You might be wondering why you don’t really hear about Huntington’s disease elsewhere. Part of it, as I said in my previous post, is that it is rare. Few people have it, so few people care or talk about it. But there are other reasons it is such an uncommon and taboo subject. 

Many people actually keep their diagnosis a secret. In days of old, symptoms of HD were justification to go to a mental facility, so you can imagine how many people wanted to discuss it back then. My family didn’t know what the disease was when my great grandmother was afflicted by it. It was not until my grandmother was diagnosed that people began to put together the chain of events that had preceded it. My mother was totally unaware of the risk of the disease to herself until my grandmother was diagnosed and the doctor explained it to her. We kept it as a secret for a variety of reasons.

Firstly, insurance companies are not forgiving or understanding. You tell them you have a genetic disease, and, before the Affordable Healthcare Act, you would be denied coverage faster than you could blink. Now you just have to pay through the nose but they can’t deny you coverage. My family didn’t want anything on any type of record to show a history of Huntington’s disease because it could have been grounds for me to be denied insurance in the future. 

Second, given its historical connection to mental facilities, it isn’t a comfortable conversation to have. It is like talking to people about depression, bipolar disorder, obsessive-compulsive disorder, or post-traumatic stress disorder. Mental health issues are taboo subjects in this country and have been for a long time.

Third, it is an ugly process to watch, and once people know you have it, they watch your every move like hawks. It is hard when you are already questioning yourself about whether you have it, it is harder when everyone else is watching you like you’re under a microscope, analyzing your every stumble and quiver. It makes it difficult for you to be comfortable with whoever is doing that, so the fewer people you tell, the less you have to worry.

A lot of people with HD today still don’t like to talk about it for all of those reasons. That is part of why writing this blog is so important to me. In order for us to get the funding to find a cure, more people have to be aware of the existence of the disease with the first place. We have to bring it out of the shadowland it lives in and out into the daylight. We have to talk about it, and the more people who join in to that conversation, the better. I have nothing to lose by telling you about myself and my connection to this disease, but if I keep it a secret, if no one ever knows, I could lose a bunch of my family, myself, and maybe my children to this disease. I, for one, am not willing to let that happen. 

When people learn that my mom has Huntington’s, they usually react by babying and coddling her. Some people give up their seats, some don’t let her help with things, some talk to her like she is 5, and some don’t talk to her at all. It is very frustrating for me to watch this happen, so I am sure it is especially frustrating to her. The earlier stages of Huntington’s are generally not anywhere near as severe as people seem to believe. While there are exceptions, most HD patients experience a very gradual downward slope, and it is not until they are several years down the road before symptoms become extreme. The initial process typically involves a loss of memory, slight movements, an increased tendency to drop things (due to movements), and a slowing of the reaction process. This means that if an HD person was driving a car and was very early into the disease, there would be virtually no difference. As the disease progresses, however, the ability to process and react to situations decreases and slows, making driving a hazard. 

My uncle refused to stop driving his car after he was diagnosed, which was fine for a little while because he was ok, but as time went on and the disease progressed, it became a huge problem. He eventually wrecked two of his own cars and drove through his garage door. 

The point I want to make is this: we all tend to treat ill people like they are incapable. Being ill and being capable are not mutually exclusive. Barring risk of injury or death to themselves or others, an HD patient is actually better off in most cases being allowed to continue to do the things they normally would do. So don’t go and do the dishes for them unless you’re just trying to be helpful, or not let them stand up for periods of time, or whatever else it is you think sick people do. Don’t treat them like they are sick. Treat them like you normally would. Talk to them about things you normally talk about. Do things with them you normally do. It’s not really that hard, because they aren’t really that different yet. There will come a time when those measures will be necessary, but it is further down the path. Don’t treat them like they are sick!

When we talk about HD, we talk a lot about good days and bad days, however most people don’t really understand what that means. When I tell people my mom has HD, their immediate conclusion probably looks something like this: But that is far from the truth – for now. The reality is that Huntington’s is a slow progressing disease for most patients. So if you see a patient several days in a row, you might not notice a significant difference from one day to the next, but months or years in between visits can be like seeing a totally different person. 

What good days and bad days really means, though, is that some days it is almost like nothing is wrong. A person can be organized, efficient, productive, remember things well, and hold conversations well. What happens on bad days is basically the opposite of all of that. On a bad day, there is a very apparent disconnect between thoughts, actions, and reactions. On a good day, you could have a conversation like this:

“Hello. How are you?”

“I’m fine, how are you?”

Without any problem. On bad days, that conversation could be more like:

“Hello. How are you?”

Long pause…..

“Hey.”

Long pause…..

“How are you doing?”

“I’m ok, how are you?”

Long pause…..

“I’m ok. How are you doing?”

It takes longer for an HD person to process the information given to them. Bad days affect everything that they touch. It could make them clumsier, they could drop more things or stumble more frequently, or they could not be able to remember very well. It manifests itself in numerous ways. 

One of the primary factors in dictating good days or bad days is sleep, much like it would be for anyone. Another factor, however, is whether they are following their typical routine or not. Having a set routine is very good for someone with HD because it allows the processes to become ingrained so they are less easily lost over the course of the disease. It also helps the person retain their ability to do whatever things they are doing within their routine. 

My great uncle was not diagnosed with HD until very late in his life. He had a farm, and so he would have his daily routine of breakfast and work and he continued to do that even after he was diagnosed with HD. It helped him retain those skills, so he was further along when the movements stopped him from being physically able to do those things. Every day for an HD person is truly unique, and every person with HD has a unique experience of the disease. The hard part is to be thankful and happy with the time that you have while there are more good days than bad.

Sometimes I find myself pausing to take in a moment; a conversation with my mom where we are both laughing, going to the park or the beach together, talking about books we have read and crafts we enjoy. In those times I will take a moment and really take in the scene. How my moms face looks when she laughs, the way it sounds, how good it feels to be talking and joking with her. I want to remember it all, to soak it in, so that one day when we can’t do all of these things anymore, I will have the memories. One day, the bad days are going to outnumber the good and be much worse than they are now, so I try to be grateful for having those moments with her in the first place. 

The thing with Huntington’s disease is that it is a one way street right now with no u turns. Once you are diagnosed, you know where it is going to go. In a way, that can actually be liberating. You no longer have time for tomorrow or someday. You have to live your life right now as though you won’t get any second chances, because you might not.

Photos:

https://imgflip.com/meme/Spiderman-Hospital

One thing that truly bothers me is when a caregiver in a situation is treated as though they have an easy task or not given support. Caregivers, regardless of the situation – whether it is Huntington’s or simply old age – have a really tough job. They have to care for and provide for another human being who is not a child, and that is part of what makes all the difference. A child can be told what to do and will generally listen; an adult who is told what to do will tell you where you can stick your demand.   Adults have an independence that can make care giving a terribly frustrating and difficult task. They think they don’t need your help. They think they can do it their way. They think their way is the right way. They don’t aknowledge your authority to tell them what to do. It can be very much like talking to a wall; you get no response.    Caregivers in an HD situation, though, have a slightly more difficult task. To illustrate this point, I will tell you a few stories about my uncle, who was diagnosed with HD about 6 or 7 years ago. First, let me preface all of this by saying that the people in my family are known to be stubborn; our ansestral herald could be a mule.      When you pair that kind of innate stubbornness with someone who is very delusional about their condition, it can be a recipe for disaster. My uncle can barely walk because his movements have become severe, but does he use a wheelchair? No. He will walk, darn it, or not go at all. He still mows his lawn on his ride on tractor because it makes him feel useful to cut the grass. The other day, he decided he needed to trim his hedges, so he got out his electric trimmer and went about doing it, when he had a movement and nearly cut off his finger.   To make matters worse, he refused to go to the hospital, despite everyone’s attempts to make him go. He simply would not listen. Now, my uncle lives in rural Virginia, so it is much harder for family to get to him and make him go to the hospital, but he simply would not listen. It is this kind of bizarre thought process that caretakers of people with HD have to deal with. 

Additionally, the nature of the disease is truly difficult to watch, even for those who don’t know someone well. So imagine watching someone you love very very much losing every aspect about them that makes them who they are, but there is nothing you can do about it except watch. It is hard. It is painful. It is a daily struggle with who they used to be for you and who they are now. As the disease progresses, there are more conflicts between who that person that you love is today and is capable of today compared to how they were a year ago, two years ago, five years ago. Every day there is a fresh reminder of what has been lost. 

Caretakers of people with HD need a lot of support from family and friends, but the nature of the disease tends to drive people away. It is hard to watch a person go through it, and many, like me when I was younger, choose not to. It is easier and less painful. But the caretaker is often left high and dry during a point in time where support is needed the most. This is why I am a big proponent of the Huntington’s Disease Society of America (HDSA). Some people won’t support HDSA because only 10% of donations go to research. However, a large portion of donations goes to resources for family members and caretakers, such as counseling sessions, group meetings for caretakers to vent about whatever they want to talk about, social functions so that people with HD and their families can meet other people like themselves, because most people don’t understand what we go through. They help take care of the HD person and their whole family, because all of them need the help. 

To donate to HDSA, go to www.hdsa.org, or donate to my fundraiser directly on My fundraiser page.

When I was old enough to really understand what Huntington’s disease did to a person and how it functioned, I was devastated. I remember praying, bartering with God. “God, if you’re listening, I need a favor.” I would pray. “If you make it so that my mom doesn’t have HD, I will do anything you ask of me. I will go to church every Sunday, I will go every day if you will it. I will do charitable works, I will help those in need; I will devote my life to your service. Just please don’t let her have HD. I can’t afford to lose her. I don’t know what I would do without her.” 

Growing up, my mom was always my rock. She was the person I turned to in every time of need. When I had problems with friends, problems with family, or problems with school, she was there to help me, comfort me and guide me through any situation. She was the most patient and empathetic person you could ever meet (and still is). She was stronger and more capable than I have ever thought any one person could be. My family called her Handy Sandy because she could fix just about anything in the home. She has always been a big proponent of DIY home improvements, and she did a good portion of the fixing in any house we lived in, along with my dad. She got job offers from plumbers and electricians, painters, and dry wall installers. She was very precise and exacting with any project she undertook. She had the endless patience to homeschool me through my middle and high school years, something that was certainly challenging for all of us and changed the dynamic of our relationship. Sometimes my father would come home from work to find my mom and I waging a war of silent treatment upon each other (usually after math lessons). I am certain he hated those days in particular, because he often had to figure out what was wrong and get us to reconcile with each other; not an easy undertaking. 

When my mother was actually diagnosed with HD, it crushed me. I was a senior in college, set to graduate in the spring, taking 6 classes and working. I had okay grades, and then she got her results back. My grades plummeted. It just didn’t matter anymore to me. I began to realize that grades aren’t everything in the world, and that there are bigger things that matter much more. I started doing poorly in almost all of my classes, and probably would have failed a bunch of them if not for the concern of several of my professors. They intervened on my behalf to ensure that I would still be able to graduate and not completely lose my GPA. They gave me Incompletes instead of Fs. 

The next semester, I worked my butt off to get good grades. I started going to counseling sessions on campus, which helped me a lot. It was really awkward when I would sometimes see my friends after a session with a runny nose and tears in my eyes. I worked hard and graduated the following spring, but it was a struggle. After I graduated I decided not to go to grad school because I needed a break from the educational system. I needed to refocus and adjust to this change in my life. 

When the statistics say that Huntington’s disease only affects 30,000 people, I believe they are wrong. That number of people might carry the gene marker, but the actual affect the gene has is much greater than just those people. It has an affect on everyone who cares about a person diagnosed with HD. This could be family, extended family, friends, coworkers, aquaintances, the list goes on and on. It affects the 150,000-200,000 people who are at risk of developing the disease. It doesn’t even take into account the spouse who has to watch the person they wanted to share their life with go through this. Children who are not at risk of the disease (by marriage or adoption) are also not accounted for. It affects whole communities that aren’t included in the statistics and discussions on the subject. It’s like saying that the experiences that all of those people go through don’t count because they don’t have Huntington’s, which is completely inaccurate and absurd. The people who should be counted first and foremost, are the entire immediate family, whether they are at risk or not, because they are the ones who will face the greatest challenges. If the affect of HD was more accurately portrayed, it would probably be closer to 500,000 people who are touched by the disease in some way.

Did you know? Huntington’s disease is a rare genetic disorder that only about 30,000 people in North America have. This means that if everyone who has HD in all of North America went to a football stadium, they would take up less than half of the seats in an average 70,000 seat stadium.   Did you know? George Huntington, the discoverer of the disease, suffered from it himself. His 1872 description of the signs and symptoms are still used today as major determining factors when diagnosing a person with the disease.   Did you know? Advocates for Huntington’s disease wear blue ribbons. However, blue ribbons can represent more than 30 different kinds of medical issues. 

  

Sources 

http://www.huntington-study-group.org/hdbasics/tabid/91/default.aspx

http://m.hopkinsmedicine.org/psychiatry/specialty_areas/huntingtons_disease/patient_family_resources/education_whatis.html
http://awarenessribbongifts.com/awareness-ribbon-colors/

Photos 

http://ashton-design.com/content/portfolio/00.ravens-stadium/00.baltimore_ravens_stadium_signage.jpg

http://en.m.wikipedia.org/wiki/George_Huntington#/media/File:George_Huntington.jpg

I vividly remember the first time my grandmother forgot who I was. I was about 8 or 9 I think, and we had just been visiting her at her nursing home. I sat down with her and said “Hi, Grandma!” She looked at me with a blank, polite expression and said, “And who are you?” It was like a knife to the heart, to be forgotten. I didn’t fully understand at the time what HD was, so it  was frightening and upsetting. How could she not know who I was? Now I understand that it was the disease, and I’m sure she would have remembered me if she could have, but at the time it made it difficult for me to visit her. It is one of the things I regret the most. 

I only saw her once or twice a year, so each time I saw her was drastically different and more alarming than the last time. The next time I saw her, she couldn’t feed herself. The time after that, she was in a wheelchair because her movements were so violent she couldn’t walk. I tried to give her a hug and a kiss, but the movements made us awkwardly knock heads. She had such powerful movements that they had to strap her to the bed at night or she would fling herself to the floor in her sleep. I didn’t really try to talk to her anymore, because she didn’t know who I was. The following time, she couldn’t talk anymore. The disease caused her to be unable to move her mouth and tongue to make speech. The last time I saw her at the nursing home, she was sitting at a cafeteria table. They had died her hair some horrendous shade of red. All I can remember is that she looked like a candle flame, with her flourescent orange-red hair flickering and bobbing around the table.

 It was hard to watch her be reduced to the silent, bobbing waif I saw at the nursing home. I remember when I was younger we would watch the ice skating events during the Olympics. She enjoyed the beautiful costumes and the grace of their sport. I used to play in her room all the time because it was so bright and sunny. I can still remember the way the sun would shine through the window, warming the whole carpet, and the way the room smelled, a distinctly sweet scent that I will always associate with her. Once, when I got scared during a movie, I ran to her room and we sat together watching ice skating on tv until it was over. She always wanted to make me happy. She was a wonderful, warm, and caring person, so when Huntington’s robbed her of her strength and independence, it was hard to cope with. 

Having been through HD once already, I now have a better grasp of the causes and effects, but that doesn’t make it any less challenging. I didn’t have the strength to be there for my grandmother after she became affected; I have to have the strength to be there for my mom. I can’t run away and hide from it again. I have to be there for her while we still have the time, because one day, we won’t have that anymore. HD in one way, can almost be a blessing. It is much harder to take things for granted when you know they will be taken away. It is easier to be thankful for the small things, like being able to go for a walk together through the park, or having a normal conversation. It makes it easier to forgive wrongdoings and missteps. It forces you to look at the bigger picture of life. 

When I became pregnant with my first child, it was much earlier than I had really anticipated having children. But after thinking things through a little more, I am forever grateful that things happened the way they did. Now my children and I will both have the memory of being with her, of having fun together, and they will have something positive to remember her by. If life had gone the way I had planned, we would probably have never had any of that. Sometimes things happen for a reason. 

I tell you all of these things, not so that you will feel sorry for me or have sympathy. I say them so that you will understand that every family member in an HD family is affected by this disease; no matter how old or how young, it will leave its mark on you. It is what you do with it that counts. You can hide it in shame and fear, as many do now because there is such a lack of understanding for those suffering from these types of diseases in our hyper-judgemental society. Or you can take that mark and use it to help others. That is what I am choosing to do with mine. I want you to know what we are going through, so that others will understand, and so those suffering in silence from this can come forward knowing they are not alone. We kept this as a huge secret for years in my family; trust me, I understand what it is like to keep a secret like that. To feel like no one understands what you are going through. To feel alone and afraid. But we are not alone. There is a community of support for those with HD, and I am here to tell you it is going to be ok. It’s not going to be fun. It’s not going to be enjoyable. It’s going to take you way out of your comfort zone. But all of us are going through the same thing. There is always a silver lining to every thundercloud, you only need to look for it. 

People always say to write about something you love or something that you are passionate about. For me, there are 3 things I am truly passionate about: my children, scuba diving, and Huntington’s Disease. 

 
While I might not discuss Huntington’s Disease with everyone, I think about it every day. It affects many aspects of my life and how I view the world. Is it a fun topic to talk about? NO. Watching someone you love go through it or going through it yourself are probably among the least fun things to talk about, ever. But they are things that need to be discussed, whether the conversation is comfortable or not. 

Since I know that very few people have any kind of idea what I’m talking about when I say Huntington’s Disease (HD), I will give you an explanation of the disease by the Huntington’s Disease Society of America.
 

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. https://hdsa.org/what-is-hd/

So I’m sure what you’re thinking right now is “OK, that doesn’t seem too horrible,” so let me illuminate the situation further. Having Huntington’s is like having Parkinson’s disease,  mononucleosis (MS), Lou Gherigs Disease (ALS), and Alzheimer’s disease, all rolled into one fun bundle of joy. The affected person loses memory and logical thinking processes, develops violent and uncontrollable body movements, and eventually loses all ability to take care of important needs such as taking showers, using the toilet, walking, eating, dressing, or generally living life in any capacity. Many Huntington’s patients end up in nursing homes due to their total dependence on others. Huntington’s also can make an affected person’s mental processes change. Someone who was once frugal could suddenly go on daily shopping sprees; someone who was neat and organized will lose all of their ability to focus on something and organize it. It can make the afflicted person mean, cold, and uncaring (whether they intend to be or not, but each case of HD is unique), or, on the flip side, can make someone outgoing and chatty. The disease destroys the process in the brain that would normally hold a person back from doing or saying a thing they want to do or say, so the affect it has is unique to each individual. 

A person with HD has a 50/50 chance of passing it on to their children, and the chance for the children to develop it 50% for each child. This means that if you have 4 children, all four could end up with HD, none could develop it, half could, 3/4, or just one child could become afflicted with the disease. Since it is a mutation of a gene, it is like being in a casino; you just have to roll the die and see if the outcome is in your favor. 

  
One final and important note about HD, is that it currently has no cure. It will kill you in the end. A person, once diagnosed, can live anywhere between 10-20 years before the disease becomes fatal. However, you are much more likely to die of something else (like choking on food – among the top 5 causes of death in HD patients) before that actually happens. The bright side, is that there are a lot of new medications being developed for other diseases that work on HD patients as well, such as the medication initially developed to control movements in Parkinson’s disease patients, but now used for HD patients as well. Medications for Alzheimer’s patients are being used the same way. Every day doctors are searching for things that will make an HD person enjoy a better quality of life for a longer period of time, and every day doctors are searching for a cure. We will continue to hope for a cure. 

Until that happens, I am going to write about what HD is like, how it affects me and my family, how it affects my children, and how we all cope.