26 August 2015

My Name is Sam and I'm "At Risk"

        Let me start you with the basics. My name is Sam. I'm in my mid 20's. I originally started blogging 6 years ago during maternity leaves doing parenting reviews. My blogging interests have tweaked with the passing years. I am working on updates. I have four beautiful kids, all under the age of 10. I work for the USPS as a "mailman/lady". There's not a down moment in most of my days and I wouldn't change it for anything. 
     For ten years I've lived with the knowledge that there's a potential monster lurking in my body. I don't know when it would appear.... or if it's even there. At 14 I witnessed my grandmother's slow cancerous decline into her passing. At the time I believed it to be the cancer that took her away. I didn't know the deadlier culprit was already in her blood and that it had been coursing through her veins her entire life. The genetic testing revealed Huntington's Chorea. Other family members knew what it meant. I did not. There's a stigma attached to family secrets. They aren't suppose to be told. Why something medical fell into this category I never understood. Ironically the genetics that bond us all together are the same ones that could kill us. While overhearing conversations it was always referred to as "the family disease". We were all affected, whether we admitted it at the time or not. 
My Aunt who inspires me daily. She spends much of her free time with my Uncle.
He has confirmed HD 
            My grandparents had 5 children. (I inserted a diagram below to help show how the gene is passed over time). In the past decade one has been diagnosed and placed in nursing home care. He is one of the most beautiful people I know and with the care he receives he's improved greatly but his diagnosis will never change, there is no cure. He has no children so there's no-one else at risk. Two others went through the mentally grueling process of genetic testing and to the relief of many, both tested negative. This cleared not only them but a total of 6 kids (my first cousins) and 2 grandchildren. Two others have not been tested, this is a personal choice and what they are comfortable with. It is their right. Without the test results for those branches of family there are 3 kids at risk, counting myself. If the gene was passed to my parent I have a 50/50 chance of being positive as well. 
           In the beginning it was always taught to keep quiet. I believe there needs to be acceptance and admission. Shame has no place here. There is power in knowledge, power that can help wipe out the fear associated with all Huntington's Disease brings. If everyone hides away that which scares them so deeply, how will we ever find each other and get the help and treatment that's needed? I don't want answers in 20 years. It will be to late. I need them now. My family needed them generations ago. My name is Sam and I'm "at risk" for Huntington's Disease. Regardless of how my testing ends HD will always be a part of my life because it's a big part of my family's history.  

           Until further testing is done I try to live like I would if I'd received a positive result. That way there can be no regret. There is so much I have to do and so much left to feel. The lingering chance that I may not know who I am in 25 years drives me. Very few people knew the risk. I try to leave little bits of myself all over so that if I'm unable to, my children and grandchildren can find me. I leave my marks randomly on paper, in pictures, up mountains and down streams. In everyone I meet and everywhere I go it's my hope that I left something worthy of remembrance. I will share my story with you in the hopes that it can be shared with someone else in my situation. To make a difference in one person's life would be enough. There are days with moments of sheer silence, only open eyes. I need to take it all in. To watch my kids play, to hear their laughs and know someday those sounds could be taken. That silly song they sing constantly in the car, I won't even remember it. Being told I'm loved won't sound the same. Childhood memories will be just theirs to share. I won't be able to reminisce on how each story goes.
       How unfair it would be of me to keep the risks to myself and not share the negative possibilities with the ones that care about me.... I told him. He didn't run. Most days it isn't even a topic worth conversing. We have lots to do. We want to do those things together. He makes my heart race. It just works. While mid adventure I will often stop to look at the surroundings and the man in front of me. I love him immensely, I don't want to forget a thing. Nothing should be allowed to touch feelings placed safely in the heart. I know each soft spot on his hands. I won't let them go.  
              I'm a physical person with an athlete's mind. I love the challenges I can give my body to make it stronger. Nonetheless these muscles I work for now could be the same ones that run me into walls and drop me off staircases later. I talk......constantly. With HD it's possible to choke to death on saliva while conversing or eating.....daily. You spend your life building everything into the person you want to be. A rare terminal genetic disease could take all of mine away, I will build anyways. 
     I have included some facts on the disease and given you many facts about my own journey. If you're in my situation or you've been down this path I hope you reach out. I'm open to any contacts. It's my hope to continually share and update my journey with you. It's a process where I'm not even sure how it ends. People assume terminal illness has a specific look or that it could never be them. I'm only one living in the at risk category of thousands, but this is what it looks like. To me, this is normal. Living every day knowing something in my DNA could eventually appear and wreak havoc on everything I know. So when you catch up with me and you think I'm living to fast or pushing to hard try to remember where I'm coming from and then feel free to join me. 

Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to mental decline and behavioral symptoms. Symptoms of the disease can vary between individuals and affected members of the same family, but usually progress predictably. The earliest symptoms are often subtle problems with cognition. A general lack of coordination and an unsteady gait often follows. As the disease advances, uncoordinated, jerky body movements become more apparent, along with a decline in mental abilities and behavioral symptoms . After the onset of Huntington's disease, a person's functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from disease onset to death is often about 10 to 20 years.
The clinical depression associated with Huntington's disease may increase the risk of suicide. Some research suggests that the greater risk of suicide occurs before a diagnosis is made and in middle stages of the disease when a person has begun to lose independence.
Eventually, a person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. However, he or she is generally able to understand language and has an awareness of family and friends.
Common causes of death include: Pneumonia or other infections, Injuries related to falls, Complications related to the inability to swallow. Physical abilities gradually worsen until coordinated movement becomes difficult. Mental abilities generally decline into dementia. Complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy to around twenty years from the point at which symptoms begin. Physical symptoms can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age. The disease may develop earlier in life in each successive generation. 
HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, which is why the disease used to be called Huntington's chorea. The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called Huntingtin. This means a child of an affected person typically has a 50% chance of inheriting the disease. The Huntingtin gene provides the genetic information for a protein that is also called "huntingtin". Expansion of a CAG (cytosine-adenine-guanine) triplet repeat stretch within the Huntingtin gene results in a different form of the protein, which gradually damages cells in the brain, through mechanisms that are not fully understood. 
Diagram showing a father carrying the gene and an unaffected mother leading to some of their offspring being affected; those affected are also shown with some affected offspring; those unaffected have no affected offspring

There is no cure for HD, and full-time care is required in the later stages of the disease. 

     Existing pharmaceutical and non-drug treatments can relieve many of its symptoms.
The genetic basis of HD was discovered in 1993 by an international collaborative effort spearheaded by the Hereditary Disease Foundation. Research and support organizations, first founded in the 1960s and increasing in number, work to increase public awareness, to provide support for individuals and their families, and to promote and facilitate research. Current research directions include determining the exact mechanism of the disease, improving animal models to expedite research, clinical trials of pharmaceuticals to treat symptoms or slow the progression of the disease, and studying procedures such as stem cell therapy with the goal of repairing damage caused by the disease. (Excerpt From The HDSA) 

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