Huntington's Disease & Me

Last week I received some news that closed the chapter of the past eight years of my life: I do not have Huntington's Disease. You might be thinking, "Yeah, me neither, what's the big deal," but it is a big deal. One in 10,000 Americans are currently suffering from HD and one of those people is my mom. HD, is a genetic disease which affects the sufferers brain functions, slowly robbing them of the ability to walk, talk, think or reason. The most noticeable symptoms are slurring of speech, uncontrollable body movement, dramatic weight loss and depression. A person who carries the genetic mutation has a 50/50 chance of passing it on to their offspring.

In 2004 my mom received the news. The diagnosis was completely unexpected. No one in my family had ever heard of the disease let alone suspected it might run in our family and I am not sure what lead the doctor to test my mom for the gene mutation. Though the news was upsetting at the time, it wasn't until recently that I realized just how devastating the diagnosis was. HD seems to be a secret disease that very few people know much about or truly understand so getting information about it has been a challenge. And, many of the sufferers and their families tend to keep the diagnosis a secret because of fear of discrimination.

My mom's diagnosis shed light on some of her behavior and motor skill issues but it also brought up more questions for me and my brothers. We found ourselves at risk for inheriting Huntington's Disease and faced with a decision of whether to get tested or not. Because so little information was available to me I relied on what I could find on the internet, scrounge up in the medical section of Barnes & Noble and of course the occasional depiction of the disease in medical dramas on prime time TV. But even these things combined left a lot of unanswered questions. I found myself angry, sad and definitely not ready to get tested. Besides, I didn't believe I had the gene anyway. My mom was told early on by her doctor that she had never diagnosed someone with the disease that wasn't extremely skinny. I have never really fit that description and just assumed the few extra pounds around my bottom were a sign of my healthy genes.

Despite being convinced I didn't have the gene, the timing wasn't right for me to get tested. I was 23, single and a recent college graduate trying to find my way in the professional world. I decided early on that I would wait to get tested until I was ready to settle down, get married and have babies. In December 2009 I began dating Adam and knew from the start that it was pretty serious. So getting tested was starting to make sense. In late 2010 my mom's symptoms began to increase and show themselves in a way my entire family could no longer ignore. This pushed me further to consider getting the test. In early 2011 I began attending a newly formed HD support group at the Lou Ruvo Center for Brain Health. It was at the first few meetings that I finally understood what Huntington's Disease was beyond my still limited experience. I began learning more medical based information about the disease and also learned that there are no definitive physical signs of the disease if you aren't symptomatic. So, essentially I realized that my struggle with weight was not a good enough reason to not get tested.

In February of this year I began getting my insurance in place to prepare for the worst case scenario and then began going through the required steps before I could get my blood test. I met with my general practitioner, a genetic counselor, neurologist and finally a psychologist. Basically, I have seen more doctors in the last six months then probably the last 10 years combined. This required process might seem overboard, but I understand now why it is the way it is. Getting your test results are life changing no matter if they are positive or negative. If you do test positive for the gene it is basically the beginning of a waiting game, waiting for the first symptoms to appear. If your test comes out negative it is good news for you, but it doesn't change the fate of those in your family who have the gene.

After jumping through many hoops, last Friday, Adam and I met with the doctor to receive my results. We both breathed a major sigh of relief, though Adam swears he knew I didn't have it. I was happy to share the news with my mom, though it was hard to not feel a little bit guilty. We cried and laughed and through it all she was still able to ask me when I was going to give her a grand-baby. (So, I guess this means the pressure is on!)

So, what's next? The chapter of my life wondering if I had HD is over, but my fight for a cure has just begun. I believe everything happens for a reason and that God has a plan for each of us. The process of getting my results has been a struggle in every way, but it was supposed to be that way. Now that I have lived the sleepless nights and anxiety of waiting for my results I am ready to stand beside my friends and family and fight the good fight. Through this process I have met a group of people who all share the bond of HD. Together we will fight this thing. I have recently signed on to help launch the Huntington's Disease Society of America Las Vegas Affiliate. I will do whatever it takes to give a voice, face and name to Huntington's Disease.

If you have taken the time to read this, thank you. I hope you will reach out to me with any questions, thoughts, emotions or comments. Sometimes we thinking not acknowledging something is the best way to deal with it, but by simply speaking up you become part of the journey to a cure.