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  • I Have Been Diagnosed With Huntingtons Disease...

    Hi, I’m a 31 Mother of two that lives in Nashville, TN. I went into the Hospital for inappropriate sinus tachycardia and left completing a DNA test for the same disease my Father passed away from. I got the results from the test two weeks ago on this coming Monday. I was staged and signed up for research this past Wednesday. My whole life and plan has changed. I was just recently married to my high school sweetheart in April. We went from discussing future vacations to whom will be my Power of Attorney. I decided to document everything from now until my memory allows me to no longer do so. I want to educate others on my rare, genetic, and deadly disease. When I would tell people the disease my Father had, they a. didn’t know what it was or b. would look at me with such sadness. As if, I didn’t know that I could soon have this same fate. It is a combo of ASL, Parkinson's, and Dementia. Only 35,000 are diagnosed in the US, but over 200,000 at risk of getting. One person can affect 20 in their blood line. Unfortunately, due to my Dad being adopted and there being no medical records, we don’t know where it began. Bless his heart, he was misdiagnosed as bipolar for many years until his chorea (shaking and jerking) began. We had no idea of his diagnosis until after my first son was born. I did know after my second son was born and I was in my early twenties. They didn’t have the embryo implantation genetic testing at that time and they knew my family history not saying anything further. I feel extreme guilt knowing that my two boys are now at risk. My oldest who is sixteen is already displaying chorea and they believe he may actually have juvenile Huntington’s. We are still deciding as a family if we should go forward with the testing next week. I will explain the difference between Juvenile Huntington’s and Adult Huntington’s on another blog. The onset is different and progression is, as well. We have been misdiagnosed for many years. Typical onset for an adult is slight mood and depression changes for up to ten years before diagnosis. Typically, getting much worst a year before genetic testing and suicidal is also highest due to the changes in the brain at this time. I have had every disease known to man according to many different doctors and on every antidepressant known to man for the depression and mod changes. How I knew I had it, wasn’t the fine tremors, because I also had an overactive thyroid for many years. But the depression and mood changes changed who I was. I had always been very successful being an Account Executive for eight years at a huge technology company and was also very happy as a whole. I had always had a small amount of seasonal depression, but I could shake it off with a nap and never needed medication. I quit my job in April due to being too depressed to manage and my moods were all over the place. I knew something had to give. I decided I had to figure out what this was before I let it take over my life. While, I had another episode with my heart rate being 170, the hospital did a nerve test. I googled it and saw that it was related to Parkinson's and Huntingon’s. My heart dropped. I knew that my memory had been hugely declining, shaking, and other cognitive functions were also declining. I knew then, even before I called the case manager I had it. I called and thankfully the hospital I was at was a Center of Excellence. The Case Manager and Neurologist on call had me tested and the rest is history. It seems so long ago, but only three weeks actually. Writing and sharing is actually therapeutic for me. I had my first apt to enroll in research this week. While there, the amazing Director did his exam I was placed in stage two. Which is early stages, by their standards. Where the cognitive and motor skills are starting to decline. I am on a cocktail for my Huntington’s and I go back next week to meet with my actual Neurologist. So it hasn’t been said what my prognosis is, but it goes without saying. I’m a realist and I know that essentially I’m dying. There is no cure and nothing to slow down the process. I have hopefully tenish years. I was told that I should do Physical Therapy to help with the shaking and that thirty minutes a day to exercise. It adds years to the disease. So I’m doing just that. I’m working out everyday, taking meds, and getting into the new norm for my body and disease. Where, I’m a realist, I’m also very positive. The dr and I said the goal is just to stay in stage two as long as possible. That’s a real goal that I will work towards by any means. I’m no longer able to work, probably not going to drive after my next apt, and take it much easier on my new body. The great news is that I van volunteer at the Hospital. Which, as corny as it sounds gives purpose. My family, friends, and making new memories are what matter now. Everyday is a brand new day. While, it’s inevitable that I will die from this disease, I will go out kicking it’s ass! Sorry, to write so much. My other posts will be much shorter, I promise! Feel free to ask and questions!

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