wimp. You don't want to burden anybody with your problems.

Look at the flip side of things. How do you feel when you hear that a friend went through a really rough time and didn't say a word to you? Especially if it was a close friend? You feel kind of hurt. You wish they wouldn't have kept it from you. Those friends feel the same way when you don't share your burden with them. They want to know about your struggles.

Sometimes, sharing that burden allows others to bless you in some way. If you don't share your burdens, you rob somebody of the ability to be a blessing. Sharing your burden and letting other people know about your struggles can also be a benefit to you. It can help to relive some of the stress and make it a bit easier for you to bear.

Don't be afraid to share your burdens or your stress or your worries about HD with your friends. They are their for you and are willing to listen and help in anyway that you can.

Bravery

I admire Marianna Palka. She is a very brave young woman. She put her story and her journey out there for the entire world to see. And this was before she knew if she was living with Huntington’s Disease.

Marianna has been a model, a screenwriter, director, actor and even photographer. With the help of her friend and fellow director, she also became the full focus as she embarked on the life changing journey to be tested for the awful disease that has claimed her father. He is in the final stages of a life cut short by Huntington’s Disease.  So, at the age of just 32 and not yet exhibiting symptoms, she made the decision to get tested. She also chose to record it for the whole world to see.

The Lion’s Mouth Opens  is her story. It is a brief 27 minute documentary that begins the night before she learns her results. She is having dinner with several friends and discussing Huntington’s. They talk about the disease; she details the process that you have to go through before getting tested. Marianna talks about the state her dad is in and what it has been like to watch him deteriorate and know there is nothing that can be done to stop it. In Marianna’s own words “Getting a positive result is like a death sentence, and if you get the opposite, then you just get to be like everybody else. Those are two such different realities.” I think she sums it up pretty well.  A positive result paints the grim picture of the remainder of your life. A negative picture is like an unfinished story, just like everybody else in the world.

If you are familiar with Huntington’s Disease, watching this documentary is not easy. Watching it is a window into the life of so many people who have made the courageous step to be tested before showing symptoms of what has been nicknamed by many as “the devil of all diseases” since it can be likened to Parkinson’s, ALS and Alzheimer’s packaged together as a gift you hope never to receive. The film ends with some facts about the disease and some film of people that are living with Huntington’s Disease in various stages. I won’t lie; if you have had experience with the disease, you know that it is not all rainbows and unicorns.

The Lion’s Mouth Opens is available On Demand via HBO or on the HBO to Go App. I understand that both Marianna and Lucy Walker - who helped produce The Lion's Mouth Opens are already working on part 2 of this story to chornicle Marianna as she continues to live with Huntington's Disease. All the more reason to admire this amazing lady.

 I will leave you with just a small portion of the 5 page eulogy written by Bob Dylan about his friend Woody Guthrie who was lost to Huntington’s Disease.

And the lion's mouth opens and yer staring at his teeth
And his jaws start closin with you underneath
And yer flat on your belly with yer hands tied behind

My Favorites

There are so many resources that can be found on line about Huntington's Disease. Some are simply informational. Some provide resources and contact information for doctors, support groups and much more. Some are simply blogs like this one about people that are dealing with the exact same thing as my family. Here are my favorites.

The most important one is the Huntington's Disease Society of America website. This website is jam packed with information about the disease, where to find help in your area and even resources - including webinars - for the caregiver for an HD person. I am a frequent visitor to this site. In addition, I also like the Greater North Texas HDSA website. This one is for the local HDSA chapter in the North Texas area that has information about the happenings in my area. There are many other chapters and affiliates throughout the country. To find one in your area, choose chapters and affiliates from the About HDSA drop down on the home page of the Huntington's Disease Society of America website. It will ask you to enter your zip code and show you the closest chapter to you.

Another one for news and information about the disease is HD Buzz. The website's motto is Huntington's Disease Research News - in plain language, written by scientists, for the global HD Community. In other words, they take the important news out there about Huntington's Disease and put it in to words that you and I can understand. They don't use those big scientific words that we have no clue how to pronounce or what they mean. They even have a weekly newsletter that you can subscribe to for emails about the latest and greatest news. Or, you can get the information via a podcast if that is your preference. This is usually my go to when I see new news about a possible treatment or discovery since it is so much easier to understand.

Another good one is Huntington's Disease Lighthouse. This a website that is created by families with Huntington's Disease for families with Huntington's Disease. It is full of blogs, message, forums and so much more for families that are dealing with Huntington's Disease. It is created by others that are going through the same thing you are and is a good resource when you are looking for somebody to understand what you are going through. Who better than a person that is dealing with the exact same things you are.

We Have a Face is geared at raising the global awareness of Huntington's Disease. They do this using the most state of the art technologies to broaden everybody's awareness and knowledge of Huntington's Disease and even lesser know Juvenile HD.  My favorite thing on their website is the motto: Never give up hope, You are not alone.

The last two on my favorites list are both blogs written by others with Huntington's Disease.

At Risk For Huntington's Disease is written under the pseudonym of Gene Veritas. It is full of information about the writer's life and also updates on some of the new and promising research that is taking place. He also details some of the many happenings in his life. This blog does tend to be lengthy and full of a lot of hard to understand information, but it still very informative.

The other blog, Huntington's Disease and Me is written by a lady named Sarah who identifies herself as being in the early stages of HD. She is actually the one that started the HD Pie in the Face movement last year. Her blogs are more about the day to day life of somebody who is living with HD. She talks about her symptoms and how they affect her day to day life. It is an inside glimpse of what it is like for a person who is showing symptoms and how it affects everything and everyone around her.

These are my favorites. I hope you find at least one of these or any of the many others out there as useful as I do. More than anything, it helps to know there there are resources to help you and that others out there are experiencing the same things that you are.

It's Not The Worst Case Scenario, So Now What?

Did you hear that big sigh of relief earlier today? I am sure it was heard around the world. Robert and I both had huge sighs of relief when we saw the doctor for his test results. It wasn't the worst case scenarios that we were concerned about. He doesn't have leukemia or lymphoma. PRAISE GOD!

That doesn't mean he is out of the woods and nothing is wrong. He has Idiopathic thrombocytopenia purpura. The easiest way to explain it is that his immune system is actually attacking his platelets. Obviously, this is still a huge concern because anytime the immune system is attacking the body's normal functions, there is a problem. So, we are not out of the woods, yet.

However, it is treatable. He will be given steroids to suppress the part of his immune system that is attacking his platelets. The doctor will also continue to monitor the counts to make sure they rise and that he is doing better. He will also have a CT scan tomorrow to check and see if his spleen is causing the problem. If there is an issue with his spleen, he may have to have it removed. That is an issue that will have to be addressed depending on how he responds to the steroid treatment.

All in all, though, I can live with that because it is a treatable issue. I also have to give thanks to the many friends and family that prayed for us over the last week. Those prayers gave Robert and I peace and strength to get through the week. We love and appreciate each and every one of you.

The news of the day is that we can get his platelets up and that eases the worries of increased danger of HD related injuries. Huge relief, major answer to prayers and thanks to God for taking care of us.

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!

A Fictional Story about Huntington's Disease?

The story opens with something that anybody with exposure to Huntington's Disease can understand...

 A police officer cannot find his gun. He swears that he took it out of the safe and put it in the holster but it isn't there. Why not? What happened? His wife moved it on him. He knows she did. And she has been doing things like that a lot lately. Finally, he finds it, makes accusations at his wife and even looses his temper in the process. But he doesn't understand why and the family is scared. He is even more scared when he looks and sees his mother's glossed over eyes looking back at him. His mother was in the mental hospital because she was a drunk. However, he never drank so it must be his imagination. His mom died when he was just 11 years old so he had no idea what was really wrong with her. 

Fast forward seven years. The forgetfulness has gotten worse, his temper is more erratic he has a hard time sitting still. He has problems walking a lot of the time and his mind seems all jumbled and uncoordinated at times. Others have noticed it, too. Even his friends have started to wonder if he has drinking problem or something. He finally decides to humor his wife and goes to the doctor. What he learns at the doctor will forever change the lives of his entire family.

And so begins the story of Inside the O'Briens by Lisa Genova. 

Lisa Genova is a graduate of Harvard with a doctorate in Neuroscience. She already has three critically acclaimed books about the brain. One about a lady with a traumatic brain injury - Left Neglected, the story of a boy with non-verbal autism - Love Anthony, and the story of a family as it deals with the diagnosis of Alzheimer's Disease - Still Alice. Still Alice was made into a movie, too. I haven't read any of these but have heard that Still Alice is a wonderful true to life story of what families go through - from the diagnosed person to the people caring for that person. Her latest book - Inside the O'Briens - has been said to be transcendent in its story of a family dealing with the diagnosis of Huntington's Disease. 

I approached this book with some skepticism. In the past, the exposure of Huntington's Disease in the main stream world hasn't been the best. It is usually glossed over or gets all of 5 minutes mention in a TV show. Not necessarily the best representation of what Huntington's Disease really is. So, I was really apprehensive about this book.

One page in, I was hooked.

I could tell that it was going to be a wonderful story and from the get go, it was obvious that Ms. Genova had spent some serious time with a family dealing with Huntington's Disease. She took time to understand the intricacies of the disease and how it affects not only the person diagnosed but the family, too. The story is told from the perspective of Joe and his daughter, Katie. Lisa has done a very good job of showing the struggles of the entire family. There is the workings of Joe's mind before the disease and the concerns of his wife who can tell that something is not right. Then, what happens after the diagnosis has been made - from telling the family to knowing that you have possibly passed on this awful disease to your children.  From Katie's side, you get to see the struggle of a someone who is "At Risk" and whether or not to get tested and if you really want to find out the results of the test.

I'm not going to lie. This story is sad at times and you will probably shed a few tears, but it is full of happy moments, the love of a family as they all come together and triumph for everybody in the family as the begin to accept the inevitable but refuse to let a diagnosis rule their lives. It is a definite must read.

The Parity Act: What It Is and Why It Matters

Dealing with a diagnosis of Huntington’s Disease is challenging enough. Especially if you have reached a stage in your life where you are exhibiting symptoms of the disease prompting you to get tested. So, when you reach that point where you can no longer work because of the disease and are not old enough to retire, you need an easy approval process for both Social Security Disability and Medicare.

As it stands today, the definition of Huntington’s Disease as defined by Social Security is inaccurate. The only symptom of the disease that they recognize as being a disability is the presence of chorea. If that was the only problem with the disease, it would not be a big deal. Unfortunately, that is not the case.

Huntington’s Disease affects the brain in a variety of other ways as well. Many of these other symptoms begin showing up long before the chorea begins to take place. They can be just as debilitating and make it impossible for a person to perform many of the duties that even the most basic of jobs requires. There are many cognitive and behavioral issues that can begin showing as far out as 10 years before any of the uncontrollable movements begin to take place. 

There are many different ways that loss of cognitive function can affect you. For example, say you are a UPS Delivery Driver that has to drive a truck around every day. You have the same route every day. You have several places that you need to stop at every day either to deliver packages or pick some up. Unfortunately, Huntington’s Disease has begun to affect your mind though, and one day you forget a stop on your route – even though you have had the same route for 10 years. This causes you to be reprimanded in some way. It continues to happen at random and you progress along the disciplinary action plan as set forth by your company until they have no choice but to let you go.

The situation really is beyond your control.  You cannot help that your brain has short circuited in such a way. It is not your fault that Huntington’s Disease has begun to wreak it havoc in your life making it impossible to do things that you used to do every single day. The last thing you need is to have difficulty getting the disability benefits you need because of this outdated definition of the disease.

Speaking from experience, it can take years of denials before being approved for Social Security Disability. From the time Robert’s brother first applied to when it was finally approved, it took three denials and nearly two years. Finally, thankfully, he was approved for benefits. It still took two years and caused a lot of hardship on him and us as his caregivers as well. Stress is not a good think for a person dealing with Huntington’s Disease and heaping this undue stress only makes things worse.

Plus, there is a mandatory two-year waiting period before a person can get Medicare after they have been awarded disability benefits. Two years is a very long time in the world of a person who has reached this stage in their condition. There are numerous medications that can help a person living with HD by minimizing some of the symptoms of the disease but that are not cheap and cannot be afforded by someone living on disability alone. There have been many who have died during the two year time frame because they do not have access to the medications that can help them.

Both the definition  of Huntington’s Disease as defined by the Social Security Administration and the two year waiting period for Medicare need to change. Currently, there is an act before Congress called the Huntington’s Disease Parity Act that is aimed at making these changes a reality.  We need them to pass it. Not just for my family, but for every family out there that has to struggle with this dreaded disease.  We need to urge our elected officials to pass this bill for every family out there.  

You can help!

For more information, visit the Huntington’s Disease Society of America’s Advocacy page to learn more about the bill and how you can help. You can also visit Raise Your Voice for Parity to locate your state representatives in Congress and encourage them to take action on this bill.  I hope you will consider doing so.

  

Team Hope Walk 2014

So, five months since my last blog. How does that happen? Factor in a anniversary trip to Disney World to celebrate our 10th wedding anniversary, my graduation from college with a Bachelor's Degree in Business Management, the holidays and a surgery for me that involved a few set backs, it is easy to see how time can get away from you. Add in a severe case of writer's block and time can pass in a blink.

Hopefully, life will return to normal now and I can get back in to the swing of things.

In October of last year, Robert and I did something that has become one of our favorite things to do each year. We participated in the Team Hope Walk that the Great North Texas HDSA affiliate organizes for the area.  I thought I would share some of the pictures from that day.

     

First, we had t-shirts made for everyone to buy and wear. We charged extra for the t-shirts and sold them to family and friends, too. All told, we raised an additional $286 dollars from the t-shirts to donate to the HDSA. Thank you to everyone that bought a t-shirt. 

We got a lot of compliments on our shirts, too. Pretty much every person that we walked by commented on how much they loved our shirts. 

On the back is the name of several people in the family that have Huntington's Disease. If they have lost the fight, we added in the years. They are 

Robert's Great Uncle (His grandfather's brother)

Robert's Grandfather

His Mom

His Uncle (From his Great Uncle)

His brother

His sister

His cousin (daughter of his Uncle)

Robert

For the walk, we had Robert's sister Debbie, her three boys, a friend to one of the boys and Robert's daughter. We even brought Lady along for the ride. 

We had a pre-walk warm up with the shark and lion to the Cha-Cha Slide. 

And then we were off. The actual walk is approximately a mile around a small pond near Les Lacs park in Addison. Here, Debbie is being helped along by a couple of the boys as we walked around the pond.

Afterwards, there were hot dogs and other snacks. There were also several tables set up from the different sponsors for the walk as well as a lot of informational tables. We are hoping this year that we can get Robert's brothers to join us and have an even bigger group and show of support.